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Human Disease
severe congenital neutropenia 5
- Term ID
- DOID:0112132
- Synonyms
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- 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. (2)
- References
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- MIM:615285
- ORDO:369852
- Ontology
- Human Disease ( DOID:0112132 )
- is a type of
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Genes Involved
Zebrafish Models