|OBO ID: DOID:0112132|
|Term Name:||severe congenital neutropenia 5||Search Ontology:|
|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 VPS45 on chromosome 1q21.2. (2)|
|Ontology:||Human Disease (DOID:0112132)|
|is a type of:||
OTHER severe congenital neutropenia 5 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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