{
  "id": 13738,
  "label": "Waardenburg syndrome type 2E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012698",
  "properties": {
    "xrefs": [
      "DOID:0110956",
      "GARD:0015521",
      "MEDGEN:398476",
      "OMIM:611584",
      "UMLS:C2700405"
    ],
    "synonyms": [
      "SOX10 Waardenburg syndrome type 2",
      "WS2E",
      "Waardenburg syndrome type 2 caused by mutation in SOX10",
      "Waardenburg syndrome, type 2E",
      "Waardenburg syndrome, type 2E, with or without neurologic involvement",
      "Ws2E, with or without neurologic involvement",
      "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation"
    ],
    "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 SOX10 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"
    }
  ]
}