Term Name: severe congenital neutropenia 8
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.
Ontology: Human Disease [DOID:0112135]   ( DOID:0112135 )

Relationships
is a type of: autosomal dominant severe congenital neutropenia