| 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 ) |