About   Help   FAQ
Disease Ontology Browser
severe congenital neutropenia 8 (DOID:0112135)
Alliance: disease page
Synonyms: autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities; SCN8; SDSL; Shwachman-Diamond syndrome-like
Alt IDs: OMIM:618752
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory