{
    "disease_id": "DOID:0111441",
    "recommended_name": {
        "id": "DOID:0111441",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111441",
        "name": "optic atrophy 1",
        "description": "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29."
    },
    "synonyms": [
        {
            "id": "DOID:0111441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111441",
            "name": "OPA1",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "autosomal dominant optic atrophy, classic form",
            "description": "One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disk pallor, visual field and color vision defects."
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "Kjer optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "autosomal dominant optic atrophy, Kjer type",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "optic atrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "OAK",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "OPA1",
            "description": ""
        },
        {
            "id": "MONDO:0008134",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008134",
            "name": "optic atrophy 1",
            "description": ""
        },
        {
            "id": "MIM:165500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/165500",
            "name": "Optic atrophy 1",
            "description": "Optic atrophy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111441"
    ],
    "unlinked_id_list": []
}