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severe congenital neutropenia 7
Summary
- Synonym
-
- SCN7
- autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- 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.
- Super Class
- autosomal recessive disease severe congenital neutropenia
External Links
- Disease Ontology
- DOID:0112129
- Mondo Disease Ontology
- ORDO
- OMIM
