Search Ontology:
Human Disease
severe congenital neutropenia 14
- Term ID
- DOID:0061354
- 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. https://pubmed.ncbi.nlm.nih.gov/37612131/
- References
- Ontology
- Human Disease ( DOID:0061354 )
Other Pages
Genes Involved
Zebrafish Models