{
    "disease_id": "DOID:0110956",
    "recommended_name": {
        "id": "DOID:0110956",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110956",
        "name": "Waardenburg syndrome type 2E",
        "description": "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "WS2E",
            "description": ""
        },
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "WS2E with or without neurological involvement",
            "description": ""
        },
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "Waardenburg syndrome type IIE",
            "description": ""
        },
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation",
            "description": ""
        },
        {
            "id": "DOID:0110956",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110956",
            "name": "Waardenburg syndrome type 2E with or without neurologic involvement",
            "description": ""
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "Waardenburg syndrome type 2E",
            "description": "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene."
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "SOX10 Waardenburg syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "WS2E",
            "description": ""
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "Waardenburg syndrome type 2 caused by mutation in SOX10",
            "description": ""
        },
        {
            "id": "MONDO:0012698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012698",
            "name": "Waardenburg syndrome, type 2E",
            "description": ""
        },
        {
            "id": "MIM:611584",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611584",
            "name": "Waardenburg syndrome 2E",
            "description": "Waardenburg syndrome 2E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110956"
    ],
    "unlinked_id_list": []
}