{
    "disease_id": "DOID:0081335",
    "recommended_name": {
        "id": "DOID:0081335",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081335",
        "name": "Becker disease",
        "description": "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0009715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009715",
            "name": "myotonia congenita, autosomal recessive",
            "description": "Autosomal recessive form of myotonia congenita."
        },
        {
            "id": "MONDO:0009715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009715",
            "name": "autosomal recessive myotonia congenita",
            "description": ""
        },
        {
            "id": "MONDO:0009715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009715",
            "name": "myotonia congenita, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009715",
            "name": "myotonia congenita, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009715",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009715",
            "name": "myotonia, generalised",
            "description": ""
        },
        {
            "id": "MONDO:0100468",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100468",
            "name": "Batten-Turner congenital myopathy",
            "description": "A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy."
        },
        {
            "id": "MIM:255700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255700",
            "name": "Myotonia congenita, autosomal recessive",
            "description": "Myotonia congenita, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081335"
    ],
    "unlinked_id_list": []
}