{
    "disease_id": "DOID:0080090", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010414", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010414", 
            "name": "myopathy, reducing body, X-linked, early-onset, severe"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010414", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010414", 
            "name": "RBMX1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010414", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010414", 
            "name": "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010414", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010414", 
            "name": "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset; RBMX1A"
        }, 
        {
            "url": "https://www.omim.org/entry/300717", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:300717", 
            "name": "Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080090", 
        "description": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080090", 
        "name": "reducing body myopathy 1A"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/300717", 
            "id": "300717", 
            "database": "MIM"
        }
    ]
}