Term Name: | severe congenital neutropenia 8 |
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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 ) |