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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
severe congenital neutropenia 1  
Severe Congenital Neutropenia 11, Autosomal Dominant  
severe congenital neutropenia 2  
severe congenital neutropenia 8  
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. (DO)
Severe Congenital Neutropenia 9, Autosomal Dominant  

Synonyms
Exact Synonyms: SCN8 ;   SDSL ;   Shwachman-Diamond syndrome-like ;   autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities ;   severe congenital neutropenia 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities ;   severe congenital neutropenia, autosomal dominant 8
Primary IDs: OMIM:618752
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/28972538/ "DO" "DO"

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