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Metadata
ID DOID:0080625
Name severe congenital neutropenia 1
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
Xrefs

OMIM:202700

Parent Relationships

is_a autosomal dominant disease

is_a severe congenital neutropenia

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