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 8 ID (Ontology) DOID:0112135 (Human Disease)
Definition An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2.
Also Known As "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities" ; "SCN8" ; "SDSL" (for all, see Synonyms field below)
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 Genes
 severe congenital neutropenia 8       1
 for disease ribbon | severe congenital neutropenia 8       1
 model of | severe congenital neutropenia 8       1
Spanning Tree (Parents/Children)
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severe congenital neutropenia__
autosomal dominant disease_____|
                               autosomal dominant severe congenital neutropenia
                                |__severe congenital neutropenia 8  1 rec.
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Is a autosomal dominant severe congenital neutropenia
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Synonyms
  • "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities" EXACT
    "SCN8" EXACT OMO:0003012
    "SDSL" EXACT OMO:0003012
    "Shwachman-Diamond syndrome-like" EXACT
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MIM:618752