{
  "id": 13208,
  "label": "Waardenburg syndrome type 2D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012144",
  "properties": {
    "xrefs": [
      "DOID:0110952",
      "MEDGEN:323102",
      "MESH:C563839",
      "OMIM:608890",
      "UMLS:C1837203"
    ],
    "synonyms": [
      "SNAI2 Waardenburg syndrome type 2",
      "WS2D",
      "Waardenburg syndrome type 2 caused by mutation in SNAI2",
      "Waardenburg syndrome type IID",
      "Waardenburg syndrome, type 2D"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene."
  },
  "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"
    }
  ]
}