Term Name: severe congenital neutropenia 7
Synonyms: autosomal recessive severe congenital neutropenia due to CSF3R deficiency, SCN7
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.
Ontology: Human Disease [DOID:0112129]   ( DOID:0112129 )

Relationships
is a type of: autosomal recessive disease severe congenital neutropenia