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NEK8
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pnrobinson committed Dec 27, 2024
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245 changes: 245 additions & 0 deletions notebooks/NEK8/NEK8_PKD8_individuals.ipynb

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215 changes: 215 additions & 0 deletions notebooks/NEK8/phenopackets/PMID_36215968_patient.json
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{
"id": "PMID_36215968_patient",
"subject": {
"id": "patient",
"timeAtLastEncounter": {
"age": {
"iso8601duration": "P2M"
}
},
"vitalStatus": {
"status": "ALIVE"
},
"sex": "MALE"
},
"phenotypicFeatures": [
{
"type": {
"id": "HP:0000822",
"label": "Hypertension"
},
"onset": {
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}
},
{
"type": {
"id": "HP:0000083",
"label": "Renal insufficiency"
},
"onset": {
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}
}
},
{
"type": {
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"label": "Polyuria"
},
"onset": {
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"iso8601duration": "P1M"
}
}
},
{
"type": {
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"label": "Polydipsia"
},
"onset": {
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}
}
},
{
"type": {
"id": "HP:0004719",
"label": "Hyperechogenic kidneys"
},
"onset": {
"age": {
"iso8601duration": "P1M"
}
}
},
{
"type": {
"id": "HP:0000105",
"label": "Enlarged kidney"
}
},
{
"type": {
"id": "HP:0000090",
"label": "Nephronophthisis"
},
"excluded": true
},
{
"type": {
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"label": "Hepatic cysts"
},
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},
{
"type": {
"id": "HP:0003774",
"label": "Stage 5 chronic kidney disease"
},
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}
],
"interpretations": [
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"id": "patient",
"progressStatus": "SOLVED",
"diagnosis": {
"disease": {
"id": "OMIM:620903",
"label": "Polycystic kidney disease 8"
},
"genomicInterpretations": [
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"subjectOrBiosampleId": "patient",
"interpretationStatus": "CAUSATIVE",
"variantInterpretation": {
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"id": "var_ijqBhHWjJVXNhuqEeuODDUGwW",
"geneContext": {
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"externalReferences": [
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160 changes: 160 additions & 0 deletions notebooks/NEK8/phenopackets/PMID_37598857_Family10individual.json
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{
"id": "PMID_37598857_Family_10_individual",
"subject": {
"id": "Family 10 individual",
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"status": "ALIVE"
},
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},
"phenotypicFeatures": [
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{
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"type": {
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"diseases": [
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"externalReferences": [
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"description": "Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease"
}
]
}
}
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