| 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 ) |