{
    "disease_id": "DOID:0111333",
    "recommended_name": {
        "id": "DOID:0111333",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111333",
        "name": "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome",
        "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": "http://disease-ontology.org/term/DOID:0111333",
            "name": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset",
            "description": ""
        },
        {
            "id": "DOID:0111333",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111333",
            "name": "EMARDD",
            "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": "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": "myopathy, areflexia, respiratory distress, and dysphagia, early-onset; EMARDD",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant",
            "description": ""
        },
        {
            "id": "MONDO:0013731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013731",
            "name": "EMARDD",
            "description": ""
        },
        {
            "id": "MIM:614399",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614399",
            "name": "Myopathy, early-onset, areflexia, respiratory distress, and dysphagia",
            "description": "Myopathy, early-onset, areflexia, respiratory distress, and dysphagia"
        }
    ]
}