{
    "disease_id": "DOID:0110953",
    "recommended_name": {
        "id": "DOID:0110953",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110953",
        "name": "Waardenburg syndrome type 4A",
        "description": "A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110953",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110953",
            "name": "WS4A",
            "description": ""
        },
        {
            "id": "DOID:0110953",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110953",
            "name": "Waardenburg syndrome type IVA",
            "description": ""
        },
        {
            "id": "DOID:0110953",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110953",
            "name": "Waardenburg syndrome with Hirschsprung disease type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome type 4A",
            "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB."
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome type IVA",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "EDNRB Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg-Shah syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Shah-Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Ws4",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome, type 4A; WS4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome with Hirschsprung disease type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome caused by mutation in EDNRB",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome with Hirschsprung disease, type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome, type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "WS4A",
            "description": ""
        },
        {
            "id": "MIM:277580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277580",
            "name": "Waardenburg syndrome 4A",
            "description": "Waardenburg syndrome 4A"
        }
    ]
}