{
  "id": 12786,
  "label": "Waardenburg syndrome type 2C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011697",
  "properties": {
    "xrefs": [
      "DOID:0110951",
      "GARD:0015396",
      "MEDGEN:335755",
      "MESH:C564684",
      "OMIM:606662",
      "UMLS:C1847722"
    ],
    "synonyms": [
      "WS2C",
      "Waardenburg syndrome, type 2C"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19330,
      "label": "Waardenburg syndrome type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18254
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005520",
          "MEDGEN:398443",
          "MESH:C536463",
          "NCIT:C75009",
          "Orphanet:895",
          "UMLS:C2700265",
          "icd11.foundation:746815303"
        ],
        "synonyms": [
          "WS2",
          "Waardenburg syndrome type 2",
          "Waardenburg syndrome type II",
          "WS 2",
          "WS type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum."
      },
      "child_count": 5,
      "reference_id": "MONDO:0019517"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19330,
      "label": "Waardenburg syndrome type 2"
    }
  ]
}