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Human Disease

severe congenital neutropenia 7

Term ID
DOID:0112129
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 the CSF3R gene on chromosome 1p34.3. (2)
References
Ontology
Human Disease   ( DOID:0112129 )
Relationships
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Genes Involved
Zebrafish Models