{
    "disease_id": "DOID:0081351",
    "recommended_name": {
        "id": "DOID:0081351",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081351",
        "name": "congenital myopathy 19",
        "description": "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0032821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032821",
            "name": "myopathy, congenital, progressive, with scoliosis",
            "description": ""
        },
        {
            "id": "MONDO:0032821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032821",
            "name": "MYOSCO",
            "description": ""
        },
        {
            "id": "MONDO:0032821",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032821",
            "name": "myopathy, congenital, progressive, with scoliosis",
            "description": ""
        },
        {
            "id": "MIM:618578",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618578",
            "name": "Congenital myopathy 19",
            "description": "Congenital myopathy 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081351"
    ],
    "unlinked_id_list": []
}