severe congenital neutropenia 8

Summary

DOID:0112135 - severe congenital neutropenia 8

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:618752 - NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8

MIM:618752 - NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant severe congenital neutropenia (is_a)