OBO ID: DOID:0112133
Term Name: severe congenital neutropenia 3 Search Ontology:
Synonyms:
  • infantile agranulocytosis
  • Kostmann disease
  • Kostmann syndrome
  • SCN3
Definition: A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3. (2)
References:
Ontology: Human Disease   (DOID:0112133)
OTHER severe congenital neutropenia 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HAX1 Neutropenia, severe congenital 3, autosomal recessive 610738
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None