{
    "disease_id": "DOID:0111443",
    "recommended_name": {
        "id": "DOID:0111443",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111443",
        "name": "optic atrophy 2",
        "description": "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111443",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111443",
            "name": "OPA2",
            "description": ""
        },
        {
            "id": "DOID:0111443",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111443",
            "name": "X-linked optic atrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0010698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010698",
            "name": "optic atrophy 2",
            "description": "Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected."
        },
        {
            "id": "MONDO:0010698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010698",
            "name": "optic atrophy 2; OPA2",
            "description": ""
        },
        {
            "id": "MONDO:0010698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010698",
            "name": "optic atrophy, non-Leber type, with early onset",
            "description": ""
        },
        {
            "id": "MONDO:0010698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010698",
            "name": "optic atrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010698",
            "name": "non-Leber type optic atrophy with early-onset",
            "description": ""
        },
        {
            "id": "MONDO:0010698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010698",
            "name": "optic atrophy, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010698",
            "name": "OPA2",
            "description": ""
        },
        {
            "id": "MONDO:0010698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010698",
            "name": "optic atrophy 2",
            "description": ""
        }
    ]
}