{
  "id": 11760,
  "label": "hydrocephaly-cerebellar agenesis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010612",
  "properties": {
    "xrefs": [
      "GARD:0001200",
      "MEDGEN:375335",
      "MESH:C564407",
      "OMIM:307010",
      "Orphanet:1397",
      "UMLS:C1844005"
    ],
    "synonyms": [
      "X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome",
      "cerebellum agenesis hydrocephaly",
      "hydrocephalus with cerebellar agenesis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}