{
  "id": 15000,
  "label": "pontocerebellar hypoplasia type 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013990",
  "properties": {
    "xrefs": [
      "DOID:0060277",
      "GARD:0017488",
      "MEDGEN:767123",
      "OMIM:614961",
      "Orphanet:324569",
      "SCTID:718611007",
      "UMLS:C3554209"
    ],
    "synonyms": [
      "CHMP1A non-syndromic pontocerebellar hypoplasia",
      "PCH8",
      "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A",
      "pontocerebellar hypoplasia due to CHMP1A mutation",
      "pontocerebellar hypoplasia type 8",
      "pontocerebellar hypoplasia, type 8"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19752,
      "label": "pontocerebellar hypoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060264",
          "GARD:0010977",
          "MEDGEN:224703",
          "MESH:C580383",
          "NORD:1596",
          "OMIMPS:607596",
          "Orphanet:98523",
          "SCTID:45163000",
          "UMLS:C1261175",
          "icd11.foundation:1565266279"
        ],
        "synonyms": [
          "PCH",
          "pontocerebellar hypoplasia",
          "pontoneocerebellar atrophy",
          "pontoneocerebllar hypoplasia",
          "isolated pontocerebellar hypoplasia",
          "nonsyndromic pontocerebellar hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern."
      },
      "child_count": 42,
      "reference_id": "MONDO:0020135"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19752,
      "label": "pontocerebellar hypoplasia"
    }
  ]
}