{
  "id": 13020,
  "label": "pontocerebellar hypoplasia type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011948",
  "properties": {
    "xrefs": [
      "DOID:0060272",
      "GARD:0010708",
      "MEDGEN:334225",
      "MESH:C548072",
      "OMIM:608027",
      "Orphanet:97249",
      "SCTID:718609003",
      "UMLS:C1842687",
      "icd11.foundation:378477807"
    ],
    "synonyms": [
      "PCH with optic atrophy",
      "PCH without dyskinesia",
      "PCH3",
      "PCLO non-syndromic pontocerebellar hypoplasia",
      "cerebellar atrophy with progressive microcephaly",
      "clam",
      "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO",
      "Pch with optic atrophy",
      "pontocerebellar hypoplasia, type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3."
  },
  "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"
    }
  ]
}