OBO ID: DOID:0112131
Term Name: severe congenital neutropenia 2 Search Ontology:
Synonyms:
  • SCN2
Definition: An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in GFI1 on chromosome 1p22.1. https://pubmed.ncbi.nlm.nih.gov/12778173/
References:
Ontology: Human Disease   (DOID:0112131)
OTHER severe congenital neutropenia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GFI1 Neutropenia, severe congenital 2, autosomal dominant 613107
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None