{
    "disease_id": "DOID:0070095",
    "recommended_name": {
        "id": "DOID:0070095",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070095",
        "name": "oculocutaneous albinism type IB",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity."
    },
    "synonyms": [
        {
            "id": "DOID:0070095",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070095",
            "name": "Albinism, Yellow Mutant Type",
            "description": ""
        },
        {
            "id": "DOID:0070095",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070095",
            "name": "OCA1B",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "oculocutaneous albinism type 1B",
            "description": "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves."
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "Yellow mutant albinism",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "oculocutaneous albinism, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "Yellow oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "albinism, oculocutaneous, type IB; OCA1B",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "albinism, Yellow mutant type",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "Oca1-Ts",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "albinism, oculocutaneous, type IB",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "oculocutaneous albinism type IB",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "platinum oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "oculocutaneous albinism, Amish type",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "albinism, oculocutaneous, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "albinism, oculocutaneous, type I, temperature-sensitive",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "Yellow albinism",
            "description": ""
        },
        {
            "id": "MONDO:0011749",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011749",
            "name": "OCA1B",
            "description": ""
        },
        {
            "id": "MIM:606952",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606952",
            "name": "Albinism, oculocutaneous, 1B",
            "description": "Albinism, oculocutaneous, 1B"
        }
    ]
}