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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.

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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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12/10/2024
MGI 6.24 		The Jackson Laboratory