{
    "disease_id": "DOID:0111434",
    "recommended_name": {
        "id": "DOID:0111434",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111434",
        "name": "optic atrophy 10",
        "description": "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111434",
            "name": "optic atrophy 10 with or without ataxia, mental retardation, and seizures",
            "description": ""
        },
        {
            "id": "DOID:0111434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111434",
            "name": "OPA10",
            "description": ""
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "optic atrophy 10 with or without ataxia, intellectual disability, and seizures",
            "description": "An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures."
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "OPA10",
            "description": ""
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "RTN4IP1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "RTN4IP1-related optic atrophy with or without neurological features",
            "description": ""
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "optic atrophy 10 with or without ataxia, mental retardation, and seizures",
            "description": ""
        },
        {
            "id": "MIM:616732",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616732",
            "name": "Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures",
            "description": "Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111434"
    ],
    "unlinked_id_list": []
}
