{
    "disease_id": "DOID:0081341",
    "recommended_name": {
        "id": "DOID:0081341",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081341",
        "name": "congenital myopathy 5",
        "description": "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0081341",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081341",
            "name": "Salih myopathy",
            "description": ""
        },
        {
            "id": "DOID:0081341",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081341",
            "name": "congenital myopathy-5 with cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012714",
            "name": "early-onset myopathy with fatal cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012714",
            "name": "Salih myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012714",
            "name": "EOMFC",
            "description": ""
        },
        {
            "id": "MONDO:0012714",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012714",
            "name": "SALMY",
            "description": ""
        },
        {
            "id": "MIM:611705",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611705",
            "name": "Congenital myopathy 5 with cardiomyopathy",
            "description": "Congenital myopathy 5 with cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081341"
    ],
    "unlinked_id_list": []
}