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

• MIM:617014
• ORDO:420702

Ontology

Human Disease   ( DOID:0112129 )