{
  "id": 9947,
  "label": "Waardenburg syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008670",
  "properties": {
    "xrefs": [
      "DOID:0110948",
      "GARD:0005519",
      "MEDGEN:376211",
      "NCIT:C75008",
      "OMIM:193500",
      "Orphanet:894",
      "UMLS:C1847800",
      "icd11.foundation:547536187"
    ],
    "synonyms": [
      "WS1",
      "Waardenburg syndrome type 1",
      "Waardenburg syndrome type I",
      "Waardenburg syndrome with dystopia canthorum",
      "Waardenburg syndrome, type 1",
      "Waardenburg's syndrome type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18254,
      "label": "Waardenburg syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        16089
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9258",
          "GARD:0005525",
          "MEDGEN:473809",
          "MESH:D014849",
          "MedDRA:10069203",
          "NCIT:C85222",
          "NORD:1832",
          "OMIMPS:193500",
          "Orphanet:3440",
          "SCTID:715952000",
          "UMLS:C3266898",
          "icd11.foundation:304883627"
        ],
        "synonyms": [
          "Waardenburg syndrome",
          "Waardenburg's syndrome",
          "Mende syndrome",
          "Van der Hoeve Halbertsma Waardenburg Gualdi syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes."
      },
      "child_count": 15,
      "reference_id": "MONDO:0018094"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18254,
      "label": "Waardenburg syndrome"
    }
  ]
}