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Dysplastic granulopoesis

MedGen UID:
868630
Concept ID:
C4023030
Disease or Syndrome
HPO: HP:0012136

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysplastic granulopoesis

Conditions with this feature

Neutropenia, severe congenital, 10, autosomal recessive
MedGen UID:
1851433
Concept ID:
C5882756
Disease or Syndrome
Autosomal recessive severe congenital neutropenia-10 (SCN10) is characterized by infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Anemia and thrombocytopenia may be transiently present. The disorder results from impaired development of granulocyte precursors and neutrophils (Schmaltz-Panneau et al., 2021). For discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).

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