{
    "disease_id": "DOID:0080102",
    "recommended_name": {
        "id": "DOID:0080102",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080102",
        "name": "congenital fiber-type disproportion",
        "description": "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs."
    },
    "synonyms": [
        {
            "id": "DOID:0080102",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080102",
            "name": "CFTD",
            "description": ""
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "congenital fiber-type disproportion myopathy",
            "description": "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur."
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "myopathy, congenital, with fiber-type disproportion; CFTD",
            "description": ""
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "CFTDM",
            "description": ""
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "myopathy, congenital with fiber-type disproportion",
            "description": ""
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "fiber-type disproportion myopathy, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "congenital fiber type disproportion",
            "description": ""
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "congenital Fiber-type disproportion",
            "description": ""
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "CFTD",
            "description": ""
        },
        {
            "id": "MONDO:0009711",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009711",
            "name": "myopathy, congenital, with fiber-type disproportion",
            "description": ""
        },
        {
            "id": "MIM:255310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255310",
            "name": "Myopathy, congenital, with fiber-type disproportion",
            "description": "Myopathy, congenital, with fiber-type disproportion"
        }
    ]
}