FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term severe congenital neutropenia 5 ID (Ontology) DOID:0112132 (Human Disease)
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.
Also Known As "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" ; "congenital neutropenia-myelofibrosis-nephromegaly syndrome" ; "SCN5" (for all, see Synonyms field below)
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 severe congenital neutropenia 5       1
 for disease ribbon | severe congenital neutropenia 5       1
 model of | severe congenital neutropenia 5       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
physical disorder                  |
 |__severe congenital neutropenia__|
neutropenia                        |
 |__severe congenital neutropenia__|
                                   severe congenital neutropenia 5  1 rec.
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Is a severe congenital neutropenia
autosomal recessive disease
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Synonyms
  • "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT
    "congenital neutropenia-myelofibrosis-nephromegaly syndrome" EXACT
    "SCN5" EXACT OMO:0003012
    "VPS45 deficiency" EXACT
Secondary IDs
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MIM:615285
ORDO:369852