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171 changes: 171 additions & 0 deletions
171
notebooks/ISCA2/phenopackets/PMID_25539947_25539947_P1.json
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{ | ||
"id": "PMID_25539947_25539947_P1", | ||
"subject": { | ||
"id": "25539947_P1", | ||
"timeAtLastEncounter": { | ||
"age": { | ||
"iso8601duration": "P7M" | ||
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}, | ||
"sex": "FEMALE" | ||
}, | ||
"phenotypicFeatures": [ | ||
{ | ||
"type": { | ||
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"label": "Developmental regression" | ||
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"label": "Irritability" | ||
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"description": "ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder" | ||
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159 changes: 159 additions & 0 deletions
159
notebooks/ISCA2/phenopackets/PMID_29122497_29122497_P1.json
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{ | ||
"id": "PMID_29122497_29122497_P1", | ||
"subject": { | ||
"id": "29122497_P1", | ||
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"label": "Optic atrophy" | ||
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{ | ||
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{ | ||
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"url": "https://www.omim.org", | ||
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"version": "2023-10-09", | ||
"namespacePrefix": "HP", | ||
"iriPrefix": "http://purl.obolibrary.org/obo/HP_" | ||
} | ||
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"phenopacketSchemaVersion": "2.0", | ||
"externalReferences": [ | ||
{ | ||
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"reference": "https://pubmed.ncbi.nlm.nih.gov/29122497", | ||
"description": "Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases" | ||
} | ||
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} |
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