{
  "id": 19331,
  "label": "Waardenburg-Shah syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019518",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    },
    {
      "id": 20415,
      "label": "intestinal motility disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:586448",
          "UMLS:C0400865"
        ],
        "synonyms": [
          "disorder of intestinal motility"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A disease that has its basis in the disruption of intestinal motility."
      },
      "child_count": 15,
      "reference_id": "MONDO:0021189"
    },
    {
      "id": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    }
  ],
  "children": [
    {
      "id": 11374,
      "label": "Waardenburg syndrome type 4A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19331
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110953",
          "GARD:0015245",
          "MEDGEN:341244",
          "OMIM:277580",
          "UMLS:C1848519"
        ],
        "synonyms": [
          "EDNRB Waardenburg syndrome",
          "WS4A",
          "Waardenburg syndrome caused by mutation in EDNRB",
          "Waardenburg syndrome type 4A",
          "Shah-Waardenburg syndrome",
          "Waardenburg syndrome with Hirschsprung disease, type 4A",
          "Waardenburg syndrome, type 4A",
          "Waardenburg-Shah syndrome",
          "Ws4"
        ],
        "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 EDNRB."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010192"
    },
    {
      "id": 14237,
      "label": "Waardenburg syndrome type 4B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19331
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110954",
          "GARD:0015641",
          "MEDGEN:412961",
          "MESH:C567680",
          "OMIM:613265",
          "UMLS:C2750457"
        ],
        "synonyms": [
          "EDN3 Waardenburg syndrome",
          "WS4B",
          "Waardenburg syndrome caused by mutation in EDN3",
          "Waardenburg syndrome type 4B",
          "Waardenburg syndrome, type 4B",
          "Waardenburg syndrome, type 4B, with Hirschsprung disease"
        ],
        "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 EDN3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013201"
    },
    {
      "id": 14238,
      "label": "Waardenburg syndrome type 4C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19331
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013202"
    }
  ],
  "roots": [
    {
      "id": 18254,
      "label": "Waardenburg syndrome"
    },
    {
      "id": 20415,
      "label": "intestinal motility disease"
    },
    {
      "id": 20691,
      "label": "neurocristopathy"
    }
  ]
}