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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 SRP54 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)
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last database update
10/05/2021
MGI 6.17
The Jackson Laboratory