{
    "disease_id": "DOID:0111437",
    "recommended_name": {
        "id": "DOID:0111437",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111437",
        "name": "optic atrophy 7",
        "description": "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111437",
            "name": "OPA7",
            "description": ""
        },
        {
            "id": "DOID:0111437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111437",
            "name": "optic atrophy 7 with or without auditory neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0013069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "name": "autosomal recessive optic atrophy, OPA7 type",
            "description": "An optic atrophy that is caused by a mutation in the TMEM126A gene."
        },
        {
            "id": "MONDO:0013069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "name": "TMEM126A-related optic atrophy with or without extraocular features",
            "description": ""
        },
        {
            "id": "MONDO:0013069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "name": "OPA7",
            "description": ""
        },
        {
            "id": "MONDO:0013069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013069",
            "name": "optic atrophy 7 with or without auditory neuropathy",
            "description": ""
        },
        {
            "id": "MIM:612989",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612989",
            "name": "Optic atrophy 7 with or without auditory neuropathy",
            "description": "Optic atrophy 7 with or without auditory neuropathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111437"
    ],
    "unlinked_id_list": []
}