{
    "disease_id": "DOID:0070094",
    "recommended_name": {
        "id": "DOID:0070094",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070094",
        "name": "oculocutaneous albinism type IA",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity."
    },
    "synonyms": [
        {
            "id": "DOID:0070094",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070094",
            "name": "OCA1A",
            "description": ""
        },
        {
            "id": "DOID:0070094",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070094",
            "name": "Oculocutaneous Albinism, Tyrosinase-Negative",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism type 1A",
            "description": "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves."
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "TYR oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism, tyrosinase-negative",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "albinism 1",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "Tyr oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism type IA",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "OCA1A",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "albinism, oculocutaneous, type IA",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "tyrosinase-negative oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "albinism, oculocutaneous, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism caused by mutation in TYR",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "oculocutaneous albinism caused by mutation in Tyr",
            "description": ""
        },
        {
            "id": "MONDO:0008745",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008745",
            "name": "albinism, oculocutaneous, type IA; OCA1A",
            "description": ""
        },
        {
            "id": "MIM:203100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203100",
            "name": "Albinism, oculocutaneous, 1A",
            "description": "Albinism, oculocutaneous, 1A"
        }
    ]
}