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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: MIM:162800;   OMIA:000248
 xref: GARD:6229;   ICD10CM:D70.4;   ICD9CM:288.02;   NCI:C3820;   ORDO:2686
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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 chrNW_004955495:6,818,002...6,838,177
Ensembl chrNW_004955495:6,815,562...6,836,772 		JBrowse link
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,159,314...6,167,429
Ensembl chrNW_004955495:6,159,314...6,168,123 		JBrowse link
G Adamtsl5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955764:4,813...12,653
Ensembl chrNW_004955764:5,177...12,653 		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 chrNW_004955425:22,792,616...23,051,509
Ensembl chrNW_004955425:22,792,616...23,051,737 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,466,434...6,489,612
Ensembl chrNW_004955495:6,467,357...6,489,633 		JBrowse link
G Arhgap45 Rho GTPase activating protein 45 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,800,988...6,815,941
Ensembl chrNW_004955495:6,797,302...6,815,651 		JBrowse link
G Arid3a AT-rich interaction domain 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,884,077...6,912,625
Ensembl chrNW_004955495:6,884,598...6,908,574 		JBrowse link
G Atp5f1d ATP synthase F1 subunit delta ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,664,394...6,666,693
Ensembl chrNW_004955495:6,664,394...6,666,693 		JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,222,764...6,242,104
Ensembl chrNW_004955495:6,222,602...6,242,569 		JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,072,112...6,085,180
Ensembl chrNW_004955495:6,072,112...6,084,298 		JBrowse link
G Cbarp CACN subunit beta associated regulatory protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,671,719...6,678,338
Ensembl chrNW_004955495:6,671,726...6,677,205 		JBrowse link
G Cfd complement factor D ISO ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:11001877 PMID:11675333 PMID:14962902 PMID:16079102 PMID:16551967 More... NCBI chrNW_004955495:6,955,612...6,961,317 JBrowse link
G Cirbp cold inducible RNA binding protein ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,634,389...6,640,800
Ensembl chrNW_004955495:6,634,394...6,640,800 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,839,436...6,848,208
Ensembl chrNW_004955495:6,839,436...6,848,207 		JBrowse link
G Csnk1g2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,087,159...6,103,413
Ensembl chrNW_004955495:6,087,159...6,103,412 		JBrowse link
G CUNH19orf25 chromosome unknown C19orf25 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,461,082...6,464,720
Ensembl chrNW_004955495:6,461,082...6,464,720 		JBrowse link
G Dazap1 DAZ associated protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,499,553...6,516,227
Ensembl chrNW_004955495:6,497,890...6,524,462 		JBrowse link
G Efna2 ephrin A2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,614,828...6,627,287
Ensembl chrNW_004955495:6,614,791...6,627,287 		JBrowse link
G Fam174c family with sequence similarity 174 member C ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,631,767...6,634,282
Ensembl chrNW_004955495:6,631,767...6,634,282 		JBrowse link
G Fgf22 fibroblast growth factor 22 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:7,099,616...7,102,749
Ensembl chrNW_004955495:7,100,309...7,102,694 		JBrowse link
G Fstl3 follistatin like 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:7,077,424...7,082,768
Ensembl chrNW_004955495:7,078,427...7,082,717 		JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424 		JBrowse link
G Gpx4 glutathione peroxidase 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,767,969...6,772,256
Ensembl chrNW_004955495:6,767,975...6,772,178 		JBrowse link
G Grin3b glutamate ionotropic receptor NMDA type subunit 3B ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,859,909...6,866,297
Ensembl chrNW_004955495:6,859,909...6,866,306 		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 chrNW_004955495:7,124,060...7,143,730
Ensembl chrNW_004955495:7,124,640...7,194,223 		JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,014,852...6,018,342
Ensembl chrNW_004955495:6,015,038...6,018,162 		JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,918,632...6,921,891 JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,178,565...6,189,469 JBrowse link
G LOC102018844 neutrophil elastase ISO ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia OMIM
ClinVar		 PMID:3124897 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 More... NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106 		JBrowse link
G LOC102028311 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,368,827...6,372,938
Ensembl chrNW_004955495:6,368,827...6,372,938 		JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,385,449...6,388,911
Ensembl chrNW_004955495:6,336,367...6,389,056 		JBrowse link
G Med16 mediator complex subunit 16 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,939,084...6,955,885
Ensembl chrNW_004955495:6,934,078...6,959,190 		JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,394,784...6,401,963 JBrowse link
G Midn midnolin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,651,331...6,661,846 JBrowse link
G Misp mitotic spindle positioning ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:7,034,664...7,044,886
Ensembl chrNW_004955495:7,032,876...7,038,916 		JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,048,346...6,061,579
Ensembl chrNW_004955495:6,048,128...6,062,913 		JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,018,368...6,033,399
Ensembl chrNW_004955495:6,018,368...6,035,489 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,540,360...6,548,072
Ensembl chrNW_004955495:6,540,450...6,547,975 		JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,246,855...6,267,989 JBrowse link
G Palm paralemmin ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:7,044,942...7,060,022
Ensembl chrNW_004955495:7,046,261...7,055,548 		JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,424,426...6,460,252
Ensembl chrNW_004955495:6,453,991...6,459,744 		JBrowse link
G Plk5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,415,172...6,424,445 JBrowse link
G Plppr3 phospholipid phosphatase related 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,980,213...6,990,331
Ensembl chrNW_004955495:6,980,549...6,994,046 		JBrowse link
G Polr2e RNA polymerase II, I and III subunit E ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,779,557...6,788,241 JBrowse link
G Polrmt RNA polymerase mitochondrial ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:7,111,271...7,124,005
Ensembl chrNW_004955495:7,111,260...7,124,291 		JBrowse link
G Prss57 serine protease 57 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:7,067,844...7,077,048 JBrowse link
G Ptbp1 polypyrimidine tract binding protein 1 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,990,565...7,002,492
Ensembl chrNW_004955495:6,987,182...7,002,492 		JBrowse link
G Pwwp3a PWWP domain containing 3A, DNA repair factor ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,552,305...6,574,191
Ensembl chrNW_004955495:6,552,584...6,573,016 		JBrowse link
G R3hdm4 R3H domain containing 4 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,926,619...6,936,128
Ensembl chrNW_004955495:6,919,236...6,936,128 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955764:17,640...22,996
Ensembl chrNW_004955764:3,793...23,152 		JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,194,380...6,219,907
Ensembl chrNW_004955495:6,194,521...6,220,031 		JBrowse link
G Rnf126 ring finger protein 126 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:7,083,952...7,098,442
Ensembl chrNW_004955495:7,095,336...7,102,757 		JBrowse link
G Rps15 ribosomal protein S15 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,492,968...6,495,435
Ensembl chrNW_004955495:6,492,968...6,495,435 		JBrowse link
G Sbno2 strawberry notch homolog 2 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,709,190...6,770,816
Ensembl chrNW_004955495:6,729,205...6,772,180 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487 		JBrowse link
G Tmem259 transmembrane protein 259 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,856,609...6,859,948
Ensembl chrNW_004955495:6,852,278...6,859,351 		JBrowse link
G Wdr18 WD repeat domain 18 ISO ClinVar Annotator: match by term: Cyclical neutropenia ClinVar PMID:28492532 NCBI chrNW_004955495:6,869,543...6,877,058
Ensembl chrNW_004955495:6,868,492...6,877,058 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    disease of anatomical entity 14034
      hematopoietic system disease 3392
        leukocyte disease 1173
          leukopenia 474
            agranulocytosis 439
              neutropenia 436
                cyclic hematopoiesis 59
Path 2
Term Annotations click to browse term
  disease 14341
    disease of anatomical entity 14034
      Hemic and Lymphatic Diseases 3824
        hematopoietic system disease 3392
          leukocyte disease 1173
            leukopenia 474
              agranulocytosis 439
                neutropenia 436
                  cyclic hematopoiesis 59
paths to the root