{
    "disease_id": "DOID:0110952",
    "recommended_name": {
        "id": "DOID:0110952",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110952",
        "name": "obsolete Waardenburg syndrome type 2D",
        "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 homozygous deletion of the SNAI2 gene on chromosome 8q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110952",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110952",
            "name": "WS2D",
            "description": ""
        },
        {
            "id": "DOID:0110952",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110952",
            "name": "Waardenburg syndrome type IID",
            "description": ""
        },
        {
            "id": "MONDO:0012144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012144",
            "name": "Waardenburg syndrome type 2D",
            "description": "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene."
        },
        {
            "id": "MONDO:0012144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012144",
            "name": "SNAI2 Waardenburg syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012144",
            "name": "WS2D",
            "description": ""
        },
        {
            "id": "MONDO:0012144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012144",
            "name": "Waardenburg syndrome type 2 caused by mutation in SNAI2",
            "description": ""
        },
        {
            "id": "MONDO:0012144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012144",
            "name": "Waardenburg syndrome type IID",
            "description": ""
        },
        {
            "id": "MONDO:0012144",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012144",
            "name": "Waardenburg syndrome, type 2D",
            "description": ""
        },
        {
            "id": "MIM:608890",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608890",
            "name": "Waardenburg syndrome 2D",
            "description": "Waardenburg syndrome 2D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110952"
    ],
    "unlinked_id_list": []
}