{
    "disease_id": "DOID:0070098",
    "recommended_name": {
        "id": "DOID:0070098",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070098",
        "name": "oculocutaneous albinism type IV",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070098",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070098",
            "name": "OCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "oculocutaneous albinism type 4",
            "description": "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm."
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "OCA4",
            "description": ""
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "SLC45A2 oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "oculocutaneous albinism caused by mutation in SLC45A2",
            "description": ""
        },
        {
            "id": "MONDO:0011683",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011683",
            "name": "albinism, oculocutaneous, type IV",
            "description": ""
        },
        {
            "id": "MIM:606574",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606574",
            "name": "Albinism, oculocutaneous, 4",
            "description": "Albinism, oculocutaneous, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070098"
    ],
    "unlinked_id_list": []
}
