Human genes for severe congenital neutropenia 5
Severe congenital neutropenia 5 [DOID:0112132]
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 VPS45 on chromosome 1q21.2.
Synonyms: severe congenital neutropenia 5, DOID:0112132, congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, congenital neutropenia-myelofibrosis-nephromegaly syndrome, SCN5 ...