severe congenital neutropenia 1

Term ID

DOID:0080625

Synonyms

Definition

A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/17133096

References

• OMIM:202700

Ontology

Human Disease   ( DOID:0080625 )