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

• OMIM:613107

Ontology

Human Disease   ( DOID:0112131 )