{
    "disease_id": "DOID:0111333",
    "recommended_name": {
        "id": "DOID:0111333",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111333",
        "name": "congenital myopathy 10A",
        "description": "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111333",
            "name": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset",
            "description": ""
        },
        {
            "id": "DOID:0111333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111333",
            "name": "EMARDD",
            "description": ""
        },
        {
            "id": "DOID:0111333",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111333",
            "name": "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "MEGF10-related myopathy",
            "description": "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy."
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "MEGF10 myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "MEGF10-related myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "congenital myopathy 10A, severe variant",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "EMARDD",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "early-onset myopathy, areflexia, respiratory distress and dysphagia",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "myopathy, areflexia, respiratory distress, and dysphagia, early-onset",
            "description": ""
        },
        {
            "id": "MIM:614399",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614399",
            "name": "Congenital myopathy 10A, severe variant",
            "description": "Congenital myopathy 10A, severe variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111333"
    ],
    "unlinked_id_list": []
}