{
    "disease_id": "DOID:0081340",
    "recommended_name": {
        "id": "DOID:0081340",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081340",
        "name": "congenital myopathy 2C",
        "description": "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B)."
    },
    "synonyms": [
        {
            "id": "DOID:0081340",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081340",
            "name": "autosomal dominant severe infantile congenital myopathy 2C",
            "description": ""
        },
        {
            "id": "MONDO:0859523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859523",
            "name": "congenital myopathy 2c, severe infantile, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:620278",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620278",
            "name": "Congenital myopathy 2C, severe infantile, autosomal dominant",
            "description": "Congenital myopathy 2C, severe infantile, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081340"
    ],
    "unlinked_id_list": []
}