{
    "disease_id": "DOID:0110948",
    "recommended_name": {
        "id": "DOID:0110948",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110948",
        "name": "Waardenburg syndrome type 1",
        "description": "A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36."
    },
    "synonyms": [
        {
            "id": "DOID:0110948",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110948",
            "name": "WS1",
            "description": ""
        },
        {
            "id": "DOID:0110948",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110948",
            "name": "Waardenburg syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome type 1",
            "description": "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), 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."
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome, type 1; WS1",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg's syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "WS1",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008670",
            "name": "Waardenburg syndrome with dystopia canthorum",
            "description": ""
        },
        {
            "id": "MIM:193500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193500",
            "name": "Waardenburg syndrome 1",
            "description": "Waardenburg syndrome 1"
        }
    ]
}