{
  "id": 12945,
  "label": "pontocerebellar hypoplasia type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011866",
  "properties": {
    "xrefs": [
      "DOID:0060265",
      "GARD:0015416",
      "MEDGEN:335969",
      "OMIM:607596",
      "UMLS:C1843504"
    ],
    "synonyms": [
      "VRK1 non-syndromic pontocerebellar hypoplasia",
      "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1",
      "PCH1A",
      "Pch1",
      "pontocerebellar hypoplasia with anterior horn cell disease",
      "pontocerebellar hypoplasia with infantile spinal muscular atrophy",
      "pontocerebellar hypoplasia, type 1A"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16924,
      "label": "pontocerebellar hypoplasia type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        16736,
        19320,
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112322",
          "GARD:0010704",
          "MEDGEN:1780208",
          "MESH:C548069",
          "Orphanet:2254",
          "SCTID:718610008",
          "UMLS:C5442006",
          "icd11.foundation:1227773923"
        ],
        "synonyms": [
          "MRT32",
          "Norman disease",
          "PCH1",
          "mental retardation, autosomal recessive 32"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death."
      },
      "child_count": 12,
      "reference_id": "MONDO:0016396"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16924,
      "label": "pontocerebellar hypoplasia type 1"
    }
  ]
}