severe congenital neutropenia 8

Term ID

DOID:0112135

Synonyms

• autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
• SCN8
• SDSL
• Shwachman-Diamond syndrome-like

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. https://pubmed.ncbi.nlm.nih.gov/28972538/

References

• OMIM:618752

Ontology

Human Disease   ( DOID:0112135 )