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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:cyclic hematopoiesis
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Accession:DOID:5339 term browser browse the term
Definition:A rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections. (OMIM)
Synonyms:exact_synonym: cyclic agranulocytosis;   cyclic leucopenia;   cyclic neutropenia;   cyclical neutropenia;   periodic neutropenia
 broad_synonym: ELANE-RELATED CONDITION
 primary_id: MESH:C536227
 alt_id: OMIA:000248;   OMIM:162800
 xref: GARD:6229;   ICD10CM:D70.4;   ICD9CM:288.02;   NCI:C3820;   ORDO:2686
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
cyclic hematopoiesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA7 ATP binding cassette subfamily A member 7 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,040,107...1,065,572
Ensembl chr19:1,039,997...1,065,572
JBrowse link
G ABHD17A abhydrolase domain containing 17A, depalmitoylase IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,876,810...1,885,496
Ensembl chr19:1,876,810...1,885,496
JBrowse link
G ADAMTSL5 ADAMTS like 5 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,505,022...1,513,019
Ensembl chr19:1,505,022...1,513,604
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
JBrowse link
G AP3B1 adaptor related protein complex 3 subunit beta 1 ISO Neutropenia, cyclic OMIA PMID:47249 PMID:127610 PMID:173440 PMID:336117 PMID:347941 More... NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G ARHGAP45 Rho GTPase activating protein 45 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,065,959...1,086,628
Ensembl chr19:1,065,923...1,086,628
JBrowse link
G ARID3A AT-rich interaction domain 3A IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:925,732...975,939
Ensembl chr19:925,781...975,939
JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825
JBrowse link
G ATP8B3 ATPase phospholipid transporting 8B3 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,782,075...1,812,276
Ensembl chr19:1,782,075...1,812,276
JBrowse link
G AZU1 azurocidin 1 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:827,837...832,018
Ensembl chr19:825,097...832,018
JBrowse link
G BTBD2 BTB domain containing 2 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,985,448...2,015,714
Ensembl chr19:1,985,438...2,034,881
JBrowse link
G C19orf25 chromosome 19 open reading frame 25 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,473,201...1,479,215
Ensembl chr19:1,461,143...1,479,219
JBrowse link
G CBARP CACN subunit beta associated regulatory protein IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,228,287...1,238,502
Ensembl chr19:1,228,287...1,238,027
JBrowse link
G CFD complement factor D IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
JBrowse link
G CIRBP cold inducible RNA binding protein IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,269,332...1,274,880
Ensembl chr19:1,259,384...1,274,880
JBrowse link
G CNN2 calponin 2 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,026,608...1,039,065
Ensembl chr19:1,026,586...1,039,068
JBrowse link
G CSNK1G2 casein kinase 1 gamma 2 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,941,172...1,981,338
Ensembl chr19:1,941,172...1,981,338
JBrowse link
G DAZAP1 DAZ associated protein 1 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,407,586...1,435,684
Ensembl chr19:1,407,569...1,435,687
JBrowse link
G EFNA2 ephrin A2 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,284,227...1,301,431
Ensembl chr19:1,285,873...1,301,431
JBrowse link
G ELANE elastase, neutrophil expressed IAGP
EXP
DNA:mutations: :
ClinVar Annotator: match by term: Cyclical neutropenia
ClinVar Annotator: match by term: Cyclic hematopoiesis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11675333 More... RGD:10450519 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G FAM174C family with sequence similarity 174 member C IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,275,530...1,279,228
Ensembl chr19:1,275,530...1,279,244
JBrowse link
G FGF22 fibroblast growth factor 22 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:639,879...644,373
Ensembl chr19:639,879...644,373
JBrowse link
G FSTL3 follistatin like 3 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:676,392...683,385
Ensembl chr19:676,392...683,392
JBrowse link
G GAMT guanidinoacetate N-methyltransferase IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570
JBrowse link
G GPX4 glutathione peroxidase 4 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
JBrowse link
G GRIN3B glutamate ionotropic receptor NMDA type subunit 3B IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,000,419...1,009,732
Ensembl chr19:1,000,419...1,009,732
JBrowse link
G HCN2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:589,881...617,159
Ensembl chr19:589,881...617,159
JBrowse link
G IZUMO4 IZUMO family member 4 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:2,096,915...2,099,590
Ensembl chr19:2,096,429...2,099,593
JBrowse link
G KISS1R KISS1 receptor IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
JBrowse link
G KLF16 KLF transcription factor 16 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,852,399...1,876,536
Ensembl chr19:1,852,399...1,863,579
JBrowse link
G MBD3 methyl-CpG binding domain protein 3 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,573,596...1,592,865
Ensembl chr19:1,573,596...1,592,865
JBrowse link
G MED16 mediator complex subunit 16 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:867,963...893,187
Ensembl chr19:867,630...893,218
JBrowse link
G MEX3D mex-3 RNA binding family member D IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,554,672...1,568,325
Ensembl chr19:1,554,672...1,568,325
JBrowse link
G MIDN midnolin IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,248,583...1,259,143
Ensembl chr19:1,248,553...1,259,143
JBrowse link
G MIR1909 microRNA 1909 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,816,159...1,816,238
Ensembl chr19:1,816,159...1,816,238
JBrowse link
G MISP mitotic spindle positioning IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:748,438...764,318
Ensembl chr19:751,112...764,318
JBrowse link
G MKNK2 MAPK interacting serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:2,037,471...2,051,244
Ensembl chr19:2,037,465...2,051,244
JBrowse link
G MOB3A MOB kinase activator 3A IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:2,071,036...2,096,515
Ensembl chr19:2,071,036...2,096,673
JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589
JBrowse link
G ONECUT3 one cut homeobox 3 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,753,506...1,780,988
Ensembl chr19:1,753,506...1,780,988
JBrowse link
G PALM paralemmin IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:708,935...748,329
Ensembl chr19:708,935...748,329
JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,481,428...1,490,876
Ensembl chr19:1,481,428...1,490,752
JBrowse link
G PLK5 polo like kinase 5 (inactive) IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,524,077...1,536,046
Ensembl chr19:1,508,023...1,536,046
JBrowse link
G PLPPR3 phospholipid phosphatase related 3 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:812,488...823,797
Ensembl chr19:812,488...821,955
JBrowse link
G POLR2E RNA polymerase II, I and III subunit E IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,086,574...1,095,375
Ensembl chr19:1,086,574...1,095,380
JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
JBrowse link
G PRSS57 serine protease 57 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:685,546...695,452
Ensembl chr19:685,546...695,498
JBrowse link
G PRTN3 proteinase 3 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
JBrowse link
G PTBP1 polypyrimidine tract binding protein 1 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:797,452...812,312
Ensembl chr19:797,075...812,327
JBrowse link
G PWWP3A PWWP domain containing 3A, DNA repair factor IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,354,959...1,378,429
Ensembl chr19:1,354,711...1,378,431
JBrowse link
G R3HDM4 R3H domain containing 4 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:896,503...913,219
Ensembl chr19:896,503...913,245
JBrowse link
G REEP6 receptor accessory protein 6 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,491,181...1,497,927
Ensembl chr19:1,491,166...1,497,927
JBrowse link
G REXO1 RNA exonuclease 1 homolog IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,815,248...1,848,483
Ensembl chr19:1,815,248...1,848,483
JBrowse link
G RNF126 ring finger protein 126 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:647,526...663,214
Ensembl chr19:647,526...663,233
JBrowse link
G RPS15 ribosomal protein S15 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,438,396...1,440,495
Ensembl chr19:1,438,358...1,440,495
JBrowse link
G SBNO2 strawberry notch homolog 2 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,107,638...1,174,268
Ensembl chr19:1,107,637...1,174,268
JBrowse link
G SCAMP4 secretory carrier membrane protein 4 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,905,399...1,926,013
Ensembl chr19:1,905,214...1,926,013
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TCF3 transcription factor 3 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
JBrowse link
G TMEM259 transmembrane protein 259 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,009,653...1,021,123
Ensembl chr19:1,009,648...1,021,179
JBrowse link
G UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:1,597,169...1,605,462
Ensembl chr19:1,597,169...1,605,473
JBrowse link
G WDR18 WD repeat domain 18 IAGP ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr19:982,928...994,557
Ensembl chr19:984,332...998,438
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      hematopoietic system disease 4977
        leukocyte disease 1465
          leukopenia 632
            agranulocytosis 586
              neutropenia 581
                cyclic hematopoiesis 64
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      Hemic and Lymphatic Diseases 5692
        hematopoietic system disease 4977
          leukocyte disease 1465
            leukopenia 632
              agranulocytosis 586
                neutropenia 581
                  cyclic hematopoiesis 64
paths to the root