Severe Congenital Neutropenia Type 1, Autosomal Dominant - CISMeF
Severe Congenital Neutropenia Type 1, Autosomal DominantNCIt concept
Preferred Label : Severe Congenital Neutropenia Type 1, Autosomal Dominant;
NCIt synonyms : SCN1; Neutropenia, Severe Congenital, 1, Autosomal Dominant;
NCIt related terms : Severe Congenital neutropenia (SCN) 1 - Includes cyclic neutropenia;
NCIt definition : Severe congenital neutropenia inherited in an autosomal dominant pattern and caused
by mutation(s) in the ELANE gene, encoding neutrophil elastase;