{
    "disease_id": "DOID:0070096",
    "recommended_name": {
        "id": "DOID:0070096",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070096",
        "name": "oculocutaneous albinism type II",
        "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070096",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070096",
            "name": "OCA2",
            "description": ""
        },
        {
            "id": "DOID:0070096",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070096",
            "name": "Oculocutaneous Albinism, Tyrosinase-Positive",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "oculocutaneous albinism type 2",
            "description": "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm."
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "OCA2",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "albinism, oculocutaneous, type II, modifier of",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "oculocutaneous albinism type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "oculocutaneous albinism, tyrosinase-positive",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "Albinoidism",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "albinism, oculocutaneous, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "albinism, oculocutaneous, type II",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "oculocutaneous albinism tyrosinase positive",
            "description": ""
        },
        {
            "id": "MONDO:0008746",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008746",
            "name": "tyrosinase-positive oculocutaneous albinism",
            "description": ""
        },
        {
            "id": "MIM:203200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203200",
            "name": "Albinism, oculocutaneous, 2",
            "description": "Albinism, oculocutaneous, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070096"
    ],
    "unlinked_id_list": []
}