Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

POLYCYTHEMIA VERA
Synonyms

PRV

POLYCYTHEMIA RUBRA VERA

PV
ID

http://purl.bioontology.org/ontology/OMIM/263300
altLabel

PRV

POLYCYTHEMIA RUBRA VERA

PV
cui

C0032463
Gene Locus

9p24
Gene Symbol

JAK2

THCYT3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU000458

http://purl.bioontology.org/ontology/OMIM/MTHU000457

http://purl.bioontology.org/ontology/OMIM/MTHU028497

http://purl.bioontology.org/ontology/OMIM/MTHU001287

http://purl.bioontology.org/ontology/OMIM/MTHU005312

http://purl.bioontology.org/ontology/OMIM/MTHU010071

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU028498

http://purl.bioontology.org/ontology/OMIM/MTHU037875

http://purl.bioontology.org/ontology/OMIM/MTHU010069

http://purl.bioontology.org/ontology/OMIM/MTHU010067

http://purl.bioontology.org/ontology/OMIM/MTHU000456

http://purl.bioontology.org/ontology/OMIM/MTHU008388

http://purl.bioontology.org/ontology/OMIM/MTHU037125

http://purl.bioontology.org/ontology/OMIM/MTHU037874

http://purl.bioontology.org/ontology/OMIM/MTHU005041

http://purl.bioontology.org/ontology/OMIM/MTHU000211

http://purl.bioontology.org/ontology/OMIM/MTHU010068

http://purl.bioontology.org/ontology/OMIM/MTHU010066
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

263300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

POLYCYTHEMIA VERA
Scope Statement

Mean age at onset 57-60 years [MISCELLANEOUS]

Children rarely develop the disorder [MISCELLANEOUS]

Familial cases are rare and show incomplete penetrance [MISCELLANEOUS]

Caused by somatic mutation in the janus kinase 2 gene (JAK2, 147796) [MOLECULAR BASIS]

Distinct disorder from familial erythrocytosis (ECYT1, 133100) [MISCELLANEOUS]
tui

T191
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/RCD/Xa0eC RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10036725 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10036056 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10064071 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10036056 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/128841001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10036061 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/109992005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10036060 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/M-99501 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10036060 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D011087 MESH CUI
http://purl.bioontology.org/ontology/ICPC2P/B75004 ICPC2P CUI
http://purl.bioontology.org/ontology/MEDDRA/10036060 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/238.4 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10036057 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002454 NDFRT CUI
http://purl.bioontology.org/ontology/MEDDRA/10036726 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10036061 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/D45 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10036057 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10036061 MEDDRA CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000039350 PDQ CUI
http://purl.bioontology.org/ontology/RCD/B934. RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10064071 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10036725 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/109992005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10036726 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10064071 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10036725 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/128841001 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10036057 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/D45 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/2004-0979 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D011087 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10036726 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10036056 MDRFRE CUI
http://purl.obolibrary.org/obo/DOID_8997 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200643 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037353 PMAPP-PMO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Polycythemia_Vera PEDTERM LOOM
http://www.ebi.ac.uk/efo/EFO_0002429 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0002429 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2100186 NANDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/128841001 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9911 OCHV LOOM
http://purl.bioontology.org/ontology/SNMI/M-99501 SNMI LOOM
http://purl.bioontology.org/ontology/MESH/D011087 MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3336 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.190.636.753 RH-MESH LOOM
http://www.radlex.org/RID/RID3865 RADLEX LOOM
http://purl.bioontology.org/ontology/ICD9CM/238.4 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/238.4 NLMVS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Polycythemia_Vera CSEO LOOM
http://www.orpha.net/ORDO/Orphanet_729 ORDO LOOM
http://purl.obolibrary.org/obo/NCIT_C3336 BERO LOOM
http://purl.jp/bio/4/id/200906065180960067 IOBC LOOM
http://www.owl-ontologies.com/unnamed.owl#RID16944 DERMLEX LOOM
http://www.limics.org/hrdo/rdfns#pat_id_8747 HRDO LOOM
http://identifiers.org/omim/263300 REXO LOOM
http://identifiers.org/omim/263300 GEXO LOOM
http://identifiers.org/omim/263300 RETO LOOM
http://purl.obolibrary.org/obo/DERMO_0000146 DERMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10036061 MEDDRA LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000039350 PDQ LOOM
http://purl.obolibrary.org/obo/DOID_8997 DTO LOOM
http://purl.obolibrary.org/obo/DOID_8997 DOID LOOM
http://purl.obolibrary.org/obo/DOID_8997 BAO LOOM
http://purl.obolibrary.org/obo/DOID_8997 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_8997 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_8997 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_8997 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_8997 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D011087 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0032463 OCHV LOOM
http://localhost/plosthes.2017-1#10521 PLOSTHES LOOM
http://purl.obolibrary.org/obo/OMIT_0012055 OMIT LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_8997 NATPRO LOOM
http://id.nlm.nih.gov/mesh/D011087 MDM LOOM
http://purl.bioontology.org/ontology/ICD10CM/D45 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/D45 ICD10CM LOOM
http://purl.bioontology.org/ontology/CSP/2004-0979 CRISP LOOM
rgo:01866 GAMUTS LOOM
http://purl.obolibrary.org/obo/OMIM_263300 CCO LOOM