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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
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Accession:DOID:8432 term browser browse the term
Definition:A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. (DO)
Synonyms:exact_synonym: Erythrocytosis;   erythrocythemia;   erythrocytoses;   polycythemias
 narrow_synonym: ERYTHROCYTOSIS, SOMATIC
 related_synonym: HEMOGLOBIN G (Pest);   HEMOGLOBIN INKSTER;   HEMOGLOBIN J (Buda);   HEMOGLOBIN PUTTELANGE;   HEMOGLOBIN SAN DIEGO;   HEMOGLOBIN SHERWOOD FOREST;   HEMOGLOBIN SOUTH MILWAUKEE;   hemoglobin TAK
 primary_id: MESH:D011086
 alt_id: OMIA:000809
 xref: EFO:0005804;   NCI:C26863
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
polycythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:18339134 RGD:11038827 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human)
DNA:missense mutation: :p.P317R (950C>G) (human)
DNA:missense mutations, nonsense mutation: :multiple
DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human)		 RGD PMID:24121508 PMID:23859443 PMID:16407130 PMID:21933857 PMID:21828119 RGD:11251767, RGD:11073369, RGD:11251771, RGD:11251769, RGD:11251768 NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777 		JBrowse link
G Epas1 endothelial PAS domain protein 1 susceptibility ISO DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human)
DNA:missense mutation:cds: 2097G>A,p.G537R(human) 		RGD PMID:25792003 PMID:18650473 RGD:11041568, RGD:11041573 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Epor erythropoietin receptor ISO
IEP		 ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC
mRNA,protein:increased expression:CD71 positive bone marrow cell
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1653276 PMID:1954391 PMID:4052634 PMID:7795221 PMID:8093406 More... RGD:734937, RGD:149735329, RGD:11041647 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Gata1 GATA binding protein 1 IEP mRNA,protein:increased expression:CD71 positive bone marrow cell RGD PMID:27587253 RGD:149735329 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15161484 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN G (PEST)		 CTD
ClinVar		 PMID:893135 PMID:1634355 PMID:2227935 PMID:4550395 PMID:6814490 More... NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: HEMOGLOBIN INKSTER | ClinVar Annotator: match by term: HEMOGLOBIN J (BUDA) ClinVar PMID:2227935 PMID:2752146 PMID:4212045 PMID:4550395 PMID:7803274 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481 		JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:point mutation:CDS:p.P100L (human
ClinVar Annotator: match by term: Erythrocytosis | ClinVar Annotator: match by term: HEMOGLOBIN PUTTELANGE | ClinVar Annotator: match by term: HEMOGLOBIN SAN DIEGO | ClinVar Annotator: match by term: HEMOGLOBIN SHERWOOD FOREST | ClinVar Annotator: match by term: HEMOGLOBIN SOUTH MILWAUKEE | ClinVar Annotator: match by term: HEMOGLOBIN TAK
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:590504 PMID:604313 PMID:1117598 PMID:1201208 PMID:2363414 More... RGD:1600891 NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC 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 Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... RGD:10449378, RGD:10449392 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Serpine1 serpin family E member 1 IEP associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat) RGD PMID:9405184 RGD:11080746 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC ClinVar PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 More... NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22926781 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Polycythemia ClinVar
RGD		 PMID:15642680 PMID:25637381 PMID:25741868 PMID:28492532 PMID:16210343 RGD:1580368 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
DNA:deletion mutation:exon:
DNA:nonsense mutation:exon:5881G>T(human)
DNA:nonsense mutation:cds:6002G>A(human)
DNA:nonsense mutation:cds:1251G>T(human)		 OMIM
CTD
ClinVar
RGD		 PMID:1653276 PMID:1954391 PMID:4052634 PMID:7795221 PMID:8093406 More... RGD:11041638, RGD:11041631, RGD:11041608, RGD:11041605, RGD:11041601 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		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 chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493 		JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign		 OMIM
CTD
ClinVar		 PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 More... NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616 		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 chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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 chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856 		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 chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		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 chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569 		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 chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21685897 RGD:6483049 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
ISS		 ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 | ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT
OMIM:263400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16407130 PMID:17576681 PMID:17579185 PMID:17933562 More... NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18184961 PMID:18378852 PMID:18508787 PMID:18650473 PMID:19208626 More... NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		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 ClinVar
OMIM		 PMID:27651169 PMID:29514032 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
familial erythrocytosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE OMIM
ClinVar		 PMID:124 PMID:14973 PMID:20942 PMID:27132 PMID:29054 More... NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
familial erythrocytosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7 OMIM
ClinVar		 PMID:11123 PMID:701083 PMID:701092 PMID:1390944 PMID:1428951 More... NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
Ensembl chr10:15,307,815...15,338,392 		JBrowse link
G Hba-a3 hemoglobin alpha, adult chain 3 ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7 OMIM
ClinVar		 PMID:1634355 PMID:1634363 PMID:1686260 PMID:1787098 PMID:1988759 More... NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481 		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
DNA:point mutation, deletion: :p.R89C (human)		 OMIM
ClinVar
RGD		 PMID:152321 PMID:1421379 PMID:2542247 PMID:15054810 PMID:25015942 More... RGD:1600522 NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581 		JBrowse link
hypermanganesemia with dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis		 CTD
ClinVar
OMIM		 PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 More... NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		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 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
Ensembl chr 1:141,253,523...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
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		 CTD Direct Evidence: marker/mechanism
OMIM:263300
ClinVar Annotator: match by term: Polycythemia rubra vera		 OMIM
CTD
MouseDO
ClinVar
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
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 chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Familial erythrocytosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Familial erythrocytosis ClinVar PMID:25741868 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: HEMOGLOBIN JOHNSTOWN | ClinVar Annotator: match by term: HEMOGLOBIN NEW MEXICO ClinVar PMID:19257 PMID:2272838 PMID:11074558 PMID:15658189 PMID:17952198 More... NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      hematopoietic system disease 3822
        polycythemia 29
          acquired polycythemia + 0
          hypermanganesemia with dystonia 1 1
          physiological polycythemia 0
          plethora of newborn 0
          primary polycythemia + 24
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3822
          bone marrow disease 839
            polycythemia 29
              acquired polycythemia + 0
              hypermanganesemia with dystonia 1 1
              physiological polycythemia 0
              plethora of newborn 0
              primary polycythemia + 24
paths to the root