{
    "disease_id": "DOID:0080143",
    "recommended_name": {
        "id": "DOID:0080143",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080143",
        "name": "congenital fibrosis of the extraocular muscles",
        "description": "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position."
    },
    "synonyms": [
        {
            "id": "DOID:0080143",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080143",
            "name": "Tukel syndrome",
            "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": "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": "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, with or without extraocular involvement; CFEOM3A",
            "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": "MONDO:0010912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010912",
            "name": "Feom3 locus",
            "description": ""
        },
        {
            "id": "MONDO:0010912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010912",
            "name": "TUBB3 congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "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": "fibrosis of extraocular muscles, congenital, type 2",
            "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": "Feom2 locus",
            "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, autosomal recessive",
            "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": "fibrosis of extraocular muscles, congenital, 2; CFEOM2",
            "description": ""
        },
        {
            "id": "MONDO:0011181",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011181",
            "name": "PHOX2A congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "congenital fibrosis of extraocular muscles type 1",
            "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene."
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "fibrosis of extraocular muscles, congenital, 3B",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "fibrosis of extraocular muscles, congenital, 1; CFEOM1",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "fibrosis of extraocular muscles, congenital, 1",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "CFEOM1",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "congenital fibrosis of extraocular muscles caused by mutation in KIF21A",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "KIF21A congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "ophthalmoplegia, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "blepharoptosis with absent eye movements",
            "description": ""
        },
        {
            "id": "MONDO:0021083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021083",
            "name": "Feom1 locus",
            "description": ""
        },
        {
            "id": "MONDO:0012262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012262",
            "name": "CFEOM3C",
            "description": ""
        },
        {
            "id": "MONDO:0012262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012262",
            "name": "fibrosis of extraocular muscles, congenital, 3C; CFEOM3C",
            "description": ""
        },
        {
            "id": "MONDO:0012262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012262",
            "name": "fibrosis of extraocular muscles, congenital, 3C",
            "description": ""
        },
        {
            "id": "MONDO:0012262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012262",
            "name": "Feom4 locus",
            "description": ""
        },
        {
            "id": "MONDO:0012262",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012262",
            "name": "CFEOM3C",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "fibrosis of extraocular muscles, congenital, 5",
            "description": "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene."
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "CFEOM5",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "fibrosis of extraocular muscles, congenital, 5; CFEOM5",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "congenital fibrosis of extraocular muscles caused by mutation in COL25A1",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "COL25A1 congenital fibrosis of extraocular muscles",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "fibrosis of extraocular muscles, congenital, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014538",
            "name": "fibrosis of extraocular muscles, congenital, 5",
            "description": ""
        },
        {
            "id": "MONDO:0012270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012270",
            "name": "Tukel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012270",
            "name": "Tukel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012270",
            "name": "fibrosis of extraocular muscles, congenital, 4",
            "description": ""
        },
        {
            "id": "MONDO:0012270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012270",
            "name": "fibrosis of extraocular muscles, congenital, with ulnar hand anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0012270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012270",
            "name": "congenital extraocular muscle fibrosis with ulnar hand anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0012270",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012270",
            "name": "Cfeom-U",
            "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"
        },
        {
            "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"
        },
        {
            "id": "MIM:135700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/135700",
            "name": "Fibrosis of extraocular muscles, congenital, 1",
            "description": "Fibrosis of extraocular muscles, congenital, 1"
        },
        {
            "id": "MIM:616219",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616219",
            "name": "Fibrosis of extraocular muscles, congenital, 5",
            "description": "Fibrosis of extraocular muscles, congenital, 5"
        }
    ]
}