{
    "disease_id": "DOID:0090100", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0018138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0018138", 
            "name": "ocular albinism with congenital sensorineural deafness"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0018138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0018138", 
            "name": "albinism, ocular, with sensorineural deafness"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0018138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0018138", 
            "name": "digenic Waardenburg syndrome/ocular albinism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0018138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0018138", 
            "name": "autosomal recessive Waardenburg syndrome type 2 with ocular albinism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0018138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0018138", 
            "name": "Waardenburg syndrome type 2 with ocular albinism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0018138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0018138", 
            "name": "WS2-OA"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0018138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0018138", 
            "name": "digenic Waardenburg syndrome/albinism"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0018138", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0018138", 
            "name": "Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090100", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090100", 
            "name": "autosomal recessive Waardenburg syndrome type 2 with ocular albinism"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090100", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090100", 
            "name": "WS2-OA"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090100", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090100", 
            "name": "digenic Waardenburg syndrome/albinism"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090100", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090100", 
            "name": "digenic Waardenburg syndrome/ocular albinism"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090100", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090100", 
        "name": "ocular albinism with sensorineural deafness"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090100#disease-associations", 
            "id": "0090100", 
            "database": "Alliance of Genome Resources"
        }
    ]
}