Version: 8.0.0
Date: Tue Jan 28 2025
severe congenital neutropenia 7
DOID:0112129
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

severe congenital neutropenia 7

Definition
A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3.
Synonyms
  • autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • SCN7
Cross References
Parent Terms
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None
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