OBO ID: DOID:0080625
Term Name: severe congenital neutropenia 1 Search Ontology:
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:
Ontology: Human Disease   ( DOID:0080625 )
OTHER severe congenital neutropenia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ELANE Neutropenia, severe congenital 1, autosomal dominant
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None