Term Name: severe congenital neutropenia 5
Synonyms: congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, congenital neutropenia-myelofibrosis-nephromegaly syndrome, SCN5, VPS45 deficiency
Definition: A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2.
Ontology: Human Disease [DOID:0112132]   ( DOID:0112132 )

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