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severe congenital neutropenia

Disease Summary
Associated Targets (9)
Tbio

7

Tclin

2


GARD Rare
Disease Ontology Description A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
Mondo Term and Equivalent IDs
MONDO:0018542:  severe congenital neutropenia
ICD9:288.01: 
OMIMPS:202700: 
Orphanet:42738: 
SCTID:89655007: