{
    "disease_id": "DOID:0111224",
    "recommended_name": {
        "id": "DOID:0111224",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111224",
        "name": "centronuclear myopathy 4",
        "description": "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111224",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111224",
            "name": "CNM4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "congenital myopathy with internal nuclei and atypical cores",
            "description": "Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients."
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "myopathy, centronuclear, 4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "centronuclear myopathy type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "myopathy, centronuclear, 4; CNM4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "CNM4",
            "description": ""
        },
        {
            "id": "MONDO:0013890",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013890",
            "name": "myopathy, centronuclear, type 4",
            "description": ""
        },
        {
            "id": "MIM:614807",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614807",
            "name": "Myopathy, centronuclear, 4",
            "description": "Myopathy, centronuclear, 4"
        }
    ]
}