{
    "disease_id": "DOID:0090100",
    "recommended_name": {
        "id": "DOID:0090100",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090100",
        "name": "ocular albinism with sensorineural deafness",
        "description": "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates."
    },
    "synonyms": [
        {
            "id": "DOID:0090100",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090100",
            "name": "autosomal recessive Waardenburg syndrome type 2 with ocular albinism",
            "description": ""
        },
        {
            "id": "DOID:0090100",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090100",
            "name": "WS2-OA",
            "description": ""
        },
        {
            "id": "DOID:0090100",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090100",
            "name": "digenic Waardenburg syndrome/albinism",
            "description": ""
        },
        {
            "id": "DOID:0090100",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090100",
            "name": "digenic Waardenburg syndrome/ocular albinism",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "obsolete ocular albinism with congenital sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "WS2-OA",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "Waardenburg syndrome type 2 with ocular albinism",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "Waardenburg syndrome/albinism, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "Waardenburg syndrome/ocular albinism, digenic",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "autosomal recessive Waardenburg syndrome type 2 with ocular albinism",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "digenic Waardenburg syndrome/albinism",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "digenic Waardenburg syndrome/ocular albinism",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "albinism, ocular, with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "ocular albinism with congenital sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "ocular albinism with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0018138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018138",
            "name": "Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive",
            "description": ""
        }
    ]
}