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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:Sezary's disease
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Accession:DOID:8541 term browser browse the term
Definition:A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
Synonyms:exact_synonym: Sezary Erythroderma;   Sezary Lymphoma;   Sezary disease;   Sezary syndrome;   Sezary's Lymphoma;   Sezarys Lymphoma
 narrow_synonym: SEZARY SYNDROME, SOMATIC
 primary_id: MESH:D012751
 xref: EFO:1000785;   GARD:7629;   ICD10CM:C84.1;   ICD9CM:202.2;   NCI:C3366
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Sezary's disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Bcl10 BCL10, immune signaling adaptor ISO ClinVar Annotator: match by term: Sezary syndrome ClinVar PMID:9989495 NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brd9 bromodomain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 1:29,329,981...29,357,285
Ensembl chr 1:29,329,985...29,357,016 		JBrowse link
G Card11 caspase recruitment domain family, member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 PMID:26551670 NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047 		JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr  X:66,395,330...66,399,026
Ensembl chr  X:66,392,542...66,399,823 		JBrowse link
G Kmt2c lysine methyltransferase 2C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:16403914 RGD:8661723 NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26258847 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551667 PMID:26551670 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26551670 NCBI chr17:51,948,948...52,116,018
Ensembl chr17:51,948,948...52,115,214 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      primary immunodeficiency disease 4153
        lymphoproliferative syndrome 1058
          Sezary's disease 26
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      Immune & Inflammatory Diseases 5573
        immune system disease 4780
          primary immunodeficiency disease 4153
            lymphoproliferative syndrome 1058
              lymphoma 580
                non-Hodgkin lymphoma 490
                  T-cell non-Hodgkin lymphoma 190
                    mature T-cell and NK-cell lymphoma 66
                      peripheral T-cell lymphoma 58
                        primary cutaneous T-cell non-Hodgkin lymphoma 52
                          Sezary's disease 26
paths to the root