{
    "disease_id": "DOID:0090002",
    "recommended_name": {
        "id": "DOID:0090002",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090002",
        "name": "Tietz syndrome",
        "description": "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13."
    },
    "synonyms": [
        {
            "id": "DOID:0090002",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090002",
            "name": "Tietz albinism-deafness syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090002",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090002",
            "name": "albinism-deafness of Tietz",
            "description": ""
        },
        {
            "id": "DOID:0090002",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090002",
            "name": "hypopigmentation/deafness of Tietz",
            "description": ""
        },
        {
            "id": "MONDO:0007077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007077",
            "name": "Tietz syndrome",
            "description": "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair."
        },
        {
            "id": "MONDO:0007077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007077",
            "name": "albinism-deafness of Tietz",
            "description": ""
        },
        {
            "id": "MONDO:0007077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007077",
            "name": "Tietz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007077",
            "name": "hypopigmentation/deafness of Tietz",
            "description": ""
        },
        {
            "id": "MONDO:0007077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007077",
            "name": "Tietz albinism-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007077",
            "name": "TADS",
            "description": ""
        },
        {
            "id": "MONDO:0007077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007077",
            "name": "hypopigmentation-deafness syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007077",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007077",
            "name": "Tietz albinism-deafness syndrome; TADS",
            "description": ""
        },
        {
            "id": "MIM:103500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/103500",
            "name": "Tietz albinism-deafness syndrome",
            "description": "Tietz albinism-deafness syndrome"
        }
    ]
}