{
    "disease_id": "DOID:0110955",
    "recommended_name": {
        "id": "DOID:0110955",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110955",
        "name": "Waardenburg syndrome type 4C",
        "description": "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110955",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110955",
            "name": "WS4C",
            "description": ""
        },
        {
            "id": "DOID:0110955",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110955",
            "name": "Waardenburg syndrome type IVC",
            "description": ""
        },
        {
            "id": "DOID:0110955",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110955",
            "name": "Waardenburg syndrome with Hirschsprung disease type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0013202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013202",
            "name": "Waardenburg syndrome type 4C",
            "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10."
        },
        {
            "id": "MONDO:0013202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013202",
            "name": "WS4C",
            "description": ""
        },
        {
            "id": "MONDO:0013202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013202",
            "name": "Waardenburg syndrome type 4C",
            "description": ""
        },
        {
            "id": "MONDO:0013202",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013202",
            "name": "Waardenburg syndrome, type 4C",
            "description": ""
        },
        {
            "id": "MIM:613266",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613266",
            "name": "Waardenburg syndrome 4C",
            "description": "Waardenburg syndrome 4C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110955"
    ],
    "unlinked_id_list": []
}