{
    "disease_id": "DOID:0111436",
    "recommended_name": {
        "id": "DOID:0111436",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111436",
        "name": "optic atrophy 11",
        "description": "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111436",
            "name": "OPA11",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "optic atrophy 11",
            "description": "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene."
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "OPA11",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "YME1L1 autosomal recessive isolated optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "autosomal recessive isolated optic atrophy caused by mutation in YME1L1",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "optic atrophy 11",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "optic atrophy type 11",
            "description": ""
        },
        {
            "id": "MIM:617302",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617302",
            "name": "Optic atrophy 11",
            "description": "Optic atrophy 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111436"
    ],
    "unlinked_id_list": []
}
