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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:primary polycythemia
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Accession:DOID:10780 term browser browse the term
Definition:A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. (DO)
Synonyms:exact_synonym: familial erythrocytosis;   familiar polycythemia;   primary polycythemias
 related_synonym: HEMOGLOBIN JOHNSTOWN;   HEMOGLOBIN NEW MEXICO
 primary_id: RDO:9002589
 xref: ICD9CM:289.6;   MIM:PS133100;   NCI:C26955
For additional species annotation, visit the Alliance of Genome Resources.

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primary polycythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO ClinVar Annotator: match by term: Familial erythrocytosis ClinVar NCBI chr25:68,624,754...68,685,961
Ensembl chr25:68,625,260...68,682,804 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Familial erythrocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Familial erythrocytosis ClinVar PMID:25741868 NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066 		JBrowse link
familial erythrocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPOR erythropoietin receptor no_association ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign OMIM
ClinVar
RGD		 PMID:1653276 PMID:1954391 PMID:4052634 PMID:7795221 PMID:8093406 More... RGD:11041608 NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066 		JBrowse link
G INSL6 insulin like 6 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G SH2B3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign OMIM
ClinVar		 PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 More... NCBI chr11:106,657,601...106,703,940
Ensembl chr11:106,670,685...106,700,619 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Congenital Erythrocytosis ClinVar PMID:15642664 PMID:25741868 PMID:28492532 PMID:29891534 PMID:37246471 NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
familial erythrocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:9663592 PMID:17102083 PMID:17661816 PMID:19336503 PMID:24555745 More... NCBI chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260 		JBrowse link
G JAK2 Janus kinase 2 ISO RGD PMID:21685897 RGD:6483049 NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 | ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
familial erythrocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGLN1 egl-9 family hypoxia inducible factor 1 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 3 OMIM
ClinVar		 PMID:9536098 PMID:16407130 PMID:17576681 PMID:17579185 PMID:17933562 More... NCBI chr25:68,624,754...68,685,961
Ensembl chr25:68,625,260...68,682,804 		JBrowse link
familial erythrocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPAS1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 4 OMIM
ClinVar		 PMID:18184961 PMID:18378852 PMID:18508787 PMID:18650473 PMID:19208626 More... NCBI chr14:60,823,110...60,912,804
Ensembl chr14:60,822,815...60,912,785 		JBrowse link
familial erythrocytosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPO erythropoietin ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 5 OMIM
ClinVar		 PMID:27651169 PMID:29514032 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		JBrowse link
familial erythrocytosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPGM bisphosphoglycerate mutase ISO ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte | ClinVar Annotator: match by term: Hemolytic anemia due to diphosphoglycerate mutase deficiency OMIM
ClinVar		 PMID:152321 PMID:1421379 PMID:2542247 PMID:15054810 PMID:25015942 More... NCBI chr21:103,336,777...103,369,396
Ensembl chr21:103,336,809...103,372,186 		JBrowse link
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 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G BCL2L1 BCL2 like 1 ISO protein:increased expression:bone marrow, erythroid cell (human) RGD PMID:9475763 RGD:11353849 NCBI chr 2:36,059,024...36,118,332
Ensembl chr 2:36,058,919...36,116,470 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr21:68,214,875...68,309,336
Ensembl chr21:68,216,201...68,268,669 		JBrowse link
G ELANE elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:12186827 PMID:18768782 RGD:10450556 RGD:10450557 NCBI chr 6:599,392...604,925
Ensembl chr 6:601,217...604,725 		JBrowse link
G EPOR erythropoietin receptor ISO mRNA:decreased expression:blood cell: RGD PMID:9207443 RGD:11041603 NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:8569275 RGD:11059504 NCBI chr 8:28,778,713...28,851,907 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 RGD:10755491 NCBI chr17:46,159,770...46,168,831
Ensembl chr17:46,156,685...46,164,649 		JBrowse link
G IFNA2 interferon alpha 2 ISO CTD Direct Evidence: therapeutic CTD PMID:20160369 NCBI chr12:58,468,018...58,469,825 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 chr12:74,345,243...74,372,778
Ensembl chr12:74,346,706...74,372,729 		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 chr20:68,122,134...68,253,361
Ensembl chr20:68,122,173...68,252,042 		JBrowse link
G JAK2 Janus kinase 2 ISO ClinVar Annotator: match by term: Polycythemia rubra vera OMIM
ClinVar		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr12:74,421,243...74,566,766
Ensembl chr12:74,421,016...74,566,710 		JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility ISO RGD PMID:22018952 RGD:10450875 NCBI chr20:23,854,969...23,861,634 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      hematopoietic system disease 3627
        polycythemia 25
          primary polycythemia 22
            familial erythrocytosis 1 5
            familial erythrocytosis 2 6
            familial erythrocytosis 3 1
            familial erythrocytosis 4 1
            familial erythrocytosis 5 1
            familial erythrocytosis 6 0
            familial erythrocytosis 7 0
            familial erythrocytosis 8 1
            polycythemia vera + 12
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      Hemic and Lymphatic Diseases 4104
        hematopoietic system disease 3627
          bone marrow disease 783
            polycythemia 25
              primary polycythemia 22
                familial erythrocytosis 1 5
                familial erythrocytosis 2 6
                familial erythrocytosis 3 1
                familial erythrocytosis 4 1
                familial erythrocytosis 5 1
                familial erythrocytosis 6 0
                familial erythrocytosis 7 0
                familial erythrocytosis 8 1
                polycythemia vera + 12
paths to the root