{
  "id": 13930,
  "label": "pontocerebellar hypoplasia type 2B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012890",
  "properties": {
    "xrefs": [
      "DOID:0060268",
      "GARD:0015553",
      "MEDGEN:393505",
      "MESH:C567325",
      "OMIM:612389",
      "UMLS:C2676466"
    ],
    "synonyms": [
      "TSEN2 non-syndromic pontocerebellar hypoplasia",
      "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2",
      "pontocerebellar hypoplasia type 2B",
      "PCH2B",
      "pontocerebellar hypoplasia, type 2B"
    ],
    "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 TSEN2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17204,
      "label": "pontocerebellar hypoplasia type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16736,
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112328",
          "GARD:0010705",
          "MEDGEN:420956",
          "MESH:C548070",
          "NCIT:C124057",
          "Orphanet:2524",
          "SCTID:715463008",
          "UMLS:C2932714",
          "icd11.foundation:1158649247"
        ],
        "synonyms": [
          "PCH2",
          "progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty."
      },
      "child_count": 10,
      "reference_id": "MONDO:0016759"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17204,
      "label": "pontocerebellar hypoplasia type 2"
    }
  ]
}