{
    "disease_id": "DOID:0081017",
    "recommended_name": {
        "id": "DOID:0081017",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081017",
        "name": "congenital fibrosis of the extraocular muscles 3A",
        "description": "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0010912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010912",
            "name": "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",
            "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene."
        },
        {
            "id": "MONDO:0010912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010912",
            "name": "TUBB3 congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "id": "MONDO:0010912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010912",
            "name": "congenital fibrosis of extraocular muscles caused by mutation in TUBB3",
            "description": ""
        },
        {
            "id": "MONDO:0010912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010912",
            "name": "fibrosis of extraocular muscles, congenital, 3A",
            "description": ""
        },
        {
            "id": "MONDO:0010912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010912",
            "name": "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0010912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010912",
            "name": "CFEOM3A",
            "description": ""
        },
        {
            "id": "MIM:600638",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600638",
            "name": "Fibrosis of extraocular muscles, congenital, 3A",
            "description": "Fibrosis of extraocular muscles, congenital, 3A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081017"
    ],
    "unlinked_id_list": []
}