{
    "disease_id": "DOID:0081016",
    "recommended_name": {
        "id": "DOID:0081016",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0081016",
        "name": "congenital fibrosis of the extraocular muscles 2",
        "description": "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "fibrosis of extraocular muscles, congenital, 2",
            "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene."
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "PHOX2A congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "fibrosis of extraocular muscles, congenital, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "fibrosis of extraocular muscles, congenital, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "CFEOM2",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "Feom2 locus",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "fibrosis of extraocular muscles, congenital, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:602078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602078",
            "name": "Fibrosis of extraocular muscles, congenital, 2",
            "description": "Fibrosis of extraocular muscles, congenital, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081016"
    ],
    "unlinked_id_list": []
}