{
    "disease_id": "DOID:0050760",
    "recommended_name": {
        "id": "DOID:0050760",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050760",
        "name": "X-linked myopathy with excessive autophagy",
        "description": "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0050760",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050760",
            "name": "XMEA",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "X-linked myopathy with excessive autophagy",
            "description": "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings."
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "XMEA",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "MEAX",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "vacuolar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "myopathy, X-linked, with excessive autophagy",
            "description": ""
        },
        {
            "id": "MONDO:0010684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010684",
            "name": "myopathy, X-linked, with excessive autophagy; MEAX",
            "description": ""
        },
        {
            "id": "MIM:310440",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/310440",
            "name": "Myopathy, X-linked, with excessive autophagy",
            "description": "Myopathy, X-linked, with excessive autophagy"
        }
    ]
}