{"_id":"MONDO:0005029","_version":1,"ctd":{"chemical_related_to_disease":[{"chemical_name":"anagrelide","direct_evidence":"therapeutic","mesh_chemical_id":"C021139","pubmed":["12924084","15531464","16398570","17137402"],"source":"CTD"},{"cas_registry_number":"50-78-2","chemical_name":"Aspirin","direct_evidence":"therapeutic","mesh_chemical_id":"D001241","pubmed":["11856718","16510297","17137402","18160579"],"source":"CTD"},{"cas_registry_number":"55-98-1","chemical_name":"Busulfan","direct_evidence":"therapeutic","mesh_chemical_id":"D002066","pubmed":"9051142","source":"CTD"},{"chemical_name":"Clopidogrel","direct_evidence":"therapeutic","mesh_chemical_id":"D000077144","pubmed":"18160579","source":"CTD"},{"cas_registry_number":"127-07-1","chemical_name":"Hydroxyurea","direct_evidence":"therapeutic","mesh_chemical_id":"D006918","pubmed":["11099330","11736962","12924084","15558807","16440777","16682291","17137402","8638610","8678547"],"source":"CTD"},{"chemical_name":"Imatinib Mesylate","direct_evidence":"therapeutic","mesh_chemical_id":"D000068877","pubmed":"16682291","source":"CTD"},{"chemical_name":"Interferon-alpha","direct_evidence":"therapeutic","mesh_chemical_id":"D016898","pubmed":"11856718","source":"CTD"},{"cas_registry_number":"148-82-3","chemical_name":"Melphalan","direct_evidence":"therapeutic","mesh_chemical_id":"D008558","pubmed":"11099330","source":"CTD"},{"cas_registry_number":"54-91-1","chemical_name":"Pipobroman","direct_evidence":"therapeutic","mesh_chemical_id":"D010885","pubmed":"11736962","source":"CTD"},{"cas_registry_number":"52-24-4","chemical_name":"Thiotepa","direct_evidence":"therapeutic","mesh_chemical_id":"D013852","pubmed":"7817232","source":"CTD"},{"cas_registry_number":"66-75-1","chemical_name":"Uracil Mustard","direct_evidence":"therapeutic","mesh_chemical_id":"D014499","pubmed":"3369437","source":"CTD"}],"mesh":"D013920","pathway_related_to_disease":[{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"kegg_pathway_id":"hsa01521","pathway_name":"EGFR tyrosine kinase inhibitor resistance","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB","TGFB1"],"kegg_pathway_id":"hsa04010","pathway_name":"MAPK signaling pathway","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"kegg_pathway_id":"hsa04014","pathway_name":"Ras signaling pathway","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"kegg_pathway_id":"hsa04015","pathway_name":"Rap1 signaling pathway","source":"CTD"},{"inference_gene_symbol":["IFNA2","PDGFA","PDGFB","TGFB1"],"kegg_pathway_id":"hsa04060","pathway_name":"Cytokine-cytokine receptor interaction","source":"CTD"},{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa04062","pathway_name":"Chemokine signaling pathway","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04068","pathway_name":"FoxO signaling pathway","source":"CTD"},{"inference_gene_symbol":["PDGFA","PDGFB"],"kegg_pathway_id":"hsa04072","pathway_name":"Phospholipase D 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":["FGF2","IFNA2","JAK2","PDGFA","PDGFB"],"kegg_pathway_id":"hsa04151","pathway_name":"PI3K-Akt signaling pathway","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04350","pathway_name":"TGF-beta signaling pathway","source":"CTD"},{"inference_gene_symbol":"TGFB1","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":["PDGFA","PDGFB"],"kegg_pathway_id":"hsa04510","pathway_name":"Focal adhesion","source":"CTD"},{"inference_gene_symbol":["PDGFA","PDGFB"],"kegg_pathway_id":"hsa04540","pathway_name":"Gap junction","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2"],"kegg_pathway_id":"hsa04550","pathway_name":"Signaling pathways regulating pluripotency of stem cells","source":"CTD"},{"inference_gene_symbol":"IFNA2","kegg_pathway_id":"hsa04620","pathway_name":"Toll-like receptor signaling pathway","source":"CTD"},{"inference_gene_symbol":"IFNA2","kegg_pathway_id":"hsa04621","pathway_name":"NOD-like receptor signaling pathway","source":"CTD"},{"inference_gene_symbol":"IFNA2","kegg_pathway_id":"hsa04622","pathway_name":"RIG-I-like receptor signaling pathway","source":"CTD"},{"inference_gene_symbol":"IFNA2","kegg_pathway_id":"hsa04623","pathway_name":"Cytosolic DNA-sensing pathway","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2"],"kegg_pathway_id":"hsa04630","pathway_name":"Jak-STAT signaling pathway","source":"CTD"},{"inference_gene_symbol":"IFNA2","kegg_pathway_id":"hsa04650","pathway_name":"Natural killer cell mediated cytotoxicity","source":"CTD"},{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa04658","pathway_name":"Th1 and Th2 cell differentiation","source":"CTD"},{"inference_gene_symbol":["JAK2","TGFB1"],"kegg_pathway_id":"hsa04659","pathway_name":"Th17 cell differentiation","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04672","pathway_name":"Intestinal immune network for IgA production","source":"CTD"},{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa04725","pathway_name":"Cholinergic synapse","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"kegg_pathway_id":"hsa04810","pathway_name":"Regulation of actin cytoskeleton","source":"CTD"},{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa04917","pathway_name":"Prolactin signaling pathway","source":"CTD"},{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa04920","pathway_name":"Adipocytokine signaling pathway","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa04932","pathway_name":"Non-alcoholic fatty liver disease (NAFLD)","source":"CTD"},{"inference_gene_symbol":["JAK2","TGFB1"],"kegg_pathway_id":"hsa04933","pathway_name":"AGE-RAGE signaling pathway in diabetic complications","source":"CTD"},{"inference_gene_symbol":["JAK2","TGFB1"],"kegg_pathway_id":"hsa05140","pathway_name":"Leishmaniasis","source":"CTD"},{"inference_gene_symbol":"TGFB1","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":["JAK2","TGFB1"],"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":["IFNA2","JAK2","TGFB1"],"kegg_pathway_id":"hsa05152","pathway_name":"Tuberculosis","source":"CTD"},{"inference_gene_symbol":"IFNA2","kegg_pathway_id":"hsa05160","pathway_name":"Hepatitis C","source":"CTD"},{"inference_gene_symbol":["IFNA2","TGFB1"],"kegg_pathway_id":"hsa05161","pathway_name":"Hepatitis B","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2"],"kegg_pathway_id":"hsa05162","pathway_name":"Measles","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2"],"kegg_pathway_id":"hsa05164","pathway_name":"Influenza A","source":"CTD"},{"inference_gene_symbol":["PDGFA","PDGFB","TGFB1"],"kegg_pathway_id":"hsa05166","pathway_name":"HTLV-I infection","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2"],"kegg_pathway_id":"hsa05168","pathway_name":"Herpes simplex infection","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB","TGFB1"],"kegg_pathway_id":"hsa05200","pathway_name":"Pathways in cancer","source":"CTD"},{"inference_gene_symbol":"PDGFA","kegg_pathway_id":"hsa05202","pathway_name":"Transcriptional misregulation in cancer","source":"CTD"},{"inference_gene_symbol":["FGF2","TGFB1"],"kegg_pathway_id":"hsa05205","pathway_name":"Proteoglycans in cancer","source":"CTD"},{"inference_gene_symbol":["PDGFA","PDGFB"],"kegg_pathway_id":"hsa05206","pathway_name":"MicroRNAs in cancer","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05210","pathway_name":"Colorectal cancer","source":"CTD"},{"inference_gene_symbol":["PDGFB","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":["PDGFA","PDGFB"],"kegg_pathway_id":"hsa05214","pathway_name":"Glioma","source":"CTD"},{"inference_gene_symbol":["PDGFA","PDGFB"],"kegg_pathway_id":"hsa05215","pathway_name":"Prostate cancer","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"kegg_pathway_id":"hsa05218","pathway_name":"Melanoma","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05220","pathway_name":"Chronic myeloid leukemia","source":"CTD"},{"inference_gene_symbol":"FGF2","kegg_pathway_id":"hsa05224","pathway_name":"Breast cancer","source":"CTD"},{"inference_gene_symbol":["PDGFA","PDGFB"],"kegg_pathway_id":"hsa05231","pathway_name":"Choline metabolism in cancer","source":"CTD"},{"inference_gene_symbol":"IFNA2","kegg_pathway_id":"hsa05320","pathway_name":"Autoimmune thyroid disease","source":"CTD"},{"inference_gene_symbol":"TGFB1","kegg_pathway_id":"hsa05321","pathway_name":"Inflammatory bowel disease (IBD)","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":["PDGFA","PDGFB"],"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":"JAK2","kegg_pathway_id":"hsa_M00684","pathway_name":"JAK-STAT signaling","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Interleukin-6 signaling","react_pathway_id":"R-HSA-1059683","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2","PDGFA","PDGFB","TGFB1"],"pathway_name":"Hemostasis","react_pathway_id":"R-HSA-109582","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"PI3K Cascade","react_pathway_id":"R-HSA-109704","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"MAPK3 (ERK1) activation","react_pathway_id":"R-HSA-110056","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"IRS-mediated signalling","react_pathway_id":"R-HSA-112399","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"RAF-independent MAPK1/3 activation","react_pathway_id":"R-HSA-112409","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"MAPK1 (ERK2) activation","react_pathway_id":"R-HSA-112411","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"SOS-mediated signalling","react_pathway_id":"R-HSA-112412","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"GPVI-mediated activation cascade","react_pathway_id":"R-HSA-114604","source":"CTD"},{"inference_gene_symbol":["PDGFA","PDGFB","TGFB1"],"pathway_name":"Platelet degranulation","react_pathway_id":"R-HSA-114608","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"Downstream signaling events of B Cell Receptor (BCR)","react_pathway_id":"R-HSA-1168372","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Prolactin receptor signaling","react_pathway_id":"R-HSA-1170546","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR in disease","react_pathway_id":"R-HSA-1226099","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"PIP3 activates AKT signaling","react_pathway_id":"R-HSA-1257604","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB","TGFB1"],"pathway_name":"Developmental Biology","react_pathway_id":"R-HSA-1266738","source":"CTD"},{"inference_gene_symbol":["FGF2","IFNA2","JAK2","PDGFA","PDGFB","TGFB1"],"pathway_name":"Cytokine Signaling in Immune system","react_pathway_id":"R-HSA-1280215","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"Adaptive Immune System","react_pathway_id":"R-HSA-1280218","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signaling by SCF-KIT","react_pathway_id":"R-HSA-1433557","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB","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":["FGF2","JAK2","PDGFA","PDGFB","TGFB1"],"pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB","TGFB1"],"pathway_name":"Disease","react_pathway_id":"R-HSA-1643685","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signalling by NGF","react_pathway_id":"R-HSA-166520","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signalling to RAS","react_pathway_id":"R-HSA-167044","source":"CTD"},{"inference_gene_symbol":["FGF2","IFNA2","JAK2","PDGFA","PDGFB"],"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":["FGF2","IFNA2","JAK2","PDGFA","PDGFB","TGFB1"],"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":"IFNA2","pathway_name":"RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways","react_pathway_id":"R-HSA-168928","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Prolonged ERK activation events","react_pathway_id":"R-HSA-169893","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":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Frs2-mediated activation","react_pathway_id":"R-HSA-170968","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"ARMS-mediated activation","react_pathway_id":"R-HSA-170984","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signaling by EGFR","react_pathway_id":"R-HSA-177929","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"GRB2 events in EGFR signaling","react_pathway_id":"R-HSA-179812","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"GAB1 signalosome","react_pathway_id":"R-HSA-180292","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"SHC1 events in EGFR signaling","react_pathway_id":"R-HSA-180336","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by activated point mutants of FGFR1","react_pathway_id":"R-HSA-1839122","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR1 mutant receptor activation","react_pathway_id":"R-HSA-1839124","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR2 mutant receptor activation","react_pathway_id":"R-HSA-1839126","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by activated point mutants of FGFR3","react_pathway_id":"R-HSA-1839130","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Downstream signal transduction","react_pathway_id":"R-HSA-186763","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signaling by PDGF","react_pathway_id":"R-HSA-186797","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"NGF signalling via TRKA from the plasma membrane","react_pathway_id":"R-HSA-187037","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signalling to ERKs","react_pathway_id":"R-HSA-187687","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signalling to p38 via RIT and RIN","react_pathway_id":"R-HSA-187706","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR","react_pathway_id":"R-HSA-190236","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR3 ligand binding and activation","react_pathway_id":"R-HSA-190239","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR2 ligand binding and activation","react_pathway_id":"R-HSA-190241","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR1 ligand binding and activation","react_pathway_id":"R-HSA-190242","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR4 ligand binding and activation","react_pathway_id":"R-HSA-190322","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR1b ligand binding and activation","react_pathway_id":"R-HSA-190370","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR3c ligand binding and activation","react_pathway_id":"R-HSA-190372","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR1c ligand binding and activation","react_pathway_id":"R-HSA-190373","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR2c ligand binding and activation","react_pathway_id":"R-HSA-190375","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFR2b ligand binding and activation","react_pathway_id":"R-HSA-190377","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signaling by VEGF","react_pathway_id":"R-HSA-194138","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"PI3K/AKT activation","react_pathway_id":"R-HSA-198203","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"Negative regulation of the PI3K/AKT network","react_pathway_id":"R-HSA-199418","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":"FGF2","pathway_name":"FGFR3 mutant receptor activation","react_pathway_id":"R-HSA-2033514","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Activated point mutants of FGFR2","react_pathway_id":"R-HSA-2033519","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Molecules associated with elastic fibres","react_pathway_id":"R-HSA-2129379","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"DAP12 interactions","react_pathway_id":"R-HSA-2172127","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":["FGF2","PDGFA","PDGFB"],"pathway_name":"PI3K/AKT Signaling in Cancer","react_pathway_id":"R-HSA-2219528","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"Constitutive Signaling by Aberrant PI3K in Cancer","react_pathway_id":"R-HSA-2219530","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)","react_pathway_id":"R-HSA-2404192","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"DAP12 signaling","react_pathway_id":"R-HSA-2424491","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"IGF1R signaling cascade","react_pathway_id":"R-HSA-2428924","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"IRS-related events triggered by IGF1R","react_pathway_id":"R-HSA-2428928","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Fc epsilon receptor (FCERI) signaling","react_pathway_id":"R-HSA-2454202","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signaling by Leptin","react_pathway_id":"R-HSA-2586552","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"Role of LAT2/NTAL/LAB on calcium mobilization","react_pathway_id":"R-HSA-2730905","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"FCERI mediated MAPK activation","react_pathway_id":"R-HSA-2871796","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation","react_pathway_id":"R-HSA-2892247","source":"CTD"},{"inference_gene_symbol":["FGF2","TGFB1"],"pathway_name":"Syndecan interactions","react_pathway_id":"R-HSA-3000170","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB","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":"JAK2","pathway_name":"RMTs methylate histone arginines","react_pathway_id":"R-HSA-3214858","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Chromatin modifying enzymes","react_pathway_id":"R-HSA-3247509","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":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signaling by GPCR","react_pathway_id":"R-HSA-372790","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"NCAM signaling for neurite out-growth","react_pathway_id":"R-HSA-375165","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":"JAK2","pathway_name":"GPCR downstream signaling","react_pathway_id":"R-HSA-388396","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"G beta:gamma signalling through PI3Kgamma","react_pathway_id":"R-HSA-392451","source":"CTD"},{"inference_gene_symbol":"TGFB1","pathway_name":"Metabolism of proteins","react_pathway_id":"R-HSA-392499","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"G-protein beta:gamma signalling","react_pathway_id":"R-HSA-397795","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Axon guidance","react_pathway_id":"R-HSA-422475","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"VEGFA-VEGFR2 Pathway","react_pathway_id":"R-HSA-4420097","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB","TGFB1"],"pathway_name":"Signaling by Interleukins","react_pathway_id":"R-HSA-449147","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Interleukin-2 signaling","react_pathway_id":"R-HSA-451927","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Transcriptional regulation of pluripotent stem cells","react_pathway_id":"R-HSA-452723","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Chromatin organization","react_pathway_id":"R-HSA-4839726","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Interleukin-3, 5 and GM-CSF signaling","react_pathway_id":"R-HSA-512988","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"VEGFR2 mediated cell proliferation","react_pathway_id":"R-HSA-5218921","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Phospholipase C-mediated cascade: FGFR1","react_pathway_id":"R-HSA-5654219","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Phospholipase C-mediated cascade; FGFR2","react_pathway_id":"R-HSA-5654221","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Phospholipase C-mediated cascade; FGFR3","react_pathway_id":"R-HSA-5654227","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Phospholipase C-mediated cascade; FGFR4","react_pathway_id":"R-HSA-5654228","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Downstream signaling of activated FGFR1","react_pathway_id":"R-HSA-5654687","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"SHC-mediated cascade:FGFR1","react_pathway_id":"R-HSA-5654688","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"PI-3K cascade:FGFR1","react_pathway_id":"R-HSA-5654689","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FRS-mediated FGFR1 signaling","react_pathway_id":"R-HSA-5654693","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"PI-3K cascade:FGFR2","react_pathway_id":"R-HSA-5654695","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Downstream signaling of activated FGFR2","react_pathway_id":"R-HSA-5654696","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"SHC-mediated cascade:FGFR2","react_pathway_id":"R-HSA-5654699","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FRS-mediated FGFR2 signaling","react_pathway_id":"R-HSA-5654700","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"SHC-mediated cascade:FGFR3","react_pathway_id":"R-HSA-5654704","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FRS-mediated FGFR3 signaling","react_pathway_id":"R-HSA-5654706","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Downstream signaling of activated FGFR3","react_pathway_id":"R-HSA-5654708","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"PI-3K cascade:FGFR3","react_pathway_id":"R-HSA-5654710","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FRS-mediated FGFR4 signaling","react_pathway_id":"R-HSA-5654712","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Downstream signaling of activated FGFR4","react_pathway_id":"R-HSA-5654716","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"SHC-mediated cascade:FGFR4","react_pathway_id":"R-HSA-5654719","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"PI-3K cascade:FGFR4","react_pathway_id":"R-HSA-5654720","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Negative regulation of FGFR1 signaling","react_pathway_id":"R-HSA-5654726","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Negative regulation of FGFR2 signaling","react_pathway_id":"R-HSA-5654727","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Negative regulation of FGFR3 signaling","react_pathway_id":"R-HSA-5654732","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Negative regulation of FGFR4 signaling","react_pathway_id":"R-HSA-5654733","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR1","react_pathway_id":"R-HSA-5654736","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR2","react_pathway_id":"R-HSA-5654738","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR3","react_pathway_id":"R-HSA-5654741","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR4","react_pathway_id":"R-HSA-5654743","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR2 in disease","react_pathway_id":"R-HSA-5655253","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR1 in disease","react_pathway_id":"R-HSA-5655302","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR3 in disease","react_pathway_id":"R-HSA-5655332","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"FGFRL1 modulation of FGFR1 signaling","react_pathway_id":"R-HSA-5658623","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB","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":"JAK2","pathway_name":"RAF activation","react_pathway_id":"R-HSA-5673000","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"RAF/MAP kinase cascade","react_pathway_id":"R-HSA-5673001","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"MAPK family signaling cascades","react_pathway_id":"R-HSA-5683057","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"MAPK1/MAPK3 signaling","react_pathway_id":"R-HSA-5684996","source":"CTD"},{"inference_gene_symbol":"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":"TGFB1","pathway_name":"Post-translational protein modification","react_pathway_id":"R-HSA-597592","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Interleukin-6 family signaling","react_pathway_id":"R-HSA-6783589","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","TGFB1"],"pathway_name":"Interleukin-4 and 13 signaling","react_pathway_id":"R-HSA-6785807","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"IL-6-type cytokine receptor ligand interactions","react_pathway_id":"R-HSA-6788467","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by moderate kinase activity BRAF mutants","react_pathway_id":"R-HSA-6802946","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by RAS mutants","react_pathway_id":"R-HSA-6802949","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by BRAF and RAF fusions","react_pathway_id":"R-HSA-6802952","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Paradoxical activation of RAF signaling by kinase inactive BRAF","react_pathway_id":"R-HSA-6802955","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Oncogenic MAPK signaling","react_pathway_id":"R-HSA-6802957","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling","react_pathway_id":"R-HSA-6811558","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Insulin receptor signalling cascade","react_pathway_id":"R-HSA-74751","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Signaling by Insulin receptor","react_pathway_id":"R-HSA-74752","source":"CTD"},{"inference_gene_symbol":["JAK2","PDGFA","PDGFB","TGFB1"],"pathway_name":"Platelet activation, signaling and aggregation","react_pathway_id":"R-HSA-76002","source":"CTD"},{"inference_gene_symbol":["PDGFA","PDGFB","TGFB1"],"pathway_name":"Response to elevated platelet cytosolic Ca2+","react_pathway_id":"R-HSA-76005","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Interferon gamma signaling","react_pathway_id":"R-HSA-877300","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Regulation of IFNG signaling","react_pathway_id":"R-HSA-877312","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Gastrin-CREB signalling pathway via PKC and MAPK","react_pathway_id":"R-HSA-881907","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR2 IIIa TM","react_pathway_id":"R-HSA-8851708","source":"CTD"},{"inference_gene_symbol":"FGF2","pathway_name":"Signaling by FGFR3 point mutants in cancer","react_pathway_id":"R-HSA-8853338","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"RET signaling","react_pathway_id":"R-HSA-8853659","source":"CTD"},{"inference_gene_symbol":"IFNA2","pathway_name":"Interferon alpha/beta signaling","react_pathway_id":"R-HSA-909733","source":"CTD"},{"inference_gene_symbol":["FGF2","JAK2","PDGFA","PDGFB"],"pathway_name":"Interleukin receptor SHC signaling","react_pathway_id":"R-HSA-912526","source":"CTD"},{"inference_gene_symbol":"IFNA2","pathway_name":"Regulation of IFNA signaling","react_pathway_id":"R-HSA-912694","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2"],"pathway_name":"Interferon Signaling","react_pathway_id":"R-HSA-913531","source":"CTD"},{"inference_gene_symbol":"IFNA2","pathway_name":"TRAF6 mediated IRF7 activation","react_pathway_id":"R-HSA-933541","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Growth hormone receptor signaling","react_pathway_id":"R-HSA-982772","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2"],"pathway_name":"Factors involved in megakaryocyte development and platelet production","react_pathway_id":"R-HSA-983231","source":"CTD"},{"inference_gene_symbol":["FGF2","PDGFA","PDGFB"],"pathway_name":"Signaling by the B Cell Receptor (BCR)","react_pathway_id":"R-HSA-983705","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:2226","DOID:0070004","DOID:7","DOID:4","DOID:162","DOID:0050686","DOID:2531","DOID:74","DOID:4961","DOID:14566","DOID:4960"],"children":[],"def":"\"A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets.\" [url:http\\://www.webmd.com/a-to-z-guides/thrombocythemia-essential]","descendants":[],"doid":"DOID:2224","name":"essential thrombocythemia","parents":["DOID:2226"],"synonyms":{"exact":["Essential thrombocythaemia","familial thrombocytosis","hemorrhagic thrombocythemia","hereditary thrombocythemia","primary Thrombocytosis"]},"xrefs":{"gard":"6594","icd10":"D47.3","icd9":"238.71","icdo":"9962/3","mesh":"D013920","mim":["187950","601977","614521"],"ncit":"C3407","ordo":["3318","71493"],"snomedct_us_2025_09_01":"234499005","umls_cui":"C0040028"}},"hpo":{"disease_name":"Essential thrombocythemia","orphanet":"3318","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001892","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002076","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001658","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001872","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001894","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003010","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003401","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004420","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004936","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0005513","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0005561","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0011875","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012378","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0031388","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100576","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100659","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100749","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001744","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002315","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002321","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100785","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000505","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000978","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001974","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002326","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002488","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002863","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011974","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030243","orphanet_refs":"orphanet:3318"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0032147","orphanet_refs":"orphanet:3318"}]},"mondo":{"ancestors":["MONDO:0021581","MONDO:0000001","MONDO:0045024","MONDO:0003225","MONDO:0005570","MONDO:0003900","MONDO:0019060","MONDO:0002334","MONDO:0002249","MONDO:0004992","MONDO:0044881","MONDO:7770008","MONDO:0005170","MONDO:0005172","MONDO:0005070","MONDO:0002129","MONDO:0000621","MONDO:7770006","MONDO:0005046","MONDO:0023370","MONDO:0020076","MONDO:0005374","MONDO:0700096","MONDO:0002245","MONDO:0002081","MONDO:0005381","MONDO:0000637","MONDO:0021138","MONDO:0015756"],"definition":"A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) [https://github.com/monarch-initiative/mondo/issues/230, NCIT:C3407]","label":"essential thrombocythemia","mondo":"MONDO:0005029","parents":["MONDO:0002249","MONDO:0020076"],"synonym":{"exact":["essential thrombocytemia","essential thrombocythemia","essential thrombocytosis","primary thrombocythemia","primary thrombocytosis"]},"xrefs":{"doid":["DOID:2224"],"efo":["EFO:0000479"],"gard":["0006594"],"icd10cm":["D47.3"],"icd9":["238.71"],"icdo":["9962/3"],"meddra":["10015493"],"medgen":["11797"],"mesh":["D013920"],"nando":["2100194","2200655"],"ncit":["C3407"],"nord":["1110"],"oncotree":["ET"],"orphanet":["3318"],"sctid":["109994006"],"umls":["C0040028"]}},"original_id":"orphanet:3318","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"non-preferred":["D47.3","D75.2"]},"icd10am":{"non-preferred":["M9962/1","D47.3","D75.2"]},"icd10cm":{"non-preferred":"D47.3"},"icd9cm":{"non-preferred":"238.71","preferred":"238.71"},"mesh":{"non-preferred":"D013920","preferred":"D013920"},"nci":{"non-preferred":"C3407","preferred":"C3407"},"snomed":{"non-preferred":["109994006","65471002","191333009","189513005","307652003","189508006","189514004","128844009","234499005"],"preferred":["109994006","65471002","189513005","128844009","234499005"]},"umls":"C0040028"}}