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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:polycythemia vera
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Accession:DOID:8997 term browser browse the term
Definition:A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs.
Synonyms:exact_synonym: Erythremia;   Osler-Vaquez disease;   Osler-Vaquez syndrome;   PRV;   PV;   Polycythemia Ruba Vera;   Polycythemia Ruba Veras;   chronic erythremia;   erythremias;   polycythaemia rubra vera;   polycythemia rubra vera;   polycythemia rubra veras;   proliferative polycythaemia
 related_synonym: HEMOGLOBIN VILLEJUIF
 primary_id: MESH:D011087
 alt_id: DOID:11868;   OMIM:263300
 xref: GARD:7422;   ICD10CM:D45;   ICD9CM:207.1;   ICD9CM:238.4;   NCI:C3336
For additional species annotation, visit the Alliance of Genome Resources.



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polycythemia vera term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Polycythemia vera ClinVar NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:bone marrow, erythroid cell (human) RGD PMID:9475763 RGD:11353849 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Elane elastase, neutrophil expressed ISO
IMP
protein:increased expression:plasma: RGD PMID:18768782 PMID:12186827 RGD:10450556, RGD:10450557 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Epor erythropoietin receptor ISO mRNA:decreased expression:blood cell: RGD PMID:9207443 RGD:11041603 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:8569275 RGD:11059504 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22018952 RGD:10450875 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1634355 NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF
CTD
ClinVar
PMID:2816924 PMID:5773089 PMID:11300351 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
JBrowse link
G Hfe homeostatic iron regulator susceptibility
no_association
ISO DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)
DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)
RGD PMID:19258483 PMID:19258483 RGD:10755491, RGD:10755491 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Polycythemia vera
ClinVar Annotator: match by term: Polycythemia rubra vera
ClinVar PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Polycythemia vera ClinVar PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 More... NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Polycythemia vera
ClinVar Annotator: match by term: Polycythemia rubra vera
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 More... RGD:1627655 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of cellular proliferation 7088
      Neoplasms by Histologic Type 4800
        leukemia 592
          polycythemia vera 13
            Erythremia, Alpha-Globin Type 0
            Erythremia, Beta-Globin Type 0
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Hemic and Lymphatic Diseases 2394
        hematopoietic system disease 1969
          bone marrow disease 617
            Bone Marrow Neoplasms 469
              bone marrow cancer 469
                myeloid neoplasm 290
                  myeloproliferative neoplasm 42
                    polycythemia vera 13
                      Erythremia, Alpha-Globin Type 0
                      Erythremia, Beta-Globin Type 0
paths to the root