{
    "disease_id": "DOID:0110954",
    "recommended_name": {
        "id": "DOID:0110954",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110954",
        "name": "Waardenburg syndrome type 4B",
        "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 homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110954",
            "name": "WS4B",
            "description": ""
        },
        {
            "id": "DOID:0110954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110954",
            "name": "Waardenburg syndrome type IVB",
            "description": ""
        },
        {
            "id": "DOID:0110954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110954",
            "name": "Waardenburg syndrome with Hirschsprung disease type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "Waardenburg syndrome type 4B",
            "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3."
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "EDN3 Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "WS4B",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "Waardenburg syndrome caused by mutation in EDN3",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "Waardenburg syndrome type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "Waardenburg syndrome, type 4B",
            "description": ""
        },
        {
            "id": "MIM:613265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613265",
            "name": "Waardenburg syndrome 4B",
            "description": "Waardenburg syndrome 4B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110954"
    ],
    "unlinked_id_list": []
}