{
    "disease_id": "DOID:0111333", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013731", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013731", 
            "name": "myopathy, areflexia, respiratory distress, and dysphagia, early-onset"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013731", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013731", 
            "name": "early-onset myopathy, areflexia, respiratory distress and dysphagia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013731", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013731", 
            "name": "myopathy, areflexia, respiratory distress, and dysphagia, early-onset; EMARDD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013731", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013731", 
            "name": "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013731", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013731", 
            "name": "EMARDD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111333", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111333", 
            "name": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111333", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111333", 
            "name": "EMARDD"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111333", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111333", 
        "name": "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111333#disease-associations", 
            "id": "0111333", 
            "database": "Alliance of Genome Resources"
        }
    ]
}