Term Name: severe congenital neutropenia 14
Synonyms: SCN14
Definition: A severe congenital neutropenia characterized by recurrent febrile infections beginning in infancy or early childhood and associated with neutropenia and that has_material_basis_in homozygous mutation in the CSF3 gene on chromosome 17q21.1.
Ontology: Human Disease [DOID:0061354]   ( DOID:0061354 )

Relationships
is a type of: autosomal recessive disease severe congenital neutropenia