severe congenital neutropenia 2

Term ID

DOID:0112131

Synonyms

SCN2

Definition

An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. https://pubmed.ncbi.nlm.nih.gov/12778173/

References

MIM:613107

Ontology

Human Disease ( DOID:0112131 )

Relationships

is a type of: autosomal dominant severe congenital neutropenia

autosomal dominant severe congenital neutropenia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models