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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 neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly. (DO)
Synonyms:exact_synonym: Osler-Vaquez disease;   Osler-Vaquez syndrome;   PRV;   PV;   chronic erythremia;   erythremia;   erythremias;   polycythaemia rubra vera;   polycythemia ruba vera;   polycythemia ruba veras;   polycythemia rubra vera;   polycythemia rubra veras;   proliferative polycythaemia
 related_synonym: HEMOGLOBIN VILLEJUIF
 primary_id: MESH:D011087
 alt_id: DOID:11868;   OMIM:263300
 xref: EFO:0002429;   GARD:7422;   ICD10CM:D45;   ICD9CM:207.1;   ICD9CM:238.4;   ICDO:9950/3;   NCI:C3336
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 rubra 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 PMID:19429541 PMID:26467025 More... 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 rubra vera ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 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 rubra 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
ISS		 ClinVar Annotator: match by term: Polycythemia rubra vera
OMIM:263300
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 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 18976
    disease of cellular proliferation 7746
      Neoplasms by Histologic Type 5353
        leukemia 625
          polycythemia vera 13
            Erythremia, Alpha-Globin Type 0
            Erythremia, Beta-Globin Type 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Hemic and Lymphatic Diseases 3852
        hematopoietic system disease 3341
          bone marrow disease 778
            Bone Marrow Neoplasms 509
              bone marrow cancer 509
                myeloid neoplasm 326
                  myeloproliferative neoplasm 50
                    polycythemia vera 13
                      Erythremia, Alpha-Globin Type 0
                      Erythremia, Beta-Globin Type 0
paths to the root