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DO Term : severe congenital neutropenia 8 [DOID:0112135] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:618752,
  • SDSL,
  • autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities,
  • Shwachman-Diamond syndrome-like,
  • SCN8,
  • 618752
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Ontology Term --> Direct parents