{
    "disease_id": "DOID:0070099",
    "recommended_name": {
        "id": "DOID:0070099",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070099",
        "name": "oculocutaneous albinism type V",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070099",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070099",
            "name": "OCA5",
            "description": ""
        },
        {
            "id": "MONDO:0014127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014127",
            "name": "oculocutaneous albinism type 5",
            "description": "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered."
        },
        {
            "id": "MONDO:0014127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014127",
            "name": "OCA5",
            "description": ""
        },
        {
            "id": "MONDO:0014127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014127",
            "name": "albinism, oculocutaneous, type V",
            "description": ""
        },
        {
            "id": "MONDO:0014127",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014127",
            "name": "oculocutaneous albinism type V",
            "description": ""
        }
    ]
}