{
  "id": 19330,
  "label": "Waardenburg syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019517",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": [
    {
      "id": 9948,
      "label": "Waardenburg syndrome type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110950",
          "GARD:0005521",
          "MEDGEN:349786",
          "MESH:C536464",
          "NCIT:C75011",
          "OMIM:193510",
          "UMLS:C1860339"
        ],
        "synonyms": [
          "MITF Waardenburg syndrome type 2",
          "WS2A",
          "Waardenburg syndrome type 2 caused by mutation in MITF",
          "Waardenburg syndrome type 2A",
          "Waardenburg syndrome type IIA",
          "Waardenburg syndrome without dystopia canthorum",
          "Waardenburg syndrome, type 2A",
          "Ws2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Waardenburg syndrome Type 2 caused by mutations in the MITF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008671"
    },
    {
      "id": 11977,
      "label": "Waardenburg syndrome type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110947",
          "GARD:0005522",
          "MEDGEN:373973",
          "MESH:C536465",
          "OMIM:600193",
          "UMLS:C1838447"
        ],
        "synonyms": [
          "WS2B",
          "Waardenburg syndrome, type 2B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010841"
    },
    {
      "id": 12786,
      "label": "Waardenburg syndrome type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19330
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011697"
    },
    {
      "id": 13208,
      "label": "Waardenburg syndrome type 2D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19330
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012144"
    },
    {
      "id": 13738,
      "label": "Waardenburg syndrome type 2E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19330
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012698"
    }
  ],
  "roots": [
    {
      "id": 18254,
      "label": "Waardenburg syndrome"
    }
  ]
}