{"_id":"MONDO:0007827","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"53-03-2","chemical_name":"Prednisone","direct_evidence":"therapeutic","mesh_chemical_id":"D011241","pubmed":"7617187","source":"CTD"},{"cas_registry_number":"79902-63-9","chemical_name":"Simvastatin","direct_evidence":"marker/mechanism","mesh_chemical_id":"D019821","pubmed":"19670387","source":"CTD"}],"mesh":"D018979","pathway_related_to_disease":[{"inference_gene_symbol":"GNE","kegg_pathway_id":"hsa00520","pathway_name":"Amino sugar and nucleotide sugar metabolism","source":"CTD"},{"inference_gene_symbol":"GNE","kegg_pathway_id":"hsa01100","pathway_name":"Metabolic pathways","source":"CTD"},{"inference_gene_symbol":"GNE","pathway_name":"Metabolism of proteins","react_pathway_id":"R-HSA-392499","source":"CTD"},{"inference_gene_symbol":"GNE","pathway_name":"Sialic acid metabolism","react_pathway_id":"R-HSA-4085001","source":"CTD"},{"inference_gene_symbol":"GNE","pathway_name":"Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein","react_pathway_id":"R-HSA-446193","source":"CTD"},{"inference_gene_symbol":"GNE","pathway_name":"Asparagine N-linked glycosylation","react_pathway_id":"R-HSA-446203","source":"CTD"},{"inference_gene_symbol":"GNE","pathway_name":"Synthesis of substrates in N-glycan biosythesis","react_pathway_id":"R-HSA-446219","source":"CTD"},{"inference_gene_symbol":"GNE","pathway_name":"Post-translational protein modification","react_pathway_id":"R-HSA-597592","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:66","DOID:4","DOID:0080000","DOID:17","DOID:423","DOID:633","DOID:7"],"children":[],"def":"\"A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.\" [url:http\\://en.wikipedia.org/wiki/Inclusion_body_myositis, url:https\\://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy]","descendants":[],"doid":"DOID:3429","name":"inclusion body myositis","parents":["DOID:633"],"synonyms":{},"xrefs":{"gard":"3896","icd10":"G72.41","icd9":"359.71","mesh":"D018979","mim":"147421","ncit":"C84786","ordo":"611","snomedct_us_2025_09_01":"72315009","umls_cui":"C0238190"}},"hpo":[{"clinical_course":{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"TAS","hpo_id":"HP:0003677","hpo_name":"Slowly progressive","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"},"disease_name":"Inclusion body myositis","inheritance":[{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"TAS","hpo_id":"HP:0003745","hpo_name":"Sporadic","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"}],"omim":"147421","phenotype_related_to_disease":[{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001265","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"TAS","hpo_id":"HP:0002015","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"},{"biocuration":{"date":"2015-12-30","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0002460","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"TAS","hpo_id":"HP:0003805","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"TAS","hpo_id":"HP:0003701","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"TAS","hpo_id":"HP:0009071","omim_refs":"OMIM:147421","original_disease_id":"OMIM:147421"}]},{"disease_name":"Inclusion body myositis","orphanet":"611","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002960","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003200","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003202","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003236","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003457","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003701","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003731","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003805","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004303","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0009071","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001315","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0008872","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0034153","orphanet_refs":"orphanet:611"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003326","orphanet_refs":"orphanet:611"}]}],"mondo":{"ancestors":["MONDO:7770007","MONDO:0003939","MONDO:0700096","MONDO:0002081","MONDO:0021166","MONDO:0000001","MONDO:0020120","MONDO:0005336","MONDO:7770006","MONDO:0021167"],"children":["MONDO:0011577","MONDO:0011603"],"definition":"A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features. [https://orcid.org/0000-0001-5208-3432, Orphanet:611]","descendants":["MONDO:0019195","MONDO:0011577","MONDO:0011603","MONDO:0018206"],"label":"inclusion body myositis","mondo":"MONDO:0007827","parents":["MONDO:0021167"],"synonym":{"exact":["IBM","inclusion body myositis","sIBM","Sporadic Inclusion Body Myositis","sporadic inclusion body myositis"],"related":["inflammatory myopathy"]},"xrefs":{"doid":["DOID:3429"],"efo":["EFO:0007323"],"gard":["0003896"],"icd10cm":["G72.41"],"icd9":["729.1","359.71"],"meddra":["10066407"],"medgen":["68659"],"mesh":["D018979"],"nando":["1200218","1200032"],"ncit":["C84786"],"nord":["1734"],"omim":["147421"],"orphanet":["611"],"sctid":["72315009"],"umls":["C0238190"]}},"original_id":"orphanet:611","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"non-preferred":"G72.41"},"icd9cm":{"preferred":"359.71"},"mesh":{"preferred":"D018979"},"nci":{"preferred":"C84786"},"snomed":{"non-preferred":"72315009","preferred":"72315009"},"umls":"C0238190"}}