Term Name: | severe congenital neutropenia 7 |
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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 ) |