{
    "disease_id": "DOID:0080718",
    "recommended_name": {
        "id": "DOID:0080718",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080718",
        "name": "GNE myopathy",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080718",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080718",
            "name": "Distal myopathy, Nonaka type",
            "description": ""
        },
        {
            "id": "DOID:0080718",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080718",
            "name": "Nonaka myopathy",
            "description": ""
        },
        {
            "id": "DOID:0080718",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080718",
            "name": "Distal Myopathy with Rimmed Vacuoles",
            "description": ""
        },
        {
            "id": "DOID:0080718",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080718",
            "name": "Hereditary Inclusion Body Myopathy",
            "description": ""
        },
        {
            "id": "DOID:0080718",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080718",
            "name": "inclusion body myopathy 2",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "GNE myopathy",
            "description": "Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps."
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "Nonaka myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "inclusion body myopathy 2, autosomal recessive, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "IBM2",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "inclusion body myopathy autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "inclusion body myopathy 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "DMRV",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "distal myopathy, Nonaka type",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "inclusion body myopathy, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "myopathy, distal, with or without rimmed vacuoles",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "rimmed vacuole myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "Nonaka myopathy; NM",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "distal myopathy with rimmed vacuoles",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "Nonaka distal myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "hereditary inclusion body myopathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "inclusion body myopathy, quadriceps-sparing",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "quadriceps-sparing myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "NM",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "HIBM2",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "QSM",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "quadriceps sparing myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "inclusion body myopathy, hereditary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "inclusion body myopathy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011603",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "name": "myopathy, distal, with rimmed vacuoles",
            "description": ""
        },
        {
            "id": "MONDO:0014945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014945",
            "name": "myopathy, distal, with rimmed vacuoles",
            "description": ""
        },
        {
            "id": "MONDO:0014945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014945",
            "name": "myopathy, distal, with rimmed vacuoles",
            "description": ""
        },
        {
            "id": "MONDO:0014945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014945",
            "name": "myopathy, distal, with rimmed vacuoles; DMRV",
            "description": ""
        },
        {
            "id": "MONDO:0014945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014945",
            "name": "DMRV",
            "description": ""
        },
        {
            "id": "MIM:605820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605820",
            "name": "Nonaka myopathy",
            "description": "Nonaka myopathy"
        },
        {
            "id": "MIM:617158",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617158",
            "name": "Myopathy, distal, with rimmed vacuoles",
            "description": "Myopathy, distal, with rimmed vacuoles"
        }
    ]
}