{
    "disease_id": "DOID:0061258",
    "recommended_name": {
        "id": "DOID:0061258",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061258",
        "name": "congenital myopathy 27",
        "description": "A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0979897",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979897",
            "name": "congenital myopathy 27",
            "description": ""
        },
        {
            "id": "MIM:621343",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621343",
            "name": "Congenital myopathy 27",
            "description": "Congenital myopathy 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061258"
    ],
    "unlinked_id_list": []
}