{
  "id": 18254,
  "label": "Waardenburg syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018094",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [
    {
      "id": 9198,
      "label": "Waardenburg syndrome type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18254
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110949",
          "GARD:0005523",
          "MEDGEN:86948",
          "OMIM:148820",
          "Orphanet:896",
          "UMLS:C0079661",
          "icd11.foundation:847608197"
        ],
        "synonyms": [
          "Klein-Waardenburg syndrome",
          "WS3",
          "Waardenburg syndrome type III",
          "Waardenburg syndrome with limb anomalies",
          "Waardenburg syndrome with upper limb anomalies",
          "Waardenburg syndrome, type 3",
          "White forelock (poliosis) syndrome with multiple congenital malformations"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007862"
    },
    {
      "id": 9947,
      "label": "Waardenburg syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18254
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008670"
    },
    {
      "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"
    },
    {
      "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"
    },
    {
      "id": 22169,
      "label": "Waardenburg syndrome, IIa 2F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18254
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025672",
          "MEDGEN:1809587",
          "OMIM:619947",
          "UMLS:C5677013"
        ],
        "synonyms": [
          "WS2F",
          "Waardenburg syndrome, IIa 2F"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030983"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}