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cyclic hematopoiesis

Disease Summary
Associated Targets (2)
Tclin

2


GARD Rare
Mondo Description A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.
Uniprot Description Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.
Mondo Term and Equivalent IDs
MONDO:0008090:  cyclic hematopoiesis
COHD:432297: 
GARD:0006229: 
ICD9:288.02: 
MESH:C536227: 
NCIT:C3820: 
Orphanet:2686: 
SCTID:191347008: