{
    "disease_id": "DOID:0081339",
    "recommended_name": {
        "id": "DOID:0081339",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081339",
        "name": "congenital myopathy 2B",
        "description": "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0081339",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081339",
            "name": "autosomal recessive congenital myopathy 2B",
            "description": ""
        },
        {
            "id": "MONDO:0859517",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859517",
            "name": "congenital myopathy 2b, severe infantile, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:620265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620265",
            "name": "Congenital myopathy 2B, severe infantile, autosomal recessive",
            "description": "Congenital myopathy 2B, severe infantile, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081339"
    ],
    "unlinked_id_list": []
}