{
    "disease_id": "DOID:0080718", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014945", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014945", 
            "name": "myopathy, distal, with rimmed vacuoles"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014945", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014945", 
            "name": "myopathy, distal, with rimmed vacuoles; DMRV"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014945", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014945", 
            "name": "DMRV"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080718", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080718", 
            "name": "Distal myopathy, Nonaka type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080718", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080718", 
            "name": "Nonaka myopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080718", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080718", 
            "name": "Distal Myopathy with Rimmed Vacuoles"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080718", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080718", 
            "name": "Hereditary Inclusion Body Myopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080718", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080718", 
            "name": "inclusion body myopathy 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080718", 
        "description": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080718", 
        "name": "GNE myopathy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080718#disease-associations", 
            "id": "0080718", 
            "database": "Alliance of Genome Resources"
        }
    ]
}