{
    "disease_id": "DOID:0080718",
    "recommended_name": {
        "id": "DOID:0080718",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0080718",
            "name": "Distal myopathy, Nonaka type",
            "description": ""
        },
        {
            "id": "DOID:0080718",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080718",
            "name": "Hereditary Inclusion Body Myopathy",
            "description": ""
        },
        {
            "id": "DOID:0080718",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080718",
            "name": "Nonaka myopathy",
            "description": ""
        },
        {
            "id": "DOID:0080718",
            "resource": "Disease Ontology",
            "url": "https://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": "DMRV",
            "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": "IBM2",
            "description": ""
        },
        {
            "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": "distal myopathy with rimmed vacuoles",
            "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": "hereditary inclusion body myopathy type 2",
            "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 type 2",
            "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": "QSM",
            "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": "inclusion body myopathy, autosomal recessive",
            "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": "rimmed vacuole myopathy",
            "description": ""
        },
        {
            "id": "MIM:605820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605820",
            "name": "Nonaka myopathy",
            "description": "Nonaka myopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080718"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080718",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080718",
            "categories": []
        },
        {
            "id": "MONDO:0011603",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011603",
            "categories": []
        },
        {
            "id": "MIM:605820",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605820",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y223-1",
            "uniprot_ac": "Q9Y223",
            "uniprot_id": "GLCNE_HUMAN",
            "refseq_ac": "NP_001121699",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                    "type": "recommended"
                },
                {
                    "name": "ManAc kinase",
                    "type": "synonym"
                },
                {
                    "name": "N-acylmannosamine kinase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc-2-epimerase/ManAc kinase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc-2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "Uridine diphosphate-N-acetylglucosamine-2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNE",
                    "type": "recommended"
                },
                {
                    "name": "DMRV",
                    "type": "synonym"
                },
                {
                    "name": "GLCNE",
                    "type": "synonym"
                },
                {
                    "name": "GNE",
                    "type": "synonym"
                },
                {
                    "name": "IBM2",
                    "type": "synonym"
                },
                {
                    "name": "NM",
                    "type": "synonym"
                },
                {
                    "name": "THC12",
                    "type": "synonym"
                },
                {
                    "name": "Uae1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y223-1",
            "evidence": [
                {
                    "id": "10020",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/10020#disease"
                },
                {
                    "id": "0011603",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011603"
                },
                {
                    "id": "605820",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605820"
                },
                {
                    "id": "GNE",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GNE/#!details"
                },
                {
                    "id": "0080718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T4X8-1",
            "uniprot_ac": "A0AB32T4X8",
            "uniprot_id": "A0AB32T4X8_DANRE",
            "refseq_ac": "XP_068070496",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.60",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.183",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc-2-epimerase/ManAc kinase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gne",
                    "type": "recommended"
                },
                {
                    "name": "gne",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77657",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T4X8-1",
            "evidence": [
                {
                    "id": "0080718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91WG8-1",
            "uniprot_ac": "Q91WG8",
            "uniprot_id": "GLCNE_MOUSE",
            "refseq_ac": "NP_001177343",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                    "type": "recommended"
                },
                {
                    "name": "ManAc kinase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc-2-epimerase/ManAc kinase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc-2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "Uridine diphosphate-N-acetylglucosamine-2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gne",
                    "type": "recommended"
                },
                {
                    "name": "2310066H07Rik",
                    "type": "synonym"
                },
                {
                    "name": "DMRV",
                    "type": "synonym"
                },
                {
                    "name": "GLCNE",
                    "type": "synonym"
                },
                {
                    "name": "Glcne",
                    "type": "synonym"
                },
                {
                    "name": "Gne",
                    "type": "synonym"
                },
                {
                    "name": "IBM2",
                    "type": "synonym"
                },
                {
                    "name": "NM",
                    "type": "synonym"
                },
                {
                    "name": "Uae1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91WG8-1",
            "evidence": [
                {
                    "id": "0080718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35826-1",
            "uniprot_ac": "O35826",
            "uniprot_id": "GLCNE_RAT",
            "refseq_ac": "NP_446217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                    "type": "recommended"
                },
                {
                    "name": "ManAc kinase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc-2-epimerase/ManAc kinase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-GlcNAc-2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase",
                    "type": "synonym"
                },
                {
                    "name": "Uridine diphosphate-N-acetylglucosamine-2-epimerase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase",
                    "type": "synonym"
                },
                {
                    "name": "rEpi",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gne",
                    "type": "recommended"
                },
                {
                    "name": "Glcne",
                    "type": "synonym"
                },
                {
                    "name": "Gne",
                    "type": "synonym"
                },
                {
                    "name": "Uae1",
                    "type": "synonym"
                }
            ],
            "record_id": "O35826-1",
            "evidence": [
                {
                    "id": "0080718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080718"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080718"
}