{
    "disease_id": "DOID:0050632",
    "recommended_name": {
        "id": "DOID:0050632",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050632",
        "name": "oculocutaneous albinism",
        "description": "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes."
    },
    "synonyms": [
        {
            "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"
        }
    ]
}