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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 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
JBrowse link
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,124,332...9,132,762
Ensembl chr 7:9,124,332...9,130,762
JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,362,623...9,371,248
Ensembl chr 7:9,363,237...9,370,285
JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340
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 2:25,600,069...25,800,937
Ensembl chr 2:25,600,040...25,800,935
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310
JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,674,873...9,690,286
Ensembl chr 7:9,674,897...9,690,268
JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,755,291...9,781,260
Ensembl chr 7:9,755,294...9,780,599
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,175,544...9,195,449
Ensembl chr 7:9,175,391...9,195,442
JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,058,609...9,075,341
Ensembl chr 7:9,060,788...9,075,344
JBrowse link
G C7h19orf25 similar to human chromosome 19 open reading frame 25 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,390,255...9,392,383 JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,566,637...9,575,204
Ensembl chr 7:9,566,364...9,575,204
JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,533,857...9,538,899
Ensembl chr 7:9,424,178...9,538,818
JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656
JBrowse link
G Csnk1g2 casein kinase 1, gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,076,739...9,095,082
Ensembl chr 7:9,076,740...9,095,052
JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,423,673...9,448,116
Ensembl chr 7:9,424,178...9,538,818
JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,515,635...9,528,071
Ensembl chr 7:9,516,429...9,527,061
JBrowse link
G Elane elastase, neutrophil expressed ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia
OMIM
CTD
ClinVar
RGD
PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 More... RGD:10450519 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,531,995...9,533,705 JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,947,632...9,956,918
Ensembl chr 7:9,948,071...9,950,486
JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,923,574...9,929,223
Ensembl chr 7:9,923,576...9,939,639
JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,448,590...9,451,413
Ensembl chr 7:9,448,628...9,451,778
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,730,861...9,737,183
Ensembl chr 7:9,730,862...9,737,183
JBrowse link
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,969,801...9,988,839
Ensembl chr 7:9,970,368...9,988,841
JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,007,276...9,010,428
Ensembl chr 7:9,007,280...9,010,032
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,138,503...9,148,322
Ensembl chr 7:9,138,503...9,148,317
JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165
JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,798,641...9,811,172
Ensembl chr 7:9,798,668...9,811,172
JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096
JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,548,100...9,559,605
Ensembl chr 7:9,549,650...9,559,752
JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,870,390...9,886,541
Ensembl chr 7:9,870,444...9,886,541
JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,039,771...9,050,832
Ensembl chr 7:9,039,728...9,050,827
JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,010,490...9,027,888
Ensembl chr 7:9,010,587...9,027,879
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,199,997...9,219,303
Ensembl chr 7:9,200,035...9,219,158
Ensembl chr 7:9,200,035...9,219,158
JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,886,634...9,912,389
Ensembl chr 7:9,886,643...9,912,555
JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585
JBrowse link
G Plk5 polo-like kinase 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,346,777...9,367,923
Ensembl chr 7:9,346,777...9,355,196
JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,831,162...9,842,434
Ensembl chr 7:9,831,162...9,845,296
JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,959,532...9,969,791
Ensembl chr 7:9,959,576...9,969,791
JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,915,667...9,922,996
Ensembl chr 7:9,917,484...9,922,922
JBrowse link
G Prtn3 proteinase 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,842,574...9,852,332
Ensembl chr 7:9,842,574...9,852,397
JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,465,180...9,482,053
Ensembl chr 7:9,465,195...9,481,966
JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,790,401...9,797,512
Ensembl chr 7:9,790,322...9,797,512
JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,154,050...9,174,035
Ensembl chr 7:9,154,061...9,173,454
JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,939,359...9,946,963
Ensembl chr 7:9,938,229...9,946,738
JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,605,572...9,649,529
Ensembl chr 7:9,605,627...9,649,527
JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,724,196...9,730,932
Ensembl chr 7:9,722,485...9,730,932
JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750
JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chr 7:9,740,245...9,748,041
Ensembl chr 7:9,739,604...9,748,070
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      hematopoietic system disease 3351
        leukocyte disease 1310
          leukopenia 560
            agranulocytosis 492
              neutropenia 488
                cyclic hematopoiesis 62
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      Hemic and Lymphatic Diseases 3860
        hematopoietic system disease 3351
          leukocyte disease 1310
            leukopenia 560
              agranulocytosis 492
                neutropenia 488
                  cyclic hematopoiesis 62
paths to the root