{
    "disease_id": "DOID:0080614",
    "recommended_name": {
        "id": "DOID:0080614",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080614",
        "name": "oculocutaneous albinism type VI",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0018264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018264",
            "name": "oculocutaneous albinism type 6",
            "description": "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity."
        },
        {
            "id": "MONDO:0018264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018264",
            "name": "OCA6",
            "description": ""
        },
        {
            "id": "MONDO:0018264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018264",
            "name": "albinism, oculocutaneous, type VI",
            "description": ""
        },
        {
            "id": "MONDO:0018264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018264",
            "name": "skin/hair/eye pigmentation 4, fair/dark skin",
            "description": ""
        },
        {
            "id": "MIM:113750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/113750",
            "name": "Albinism, oculocutaneous, 6",
            "description": "Albinism, oculocutaneous, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080614"
    ],
    "unlinked_id_list": []
}
