{"_id":"MONDO:0009891","_version":1,"ctd":{"chemical_related_to_disease":[{"chemical_name":"7-(2-aminopyrimidin-5-yl)-1-((1-cyclopropyl-2,2,2-trifluoroethyl)amino)-5H-pyrido(4,3-b)indole-4-carboxamide","direct_evidence":"therapeutic","mesh_chemical_id":"C568962","pubmed":"21942426","source":"CTD"},{"chemical_name":"anagrelide","direct_evidence":"therapeutic","mesh_chemical_id":"C021139","pubmed":["11034048","15531464"],"source":"CTD"},{"cas_registry_number":"50-78-2","chemical_name":"Aspirin","direct_evidence":"therapeutic","mesh_chemical_id":"D001241","pubmed":["16484586","17137402"],"source":"CTD"},{"cas_registry_number":"55-98-1","chemical_name":"Busulfan","direct_evidence":"therapeutic","mesh_chemical_id":"D002066","pubmed":"4691200","source":"CTD"},{"cas_registry_number":"147-94-4","chemical_name":"Cytarabine","direct_evidence":"therapeutic","mesh_chemical_id":"D003561","pubmed":"3978659","source":"CTD"},{"chemical_name":"Dasatinib","direct_evidence":"therapeutic","mesh_chemical_id":"D000069439","pubmed":"18717827","source":"CTD"},{"cas_registry_number":"127-07-1","chemical_name":"Hydroxyurea","direct_evidence":"therapeutic","mesh_chemical_id":"D006918","pubmed":["12459535","19784527","19810313","8638610"],"source":"CTD"},{"cas_registry_number":"54-91-1","chemical_name":"Pipobroman","direct_evidence":"therapeutic","mesh_chemical_id":"D010885","pubmed":["10342591","11736962"],"source":"CTD"},{"cas_registry_number":"66-75-1","chemical_name":"Uracil Mustard","direct_evidence":"therapeutic","mesh_chemical_id":"D014499","pubmed":"3369437","source":"CTD"},{"chemical_name":"WP1066","direct_evidence":"therapeutic","mesh_chemical_id":"C519885","pubmed":"18245540","source":"CTD"}],"mesh":"D011087","pathway_related_to_disease":[{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa01521","pathway_name":"EGFR tyrosine kinase inhibitor resistance","source":"CTD"},{"inference_gene_symbol":"IFNA2","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":["IFNA2","JAK2"],"kegg_pathway_id":"hsa04151","pathway_name":"PI3K-Akt signaling pathway","source":"CTD"},{"inference_gene_symbol":"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","kegg_pathway_id":"hsa04659","pathway_name":"Th17 cell differentiation","source":"CTD"},{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa04725","pathway_name":"Cholinergic synapse","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":"JAK2","kegg_pathway_id":"hsa04933","pathway_name":"AGE-RAGE signaling pathway in diabetic complications","source":"CTD"},{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa05140","pathway_name":"Leishmaniasis","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"kegg_pathway_id":"hsa05143","pathway_name":"African trypanosomiasis","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"kegg_pathway_id":"hsa05144","pathway_name":"Malaria","source":"CTD"},{"inference_gene_symbol":"JAK2","kegg_pathway_id":"hsa05145","pathway_name":"Toxoplasmosis","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2"],"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","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":["IFNA2","JAK2"],"kegg_pathway_id":"hsa05168","pathway_name":"Herpes simplex infection","source":"CTD"},{"inference_gene_symbol":"IFNA2","kegg_pathway_id":"hsa05320","pathway_name":"Autoimmune thyroid disease","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":["HBB","IFNA2","JAK2"],"pathway_name":"Hemostasis","react_pathway_id":"R-HSA-109582","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"MAPK3 (ERK1) activation","react_pathway_id":"R-HSA-110056","source":"CTD"},{"inference_gene_symbol":"JAK2","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":"JAK2","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":"JAK2","pathway_name":"Prolactin receptor signaling","react_pathway_id":"R-HSA-1170546","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"pathway_name":"Erythrocytes take up carbon dioxide and release oxygen","react_pathway_id":"R-HSA-1237044","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"pathway_name":"Erythrocytes take up oxygen and release carbon dioxide","react_pathway_id":"R-HSA-1247673","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Developmental Biology","react_pathway_id":"R-HSA-1266738","source":"CTD"},{"inference_gene_symbol":["IFNA2","JAK2"],"pathway_name":"Cytokine Signaling in Immune system","react_pathway_id":"R-HSA-1280215","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by SCF-KIT","react_pathway_id":"R-HSA-1433557","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"pathway_name":"O2/CO2 exchange in erythrocytes","react_pathway_id":"R-HSA-1480926","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Disease","react_pathway_id":"R-HSA-1643685","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signalling by NGF","react_pathway_id":"R-HSA-166520","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signalling to RAS","react_pathway_id":"R-HSA-167044","source":"CTD"},{"inference_gene_symbol":["HBB","IFNA2","JAK2"],"pathway_name":"Innate Immune System","react_pathway_id":"R-HSA-168249","source":"CTD"},{"inference_gene_symbol":["HBB","IFNA2","JAK2"],"pathway_name":"Immune System","react_pathway_id":"R-HSA-168256","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":"JAK2","pathway_name":"Prolonged ERK activation events","react_pathway_id":"R-HSA-169893","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Frs2-mediated activation","react_pathway_id":"R-HSA-170968","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"ARMS-mediated activation","react_pathway_id":"R-HSA-170984","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by EGFR","react_pathway_id":"R-HSA-177929","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"GRB2 events in EGFR signaling","react_pathway_id":"R-HSA-179812","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"SHC1 events in EGFR signaling","react_pathway_id":"R-HSA-180336","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Downstream signal transduction","react_pathway_id":"R-HSA-186763","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by PDGF","react_pathway_id":"R-HSA-186797","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"NGF signalling via TRKA from the plasma membrane","react_pathway_id":"R-HSA-187037","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signalling to ERKs","react_pathway_id":"R-HSA-187687","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signalling to p38 via RIT and RIN","react_pathway_id":"R-HSA-187706","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by VEGF","react_pathway_id":"R-HSA-194138","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"pathway_name":"Scavenging of heme from plasma","react_pathway_id":"R-HSA-2168880","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"DAP12 interactions","react_pathway_id":"R-HSA-2172127","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"pathway_name":"Binding and Uptake of Ligands by Scavenger Receptors","react_pathway_id":"R-HSA-2173782","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)","react_pathway_id":"R-HSA-2404192","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"DAP12 signaling","react_pathway_id":"R-HSA-2424491","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"IGF1R signaling cascade","react_pathway_id":"R-HSA-2428924","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"IRS-related events triggered by IGF1R","react_pathway_id":"R-HSA-2428928","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Fc epsilon receptor (FCERI) signaling","react_pathway_id":"R-HSA-2454202","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by Leptin","react_pathway_id":"R-HSA-2586552","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"FCERI mediated MAPK activation","react_pathway_id":"R-HSA-2871796","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":"JAK2","pathway_name":"Signaling by GPCR","react_pathway_id":"R-HSA-372790","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"NCAM signaling for neurite out-growth","react_pathway_id":"R-HSA-375165","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":"JAK2","pathway_name":"G-protein beta:gamma signalling","react_pathway_id":"R-HSA-397795","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Axon guidance","react_pathway_id":"R-HSA-422475","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"VEGFA-VEGFR2 Pathway","react_pathway_id":"R-HSA-4420097","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by Interleukins","react_pathway_id":"R-HSA-449147","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Interleukin-2 signaling","react_pathway_id":"R-HSA-451927","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Chromatin organization","react_pathway_id":"R-HSA-4839726","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Interleukin-3, 5 and GM-CSF signaling","react_pathway_id":"R-HSA-512988","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"VEGFR2 mediated cell proliferation","react_pathway_id":"R-HSA-5218921","source":"CTD"},{"inference_gene_symbol":["HBA1","HBB"],"pathway_name":"Vesicle-mediated transport","react_pathway_id":"R-HSA-5653656","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Diseases of signal transduction","react_pathway_id":"R-HSA-5663202","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"RAF activation","react_pathway_id":"R-HSA-5673000","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"RAF/MAP kinase cascade","react_pathway_id":"R-HSA-5673001","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"MAPK family signaling cascades","react_pathway_id":"R-HSA-5683057","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"MAPK1/MAPK3 signaling","react_pathway_id":"R-HSA-5684996","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Interleukin-6 family signaling","react_pathway_id":"R-HSA-6783589","source":"CTD"},{"inference_gene_symbol":"JAK2","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":"HBB","pathway_name":"Neutrophil degranulation","react_pathway_id":"R-HSA-6798695","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":"JAK2","pathway_name":"Insulin receptor signalling cascade","react_pathway_id":"R-HSA-74751","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Signaling by Insulin receptor","react_pathway_id":"R-HSA-74752","source":"CTD"},{"inference_gene_symbol":"JAK2","pathway_name":"Platelet activation, signaling and aggregation","react_pathway_id":"R-HSA-76002","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":"JAK2","pathway_name":"Gastrin-CREB signalling pathway via PKC and MAPK","react_pathway_id":"R-HSA-881907","source":"CTD"},{"inference_gene_symbol":"JAK2","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":"JAK2","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":["HBB","IFNA2","JAK2"],"pathway_name":"Factors involved in megakaryocyte development and platelet production","react_pathway_id":"R-HSA-983231","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 characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.\" [url:https\\://en.wikipedia.org/wiki/Polycythemia_vera, url:https\\://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera, url:https\\://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850]","descendants":[],"doid":"DOID:8997","name":"polycythemia vera","parents":["DOID:2226"],"synonyms":{"exact":["chronic erythremia","Osler-Vaquez syndrome","Polycythaemia rubra vera","Proliferative polycythaemia"]},"xrefs":{"gard":"7422","icd10":"D45","icd9":["207.1","238.4"],"icdo":"9950/3","mesh":"D011087","mim":"263300","ncit":"C3336","snomedct_us_2025_09_01":["154644004","188753004"],"umls_cui":["C0032463","C0152272"]}},"hpo":[{"clinical_course":[{"biocuration":{"date":"2022-08-27","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":31,"freq_numerator":17,"hpo_id":"HP:0003596","hpo_name":"Middle age onset","numeric_freq":0.5483870967741935,"original_disease_id":"OMIM:263300","pmid_refs":"PMID:15793561"},{"biocuration":{"date":"2022-08-27","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":31,"freq_numerator":13,"hpo_id":"HP:0003584","hpo_name":"Late onset","numeric_freq":0.41935483870967744,"original_disease_id":"OMIM:263300","pmid_refs":"PMID:15793561"},{"biocuration":{"date":"2022-08-27","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":31,"freq_numerator":1,"hpo_id":"HP:0025709","hpo_name":"Intermediate young adult onset","numeric_freq":0.03225806451612903,"original_disease_id":"OMIM:263300","pmid_refs":"PMID:15793561"}],"disease_name":"Polycythemia vera","inheritance":[{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2022-08-27","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0001442","hpo_name":"Typified by somatic mosaicism","original_disease_id":"OMIM:263300","pmid_refs":"PMID:15793561"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0003745","hpo_name":"Sporadic","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"}],"omim":"263300","phenotype_related_to_disease":[{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001342","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0005513","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2022-08-27","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":31,"freq_numerator":14,"hpo_id":"HP:0001894","numeric_freq":0.45161290322580644,"original_disease_id":"OMIM:263300","pmid_refs":"PMID:15793561"},{"biocuration":{"date":"2012-10-17","name":"HPO:skoehler"},"evidence":"TAS","hpo_id":"HP:0001907","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001900","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001977","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001899","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002639","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002637","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2022-08-27","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0001873","original_disease_id":"OMIM:263300","pmid_refs":"PMID:15793561"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0002239","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2022-08-27","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":31,"freq_numerator":30,"hpo_id":"HP:0001744","numeric_freq":0.967741935483871,"original_disease_id":"OMIM:263300","pmid_refs":"PMID:15793561"},{"biocuration":[{"date":"2009-02-17","name":"HPO:iea"},{"date":"2022-08-27","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0001898","original_disease_id":"OMIM:263300","pmid_refs":"PMID:15793561"},{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0001974","omim_refs":"OMIM:263300","original_disease_id":"OMIM:263300"}]},{"disease_name":"Polycythemia vera","orphanet":"729","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000225","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000360","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000421","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000822","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000978","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001681","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001744","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001824","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001901","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002027","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002240","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002315","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002321","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002488","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002863","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0011974","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000504","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002093","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002829","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003401","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0012378","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000989","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001297","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001409","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001894","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001974","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002204","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002239","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002639","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004417","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004420","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004936","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030242","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0032147","orphanet_refs":"orphanet:729"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0033842","orphanet_refs":"orphanet:729"}]}],"mondo":{"ancestors":["MONDO:0021581","MONDO:7770009","MONDO:0001115","MONDO:0000001","MONDO:0045024","MONDO:0003225","MONDO:0023603","MONDO:0005570","MONDO:0003900","MONDO:0019060","MONDO:0002334","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:0002081","MONDO:0005381","MONDO:0000637","MONDO:0021138","MONDO:0003847","MONDO:0015756","MONDO:0020703","MONDO:0005571"],"definition":"Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. [Orphanet:729]","has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/6192"]},"label":"acquired polycythemia vera","mondo":"MONDO:0009891","parents":["MONDO:0001115","MONDO:0020703","MONDO:0023603"],"synonym":{"exact":["acquired primary erythrocytosis","Osler-Vaquez disease","polycythaemia rubra vera","polycythemia rubra vera","polycythemia vera","polycythemia vera, somatic","PV","Vaquez disease"],"related":["primary polycythemia","PRV"]},"xrefs":{"doid":["DOID:8997"],"efo":["EFO:0002429"],"gard":["0007422"],"icd10cm":["D45"],"icd11":["foundation:818364947"],"icd9":["238.4"],"icdo":["9950/3"],"meddra":["10036057"],"medgen":["45996"],"mesh":["D011087"],"nando":["2200643","2100186"],"ncit":["C3336"],"omim":["263300"],"oncotree":["PV"],"orphanet":["729"],"umls":["C0032463"]}},"original_id":["orphanet:729","UMLS:C0152272"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"preferred":"D45"},"icd10am":{"preferred":["M9950/1","D45"]},"icd10cm":{"preferred":"D45"},"icd9cm":{"preferred":"238.4"},"mesh":{"non-preferred":"D011087","preferred":"D011087"},"nci":{"non-preferred":"C3336","preferred":"C3336"},"snomed":{"non-preferred":["278190000","109992005","128841001","31569001","134182002","269652000","154644004"],"preferred":["109992005","128841001","31569001","269652000","154644004"]},"umls":"C0032463"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"preferred":"C94.1"},"icd10am":{"preferred":["M9842/3","C94.1"]},"icd9cm":{"preferred":"207.1"},"snomed":{"non-preferred":["269478004","92810002","190042004","188753004","48292007"],"preferred":["188753004","269478004","92810002","48292007"]},"umls":"C0152272"}]}