{"_id":"MONDO:0009061","_version":1,"ctd":{"chemical_related_to_disease":[{"chemical_name":"5-O-(5-amino-5-deoxyribofuranosyl)-1N-(4-amino-2-hydroxybutanoyl)paromamine","direct_evidence":"therapeutic","mesh_chemical_id":"C540944","pubmed":"19309154","source":"CTD"},{"cas_registry_number":"616-91-1","chemical_name":"Acetylcysteine","direct_evidence":"therapeutic","mesh_chemical_id":"D000111","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"37517-28-5","chemical_name":"Amikacin","direct_evidence":"therapeutic","mesh_chemical_id":"D000583","pubmed":["18613859","19747007"],"source":"CTD"},{"chemical_name":"Aminoglycosides","direct_evidence":"therapeutic","mesh_chemical_id":"D000617","pubmed":"9424574","source":"CTD"},{"chemical_name":"Anti-Bacterial Agents","direct_evidence":"therapeutic","mesh_chemical_id":"D000900","pubmed":"11916752","source":"CTD"},{"cas_registry_number":"78110-38-0","chemical_name":"Aztreonam","direct_evidence":"therapeutic","mesh_chemical_id":"D001398","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"85721-33-1","chemical_name":"Ciprofloxacin","direct_evidence":"therapeutic","mesh_chemical_id":"D002939","pubmed":["19747007","3555062"],"source":"CTD"},{"cas_registry_number":"1066-17-7","chemical_name":"Colistin","direct_evidence":"therapeutic","mesh_chemical_id":"D003091","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"16679-58-6","chemical_name":"Deamino Arginine Vasopressin","direct_evidence":"therapeutic","mesh_chemical_id":"D003894","pubmed":"3147111","source":"CTD"},{"chemical_name":"denufosol tetrasodium","direct_evidence":"therapeutic","mesh_chemical_id":"C465279","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"75-18-3","chemical_name":"dimethyl sulfide","direct_evidence":"marker/mechanism","mesh_chemical_id":"C004784","pubmed":"16455833","source":"CTD"},{"cas_registry_number":"25167-62-8","chemical_name":"Docosahexaenoic Acids","direct_evidence":"therapeutic","mesh_chemical_id":"D004281","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"23155-02-4","chemical_name":"Fosfomycin","direct_evidence":"therapeutic","mesh_chemical_id":"D005578","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"70-18-8","chemical_name":"Glutathione","direct_evidence":"therapeutic","mesh_chemical_id":"D005978","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"118-42-3","chemical_name":"Hydroxychloroquine","direct_evidence":"therapeutic","mesh_chemical_id":"D006886","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"15687-27-1","chemical_name":"Ibuprofen","direct_evidence":"therapeutic","mesh_chemical_id":"D007052","pubmed":"9424574","source":"CTD"},{"chemical_name":"ivacaftor","direct_evidence":"therapeutic","mesh_chemical_id":"C545203","pubmed":["21083385","21303308","22047557","25946147"],"source":"CTD"},{"chemical_name":"Lansoprazole","direct_evidence":"therapeutic","mesh_chemical_id":"D064747","pubmed":"9641739","source":"CTD"},{"cas_registry_number":"59-05-2","chemical_name":"Methotrexate","direct_evidence":"marker/mechanism","mesh_chemical_id":"D008727","pubmed":"2388211","source":"CTD"},{"cas_registry_number":"59-05-2","chemical_name":"Methotrexate","direct_evidence":"therapeutic","mesh_chemical_id":"D008727","pubmed":"19747007","source":"CTD"},{"chemical_name":"miglustat","direct_evidence":"therapeutic","mesh_chemical_id":"C059896","pubmed":"19299496","source":"CTD"},{"chemical_name":"Moli1901","direct_evidence":"therapeutic","mesh_chemical_id":"C477246","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"21829-25-4","chemical_name":"Nifedipine","direct_evidence":"therapeutic","mesh_chemical_id":"D009543","pubmed":"6476600","source":"CTD"},{"cas_registry_number":"82419-36-1","chemical_name":"Ofloxacin","direct_evidence":"therapeutic","mesh_chemical_id":"D015242","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"109-66-0","chemical_name":"pentane","direct_evidence":"marker/mechanism","mesh_chemical_id":"C033353","pubmed":"16455833","source":"CTD"},{"cas_registry_number":"111025-46-8","chemical_name":"Pioglitazone","direct_evidence":"therapeutic","mesh_chemical_id":"D000077205","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"61477-96-1","chemical_name":"Piperacillin","direct_evidence":"therapeutic","mesh_chemical_id":"D010878","pubmed":"12366773","source":"CTD"},{"chemical_name":"Sildenafil Citrate","direct_evidence":"therapeutic","mesh_chemical_id":"D000068677","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"79902-63-9","chemical_name":"Simvastatin","direct_evidence":"therapeutic","mesh_chemical_id":"D019821","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"32986-56-4","chemical_name":"Tobramycin","direct_evidence":"therapeutic","mesh_chemical_id":"D014031","pubmed":"19747007","source":"CTD"},{"cas_registry_number":"128-13-2","chemical_name":"Ursodeoxycholic Acid","direct_evidence":"therapeutic","mesh_chemical_id":"D014580","pubmed":"2391071","source":"CTD"},{"cas_registry_number":"107753-78-6","chemical_name":"zafirlukast","direct_evidence":"therapeutic","mesh_chemical_id":"C062735","pubmed":"15463842","source":"CTD"}],"mesh":"D003550","pathway_related_to_disease":[{"inference_gene_symbol":"CFTR","kegg_pathway_id":"hsa02010","pathway_name":"ABC transporters","source":"CTD"},{"inference_gene_symbol":["TGFB1","TNFRSF1A"],"kegg_pathway_id":"hsa04010","pathway_name":"MAPK signaling pathway","source":"CTD"},{"inference_gene_symbol":"CFTR","kegg_pathway_id":"hsa04024","pathway_name":"cAMP signaling pathway","source":"CTD"},{"inference_gene_symbol":["TGFB1","TNFRSF1A"],"kegg_pathway_id":"hsa04060","pathway_name":"Cytokine-cytokine receptor interaction","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa04064","pathway_name":"NF-kappa B signaling pathway","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04068","pathway_name":"FoxO signaling pathway","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa04071","pathway_name":"Sphingolipid signaling pathway","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04110","pathway_name":"Cell cycle","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04144","pathway_name":"Endocytosis","source":"CTD"},{"inference_gene_symbol":"FCGR2A","kegg_pathway_id":"hsa04145","pathway_name":"Phagosome","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa04150","pathway_name":"mTOR signaling pathway","source":"CTD"},{"inference_gene_symbol":"CFTR","kegg_pathway_id":"hsa04152","pathway_name":"AMPK signaling pathway","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa04210","pathway_name":"Apoptosis","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa04215","pathway_name":"Apoptosis - multiple species","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04350","pathway_name":"TGF-beta signaling pathway","source":"CTD"},{"inference_gene_symbol":["FCGR2A","TGFB1","TNFRSF1A"],"kegg_pathway_id":"hsa04380","pathway_name":"Osteoclast differentiation","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04390","pathway_name":"Hippo signaling pathway","source":"CTD"},{"inference_gene_symbol":"CFTR","kegg_pathway_id":"hsa04530","pathway_name":"Tight junction","source":"CTD"},{"inference_gene_symbol":"FCGR2A","kegg_pathway_id":"hsa04611","pathway_name":"Platelet activation","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04659","pathway_name":"Th17 cell differentiation","source":"CTD"},{"inference_gene_symbol":"FCGR2A","kegg_pathway_id":"hsa04666","pathway_name":"Fc gamma R-mediated phagocytosis","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa04668","pathway_name":"TNF signaling pathway","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04672","pathway_name":"Intestinal immune network for IgA production","source":"CTD"},{"inference_gene_symbol":["SCNN1A","SCNN1B","SCNN1G"],"kegg_pathway_id":"hsa04742","pathway_name":"Taste transduction","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa04920","pathway_name":"Adipocytokine signaling pathway","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa04931","pathway_name":"Insulin resistance","source":"CTD"},{"inference_gene_symbol":["TGFB1","TNFRSF1A"],"kegg_pathway_id":"hsa04932","pathway_name":"Non-alcoholic fatty liver disease (NAFLD)","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04933","pathway_name":"AGE-RAGE signaling pathway in diabetic complications","source":"CTD"},{"inference_gene_symbol":["SCNN1A","SCNN1B","SCNN1G"],"kegg_pathway_id":"hsa04960","pathway_name":"Aldosterone-regulated sodium reabsorption","source":"CTD"},{"inference_gene_symbol":"DCTN4","kegg_pathway_id":"hsa04962","pathway_name":"Vasopressin-regulated water reabsorption","source":"CTD"},{"inference_gene_symbol":"CFTR","kegg_pathway_id":"hsa04971","pathway_name":"Gastric acid secretion","source":"CTD"},{"inference_gene_symbol":"CFTR","kegg_pathway_id":"hsa04972","pathway_name":"Pancreatic secretion","source":"CTD"},{"inference_gene_symbol":"CFTR","kegg_pathway_id":"hsa04976","pathway_name":"Bile secretion","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa05010","pathway_name":"Alzheimer's disease","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa05014","pathway_name":"Amyotrophic lateral sclerosis (ALS)","source":"CTD"},{"inference_gene_symbol":"DCTN4","kegg_pathway_id":"hsa05016","pathway_name":"Huntington's disease","source":"CTD"},{"inference_gene_symbol":"CFTR","kegg_pathway_id":"hsa05110","pathway_name":"Vibrio cholerae infection","source":"CTD"},{"inference_gene_symbol":["FCGR2A","TGFB1"],"kegg_pathway_id":"hsa05140","pathway_name":"Leishmaniasis","source":"CTD"},{"inference_gene_symbol":["TGFB1","TNFRSF1A"],"kegg_pathway_id":"hsa05142","pathway_name":"Chagas disease (American trypanosomiasis)","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05144","pathway_name":"Malaria","source":"CTD"},{"inference_gene_symbol":["TGFB1","TNFRSF1A"],"kegg_pathway_id":"hsa05145","pathway_name":"Toxoplasmosis","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05146","pathway_name":"Amoebiasis","source":"CTD"},{"inference_gene_symbol":"FCGR2A","kegg_pathway_id":"hsa05150","pathway_name":"Staphylococcus aureus infection","source":"CTD"},{"inference_gene_symbol":["FCGR2A","TGFB1","TNFRSF1A"],"kegg_pathway_id":"hsa05152","pathway_name":"Tuberculosis","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa05160","pathway_name":"Hepatitis C","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05161","pathway_name":"Hepatitis B","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa05164","pathway_name":"Influenza A","source":"CTD"},{"inference_gene_symbol":["TGFB1","TNFRSF1A"],"kegg_pathway_id":"hsa05166","pathway_name":"HTLV-I infection","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa05168","pathway_name":"Herpes simplex infection","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05200","pathway_name":"Pathways in cancer","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05205","pathway_name":"Proteoglycans in cancer","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05210","pathway_name":"Colorectal cancer","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05211","pathway_name":"Renal cell carcinoma","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05212","pathway_name":"Pancreatic cancer","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05220","pathway_name":"Chronic myeloid leukemia","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05321","pathway_name":"Inflammatory bowel disease (IBD)","source":"CTD"},{"inference_gene_symbol":"FCGR2A","kegg_pathway_id":"hsa05322","pathway_name":"Systemic lupus erythematosus","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05323","pathway_name":"Rheumatoid arthritis","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05410","pathway_name":"Hypertrophic cardiomyopathy (HCM)","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05414","pathway_name":"Dilated cardiomyopathy","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","kegg_pathway_id":"hsa05418","pathway_name":"Fluid shear stress and atherosclerosis","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa_M00680","pathway_name":"TGF-beta signaling","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Hemostasis","react_pathway_id":"R-HSA-109582","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Platelet degranulation","react_pathway_id":"R-HSA-114608","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Developmental Biology","react_pathway_id":"R-HSA-1266738","source":"CTD"},{"inference_gene_symbol":["TGFB1","TNFRSF1A"],"pathway_name":"Cytokine Signaling in Immune system","react_pathway_id":"R-HSA-1280215","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"Adaptive Immune System","react_pathway_id":"R-HSA-1280218","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Extracellular matrix organization","react_pathway_id":"R-HSA-1474244","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Elastic fibre formation","react_pathway_id":"R-HSA-1566948","source":"CTD"},{"inference_gene_symbol":["CFTR","TGFB1","TNFRSF1A"],"pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":["CFTR","TGFB1"],"pathway_name":"Disease","react_pathway_id":"R-HSA-1643685","source":"CTD"},{"inference_gene_symbol":"FCGR2A","pathway_name":"Innate Immune System","react_pathway_id":"R-HSA-168249","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Host Interactions with Influenza Factors","react_pathway_id":"R-HSA-168253","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Influenza Infection","react_pathway_id":"R-HSA-168254","source":"CTD"},{"inference_gene_symbol":["DCTN4","FCGR2A","TGFB1","TNFRSF1A"],"pathway_name":"Immune System","react_pathway_id":"R-HSA-168256","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Influenza Virus Induced Apoptosis","react_pathway_id":"R-HSA-168277","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Signaling by TGF-beta Receptor Complex","react_pathway_id":"R-HSA-170834","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"Signaling by Rho GTPases","react_pathway_id":"R-HSA-194315","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"RHO GTPase Effectors","react_pathway_id":"R-HSA-195258","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"ER to Golgi Anterograde Transport","react_pathway_id":"R-HSA-199977","source":"CTD"},{"inference_gene_symbol":["CFTR","DCTN4"],"pathway_name":"Membrane Trafficking","react_pathway_id":"R-HSA-199991","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Cell surface interactions at the vascular wall","react_pathway_id":"R-HSA-202733","source":"CTD"},{"inference_gene_symbol":"FCGR2A","pathway_name":"Fcgamma receptor (FCGR) dependent phagocytosis","react_pathway_id":"R-HSA-2029480","source":"CTD"},{"inference_gene_symbol":"FCGR2A","pathway_name":"FCGR activation","react_pathway_id":"R-HSA-2029481","source":"CTD"},{"inference_gene_symbol":"FCGR2A","pathway_name":"Regulation of actin dynamics for phagocytic cup formation","react_pathway_id":"R-HSA-2029482","source":"CTD"},{"inference_gene_symbol":"FCGR2A","pathway_name":"Role of phospholipids in phagocytosis","react_pathway_id":"R-HSA-2029485","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Molecules associated with elastic fibres","react_pathway_id":"R-HSA-2129379","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"MHC class II antigen presentation","react_pathway_id":"R-HSA-2132295","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Downregulation of TGF-beta receptor signaling","react_pathway_id":"R-HSA-2173788","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"TGF-beta receptor signaling activates SMADs","react_pathway_id":"R-HSA-2173789","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)","react_pathway_id":"R-HSA-2173791","source":"CTD"},{"inference_gene_symbol":["SCNN1A","SCNN1B","SCNN1G"],"pathway_name":"Stimuli-sensing channels","react_pathway_id":"R-HSA-2672351","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Syndecan interactions","react_pathway_id":"R-HSA-3000170","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Non-integrin membrane-ECM interactions","react_pathway_id":"R-HSA-3000171","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"ECM proteoglycans","react_pathway_id":"R-HSA-3000178","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Loss of Function of SMAD2/3 in Cancer","react_pathway_id":"R-HSA-3304349","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Signaling by TGF-beta Receptor Complex in Cancer","react_pathway_id":"R-HSA-3304351","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"SMAD2/3 Phosphorylation Motif Mutants in Cancer","react_pathway_id":"R-HSA-3304356","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"SMAD2/3 MH2 Domain Mutants in Cancer","react_pathway_id":"R-HSA-3315487","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Loss of Function of TGFBR2 in Cancer","react_pathway_id":"R-HSA-3642278","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"TGFBR2 MSI Frameshift Mutants in Cancer","react_pathway_id":"R-HSA-3642279","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"TGFBR2 Kinase Domain Mutants in Cancer","react_pathway_id":"R-HSA-3645790","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"TGFBR1 KD Mutants in Cancer","react_pathway_id":"R-HSA-3656532","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Loss of Function of TGFBR1 in Cancer","react_pathway_id":"R-HSA-3656534","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"TGFBR1 LBD Mutants in Cancer","react_pathway_id":"R-HSA-3656535","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Transcriptional regulation of white adipocyte differentiation","react_pathway_id":"R-HSA-381340","source":"CTD"},{"inference_gene_symbol":["CFTR","SCNN1A","SCNN1B","SCNN1G"],"pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"ABC-family proteins mediated transport","react_pathway_id":"R-HSA-382556","source":"CTD"},{"inference_gene_symbol":["CFTR","DCTN4","TGFB1"],"pathway_name":"Metabolism of proteins","react_pathway_id":"R-HSA-392499","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"Asparagine N-linked glycosylation","react_pathway_id":"R-HSA-446203","source":"CTD"},{"inference_gene_symbol":["TGFB1","TNFRSF1A"],"pathway_name":"Signaling by Interleukins","react_pathway_id":"R-HSA-449147","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"TNFR1-induced proapoptotic signaling","react_pathway_id":"R-HSA-5357786","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"Regulation of TNFR1 signaling","react_pathway_id":"R-HSA-5357905","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"TNFR1-induced NFkappaB signaling pathway","react_pathway_id":"R-HSA-5357956","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"ABC transporter disorders","react_pathway_id":"R-HSA-5619084","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"Disorders of transmembrane transporters","react_pathway_id":"R-HSA-5619115","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"TNFR1-mediated ceramide production","react_pathway_id":"R-HSA-5626978","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"RHO GTPases regulate CFTR trafficking","react_pathway_id":"R-HSA-5627083","source":"CTD"},{"inference_gene_symbol":["CFTR","DCTN4"],"pathway_name":"Vesicle-mediated transport","react_pathway_id":"R-HSA-5653656","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Diseases of signal transduction","react_pathway_id":"R-HSA-5663202","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Infectious disease","react_pathway_id":"R-HSA-5663205","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"TNFR2 non-canonical NF-kB pathway","react_pathway_id":"R-HSA-5668541","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"TNFs bind their physiological receptors","react_pathway_id":"R-HSA-5669034","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"Defective CFTR causes cystic fibrosis","react_pathway_id":"R-HSA-5678895","source":"CTD"},{"inference_gene_symbol":["CFTR","TGFB1"],"pathway_name":"Deubiquitination","react_pathway_id":"R-HSA-5688426","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"UCH proteinases","react_pathway_id":"R-HSA-5689603","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"Ub-specific processing proteases","react_pathway_id":"R-HSA-5689880","source":"CTD"},{"inference_gene_symbol":["CFTR","DCTN4","TGFB1"],"pathway_name":"Post-translational protein modification","react_pathway_id":"R-HSA-597592","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"Interleukin-10 signaling","react_pathway_id":"R-HSA-6783783","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Interleukin-4 and 13 signaling","react_pathway_id":"R-HSA-6785807","source":"CTD"},{"inference_gene_symbol":"FCGR2A","pathway_name":"Neutrophil degranulation","react_pathway_id":"R-HSA-6798695","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"COPI-mediated anterograde transport","react_pathway_id":"R-HSA-6807878","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"COPI-independent Golgi-to-ER retrograde traffic","react_pathway_id":"R-HSA-6811436","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"Intra-Golgi and retrograde Golgi-to-ER traffic","react_pathway_id":"R-HSA-6811442","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"Death Receptor Signalling","react_pathway_id":"R-HSA-73887","source":"CTD"},{"inference_gene_symbol":"TNFRSF1A","pathway_name":"TNF signaling","react_pathway_id":"R-HSA-75893","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Platelet activation, signaling and aggregation","react_pathway_id":"R-HSA-76002","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Response to elevated platelet cytosolic Ca2+","react_pathway_id":"R-HSA-76005","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"Golgi-to-ER retrograde transport","react_pathway_id":"R-HSA-8856688","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"Cargo recognition for clathrin-mediated endocytosis","react_pathway_id":"R-HSA-8856825","source":"CTD"},{"inference_gene_symbol":"CFTR","pathway_name":"Clathrin-mediated endocytosis","react_pathway_id":"R-HSA-8856828","source":"CTD"},{"inference_gene_symbol":"DCTN4","pathway_name":"Transport to the Golgi and subsequent modification","react_pathway_id":"R-HSA-948021","source":"CTD"},{"inference_gene_symbol":["SCNN1A","SCNN1B","SCNN1G"],"pathway_name":"Ion channel transport","react_pathway_id":"R-HSA-983712","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0050177","DOID:630","DOID:4","DOID:0050737","DOID:225","DOID:0050739"],"children":[],"def":"\"A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.\" [url:http\\://en.wikipedia.org/wiki/Cystic_fibrosis, url:http\\://ghr.nlm.nih.gov/condition/cystic-fibrosis, url:http\\://www.nhlbi.nih.gov/health/health-topics/topics/cf/, url:https\\://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis]","descendants":[],"doid":"DOID:1485","name":"cystic fibrosis","parents":["DOID:0050737","DOID:225"],"synonyms":{"exact":["CF","mucoviscidosis"]},"xrefs":{"gard":"6233","icd10":"E84","icd9":"277.0","mesh":"D003550","mim":"219700","ncit":"C2975","ordo":"586","snomedct_us_2025_09_01":"85809002","umls_cui":"C0010674"}},"hpo":[{"clinical_course":[{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":7,"freq_numerator":6,"hpo_id":"HP:0003593","hpo_name":"Infantile onset","numeric_freq":0.8571428571428571,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:10777364"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":7,"freq_numerator":1,"hpo_id":"HP:0011463","hpo_name":"Childhood onset","numeric_freq":0.14285714285714285,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:10777364"}],"disease_name":"Cystic fibrosis","inheritance":{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000007","hpo_name":"Autosomal recessive inheritance","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},"omim":"219700","phenotype_related_to_disease":[{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0004401","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":{"date":"2010-06-20","name":"HPO:skoehler"},"evidence":"IEA","hpo_id":"HP:0006528","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0003251","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":71,"freq_numerator":1,"hpo_id":"HP:0002240","numeric_freq":0.014084507042253521,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:30558651"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":71,"freq_numerator":2,"hpo_id":"HP:0001394","numeric_freq":0.028169014084507043,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:30558651"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":21,"freq_numerator":15,"hpo_id":"HP:0032359","numeric_freq":0.7142857142857143,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2021-02-23","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":21,"freq_numerator":8,"hpo_id":"HP:0001508","numeric_freq":0.38095238095238093,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":21,"freq_numerator":5,"hpo_id":"HP:0032341","numeric_freq":0.23809523809523808,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":39,"freq_numerator":26,"hpo_id":"HP:0032342","numeric_freq":0.6666666666666666,"original_disease_id":"OMIM:219700","pmid_refs":["PMID:26826884","PMID:32539862"]},{"biocuration":{"date":"2009-02-17","name":"HPO:skoehler"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001944","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2021-02-23","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":7,"freq_numerator":1,"hpo_id":"HP:0001648","numeric_freq":0.14285714285714285,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:10777364"},{"biocuration":[{"date":"2010-06-20","name":"HPO:skoehler"},{"date":"2021-02-23","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":21,"freq_numerator":8,"hpo_id":"HP:0006532","numeric_freq":0.38095238095238093,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002613","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":71,"freq_numerator":15,"hpo_id":"HP:0002014","numeric_freq":0.2112676056338028,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:30558651"},{"biocuration":{"date":"2010-06-20","name":"HPO:skoehler"},"evidence":"IEA","hpo_id":"HP:0006538","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":71,"freq_numerator":3,"hpo_id":"HP:0002595","numeric_freq":0.04225352112676056,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:30558651"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002035","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002099","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2021-02-23","name":"HPO:probinson"},{"date":"2021-02-23","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":111,"freq_numerator":106,"hpo_id":"HP:0002110","numeric_freq":0.954954954954955,"original_disease_id":"OMIM:219700","pmid_refs":["PMID:26826884","PMID:32539862","PMID:30558651"]},{"biocuration":{"date":"2024-01-06","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:6000100","original_disease_id":"OMIM:219700","pmid_refs":"PMID:21594779"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":21,"freq_numerator":3,"hpo_id":"HP:0002570","numeric_freq":0.14285714285714285,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002150","omim_refs":"OMIM:219700","original_disease_id":"OMIM:219700"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":21,"freq_numerator":1,"hpo_id":"HP:0100582","numeric_freq":0.047619047619047616,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":112,"freq_numerator":59,"hpo_id":"HP:0011109","numeric_freq":0.5267857142857143,"original_disease_id":"OMIM:219700","pmid_refs":["PMID:26826884","PMID:32539862","PMID:30558651"]},{"biocuration":[{"date":"2021-02-23","name":"HPO:probinson"},{"date":"2013-03-31","name":"HPO:probinson"},{"date":"2021-02-23","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":77,"freq_numerator":77,"hpo_id":"HP:0012236","numeric_freq":1.0,"original_disease_id":"OMIM:219700","pmid_refs":["PMID:10777364","PMID:32539862","PMID:30558651"]},{"biocuration":{"date":"2024-06-29","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":49,"freq_numerator":21,"hpo_id":"HP:6000725","numeric_freq":0.42857142857142855,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:25640976"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2021-02-23","name":"HPO:probinson"},{"date":"2021-02-23","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":27,"freq_numerator":11,"hpo_id":"HP:0001738","numeric_freq":0.4074074074074074,"original_disease_id":"OMIM:219700","pmid_refs":["PMID:10777364","PMID:32539862"]},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":21,"freq_numerator":9,"hpo_id":"HP:0100759","numeric_freq":0.42857142857142855,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":71,"freq_numerator":2,"hpo_id":"HP:0001433","numeric_freq":0.028169014084507043,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:30558651"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":21,"freq_numerator":2,"hpo_id":"HP:0001733","numeric_freq":0.09523809523809523,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"},{"biocuration":{"date":"2021-02-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":21,"freq_numerator":3,"hpo_id":"HP:0002105","numeric_freq":0.14285714285714285,"original_disease_id":"OMIM:219700","pmid_refs":"PMID:26826884"}]},{"disease_name":"Cystic fibrosis","orphanet":"586","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000716","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000739","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000938","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001392","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002020","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002035","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002099","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002570","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002724","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002726","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002783","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002910","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004401","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0005376","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0032342","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0045082","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000365","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000787","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000939","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001394","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002105","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002107","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002842","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0032261","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0100582","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001738","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002024","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002110","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002205","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0006536","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012236","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012873","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001508","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003251","orphanet_refs":"orphanet:586"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000246","orphanet_refs":"orphanet:586"}]}],"mondo":{"ancestors":["MONDO:0000429","MONDO:0700096","MONDO:7770009","MONDO:0000001","MONDO:7770006","MONDO:0003847","MONDO:0005087","MONDO:0006025","MONDO:7770008"],"children":["MONDO:0009062"],"definition":"Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations. [Orphanet:586, PMID:20301428, PMID:27140670, PMID:37278811]","descendants":["MONDO:0009062"],"excluded_subClassOf":{"mondo":["MONDO:0002356"]},"has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/1884"]},"label":"cystic fibrosis","mondo":"MONDO:0009061","parents":["MONDO:0005087","MONDO:0006025"],"synonym":{"exact":["CF","cystic fibrosis","cystic fibrosis lung disease, modifier of","mucoviscidosis","pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis"],"related":["fibrocystic disease of the pancreas"]},"xrefs":{"doid":["DOID:1485"],"gard":["0006233"],"icd10cm":["E84"],"icd10who":["E84"],"icd11":["foundation:514403112"],"icd9":["277.0"],"meddra":["10011762"],"medgen":["41393"],"mesh":["D003550"],"nando":["2200205","1201021","1200922","2100035"],"ncit":["C2975"],"omim":["219700"],"orphanet":["586"],"sctid":["190905008"],"umls":["C0010674"]}},"original_id":"orphanet:586","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"non-preferred":"E84.9","preferred":"E84"},"icd10am":{"non-preferred":"E84.9","preferred":"E84"},"icd10cm":{"non-preferred":["E84","E84.9"],"preferred":"E84"},"icd9cm":{"preferred":"277.0"},"mesh":{"non-preferred":"D003550","preferred":"D003550"},"nci":{"preferred":"C2975"},"snomed":{"non-preferred":["154767009","190905008","190911006","85809002"],"preferred":["190905008","154767009","190911006","85809002"]},"umls":"C0010674"}}