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ISCA2
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pnrobinson committed Dec 13, 2023
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1 change: 1 addition & 0 deletions docs/collections.md
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Expand Up @@ -15,6 +15,7 @@ were mainly created using the Python library [pyphetools](https://github.com/mon
| [FBN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBN1){:target="_blank"} | 103 phenopackets ;[Ectopia lentis, familial](https://omim.org/entry/129600){:target="_blank"}, [Marfan lipodystrophy syndrome](https://omim.org/entry/616914){:target="_blank"}, [Marfan syndrome](https://omim.org/entry/154700){:target="_blank"}, [Geleophysic dysplasia 2](https://omim.org/entry/614185){:target="_blank"},[Acromicric dysplasia](https://omim.org/entry/102370){:target="_blank"} |
| [FLXB4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBXL4/FBXL4-curation.ipynb){:target="_blank"}|30 phenopackets; [Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)](https://omim.org/entry/615471){:target="_blank"} |
| [GLI3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GLI3){:target="_blank"} | 77 phenopackets; [Greig cephalopolysyndactyly syndrome](https://omim.org/entry/175700){:target="_blank"}, [Pallister-Hall syndrome](https://omim.org/entry/146510){:target="_blank"}, [Polydactyly, postaxial, types A1 and B](https://omim.org/entry/174200){:target="_blank"} |
| [ISCA2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ISCA2/ISCA2-curation.ipynb) | 16 phenopackets; [Mitochondrial DNA depletion syndrome 4](https://omim.org/entry/616370){:target="_blank"} |
| [Jacobsen syndrome](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/11q_terminal_deletion/grossfield_11q_2002.ipynb){:target="_blank"} |69 phenopackets; [Jacobsen syndrome](https://omim.org/entry/147791){:target="_blank"} |
| [KDM6B](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/KDM6B/KDM6B_PMID_37196654.ipynb){:target="_blank"} |73 phenopackets; [Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities](https://omim.org/entry/618505){:target="_blank"} |
| [LIRICAL](https://github.com/monarch-initiative/phenopacket-store/blob/main/notebooks/LIRICAL/LIRICAL.ipynb){:target="_blank"} | 384 phenopackets, various diseases |
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171 changes: 171 additions & 0 deletions 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"
}
},
"sex": "FEMALE"
},
"phenotypicFeatures": [
{
"type": {
"id": "HP:0002376",
"label": "Developmental regression"
}
},
{
"type": {
"id": "HP:0000737",
"label": "Irritability"
}
},
{
"type": {
"id": "HP:0100785",
"label": "Insomnia"
}
},
{
"type": {
"id": "HP:0001257",
"label": "Spasticity"
}
},
{
"type": {
"id": "HP:0000648",
"label": "Optic atrophy"
}
},
{
"type": {
"id": "HP:0001347",
"label": "Hyperreflexia"
}
},
{
"type": {
"id": "HP:0030891",
"label": "Periventricular white matter hyperintensities"
}
},
{
"type": {
"id": "HP:0001273",
"label": "Abnormal corpus callosum morphology"
}
},
{
"type": {
"id": "HP:0002418",
"label": "Abnormal midbrain morphology"
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}
],
"interpretations": [
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"progressStatus": "SOLVED",
"diagnosis": {
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"label": "Mitochondrial DNA depletion syndrome 4"
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"symbol": "ISCA2"
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"expressions": [
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"pos": "74494329",
"ref": "G",
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"reference": "https://pubmed.ncbi.nlm.nih.gov/25539947",
"description": "ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder"
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159 changes: 159 additions & 0 deletions notebooks/ISCA2/phenopackets/PMID_29122497_29122497_P1.json
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{
"id": "PMID_29122497_29122497_P1",
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"timeAtLastEncounter": {
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},
{
"type": {
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},
{
"type": {
"id": "HP:0008936",
"label": "Axial hypotonia"
}
},
{
"type": {
"id": "HP:0002061",
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}
},
{
"type": {
"id": "HP:0006986",
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"type": {
"id": "HP:0040330",
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"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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