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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:essential thrombocythemia
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Accession:DOID:2224 term browser browse the term
Definition:A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. (DO)
Synonyms:exact_synonym: Essential Thrombocythemias;   Hemorrhagic Thrombocythemia;   Hemorrhagic Thrombocythemias;   Idiopathic Thrombocythemia;   Idiopathic Thrombocythemias;   Primary Thrombocythemia;   Primary Thrombocythemias;   THCYT1;   autosomal dominant thrombocytoses;   autosomal dominant thrombocytosis;   essential thrombocythaemia;   familial thrombocytosis;   hereditary thrombocythemia;   primary thrombocytoses;   primary thrombocytosis;   thrombocythemia 1;   thrombocytosis 1
 narrow_synonym: familial essential thrombocythemia
 primary_id: MESH:D013920
 alt_id: OMIM:187950
 xref: EFO:0000479;   GARD:6594;   ICD10CM:D47.3;   ICD9CM:238.71;   NCI:C3407;   ORDO:3318;   ORDO:71493
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,579,798...105,651,554
Ensembl chr12:105,582,395...105,651,470 		JBrowse link
G Bdkrb1 bradykinin receptor, beta 1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,570,350...105,571,770
Ensembl chr12:105,569,344...105,571,687 		JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496 		JBrowse link
G Calr calreticulin severity ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Thrombocythemia 1		 OMIM
ClinVar
RGD		 PMID:24325356 PMID:24325359 PMID:25741868 PMID:25860380 PMID:24496303 RGD:11352747, RGD:11352751 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563 		JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 PMID:25741868 NCBI chr 5:121,996,025...122,188,522
Ensembl chr 5:121,994,429...122,188,165 		JBrowse link
G D430019H16Rik RIKEN cDNA D430019H16 gene ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,420,115...105,459,354
Ensembl chr12:105,420,115...105,459,354 		JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr10:79,722,146...79,724,050
Ensembl chr10:79,722,081...79,724,049 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,651,611...105,669,317
Ensembl chr12:105,651,088...105,669,282 		JBrowse link
G Jak2 Janus kinase 2 severity ISO
IAGP		 DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521		 CTD
MouseDO
RGD		 PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480 		JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO DNA:missense mutation:cds:pS505N (human)
mRNA, protein:decreased expression:blood, platelet (human)
ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1		 ClinVar
RGD		 PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More... RGD:10449014, RGD:10449016 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710 		JBrowse link
G Myb myeloblastosis oncogene IAGP OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883 		JBrowse link
G Pdgfa platelet derived growth factor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar		 PMID:15705783 PMID:20404132 PMID:23812944 PMID:25741868 PMID:27651169 More... NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709 		JBrowse link
G Tcl1 T cell lymphoma breakpoint 1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,183,012...105,188,996
Ensembl chr12:105,183,009...105,189,052 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Thpo thrombopoietin ISO DNA:mutation:splice junction:
ClinVar Annotator: match by term: Thrombocythemia 1		 OMIM
ClinVar
RGD		 PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More... RGD:1580083 NCBI chr16:20,543,204...20,553,261
Ensembl chr16:20,543,204...20,553,261 		JBrowse link
G Tunar Tcl1 upstream neural differentiation associated RNA ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr12:105,303,087...105,350,191
Ensembl chr12:105,300,129...105,350,191 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337 		JBrowse link
G Vwf Von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      hematopoietic system disease 3274
        blood coagulation disease 945
          hemorrhagic disease 899
            blood platelet disease 364
              thrombocytosis 36
                essential thrombocythemia 23
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Hemic and Lymphatic Diseases 3776
        hematopoietic system disease 3274
          Hematologic Neoplasms 1014
            hematologic cancer 1014
              bone marrow cancer 495
                myeloid neoplasm 311
                  thrombocytosis 36
                    essential thrombocythemia 23
paths to the root