OBO ID: DOID:0112129
Term Name: severe congenital neutropenia 7 Search Ontology:
Synonyms:
  • autosomal recessive severe congenital neutropenia due to CSF3R deficiency
  • SCN7
Definition: A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3. (2)
References:
Ontology: Human Disease   (DOID:0112129)
OTHER severe congenital neutropenia 7 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CSF3R Neutropenia, severe congenital, 7, autosomal recessive 617014
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None