{
    "disease_id": "DOID:0050633",
    "recommended_name": {
        "id": "DOID:0050633",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050633",
        "name": "ocular albinism 1",
        "description": "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin."
    },
    "synonyms": [
        {
            "id": "DOID:0050633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050633",
            "name": "Albinism ocular 1",
            "description": ""
        },
        {
            "id": "DOID:0050633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050633",
            "name": "ocular albinism",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "X-linked recessive ocular albinism",
            "description": "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males."
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "Nettleship-Falls syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "OA1",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "XLOA",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "ocular albinism type 1",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "ocular albinism, Nettleship-Falls type",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "ocular albinism, type I, Nettleship-Falls type",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "X-linked ocular albinism",
            "description": ""
        },
        {
            "id": "MONDO:0021019",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021019",
            "name": "albinism, ocular, type I",
            "description": ""
        },
        {
            "id": "MIM:300500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300500",
            "name": "Albinism ocular 1",
            "description": "Albinism ocular 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0090100",
            "label": "ocular albinism with sensorineural deafness",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090100",
        "DOID:0050633"
    ],
    "unlinked_id_list": []
}