{
    "disease_id": "DOID:0080687",
    "recommended_name": {
        "id": "DOID:0080687",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080687",
        "name": "reducing body myopathy 1B",
        "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 late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "MONDO:0010415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010415",
            "name": "myopathy, reducing body, X-linked, childhood-onset",
            "description": ""
        },
        {
            "id": "MONDO:0010415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010415",
            "name": "myopathy, reducing body, X-linked, childhood-onset",
            "description": ""
        },
        {
            "id": "MONDO:0010415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010415",
            "name": "RBMX1B",
            "description": ""
        },
        {
            "id": "MIM:300718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300718",
            "name": "Reducing body myopathy, X-linked 1B, with late childhood or adult onset",
            "description": "Reducing body myopathy, X-linked 1B, with late childhood or adult onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080687"
    ],
    "unlinked_id_list": []
}