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 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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