. . _:vb50946139 . "ORDO:420702"^^ . . _:vb50946138 . _:vb50946138 . "OMIM:617014"^^ . _:vb50946139 . _:vb50946138 . "severe congenital neutropenia 7"^^ . "disease_ontology"^^ . . "DOID:0112129"^^ . "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 CSF3R on chromosome 1p34.3."^^ . "SCN7"^^ . _:vb50946139 . _:vb50946138 . _:vb50946139 . _:vb50946138 . _:vb50946139 . "autosomal recessive severe congenital neutropenia due to CSF3R deficiency"^^ .