{
  "id": 14238,
  "label": "Waardenburg syndrome type 4C",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013202",
  "properties": {
    "xrefs": [
      "DOID:0110955",
      "GARD:0015642",
      "MEDGEN:413310",
      "MESH:C567679",
      "OMIM:613266",
      "UMLS:C2750452"
    ],
    "synonyms": [
      "WS4C",
      "Waardenburg syndrome type 4C",
      "Waardenburg syndrome with Hirschsprung disease, type 4C",
      "Waardenburg syndrome, type 4C"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19331,
      "label": "Waardenburg-Shah syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18254,
        20415,
        20691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005524",
          "NCIT:C124842",
          "Orphanet:897",
          "icd11.foundation:1420151003"
        ],
        "synonyms": [
          "Shah-Waardenburg syndrome",
          "WS4",
          "Waardenburg syndrome type 4",
          "Waardenburg syndrome type IV",
          "Waardenburg-Hirschsprung syndrome",
          "Waardenburg-Shah syndrome",
          "Hirschsprung disease with pigmentary anomaly",
          "Waardenburg-Hirschsprung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease."
      },
      "child_count": 9,
      "reference_id": "MONDO:0019518"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19331,
      "label": "Waardenburg-Shah syndrome"
    }
  ]
}