Metadata | |
---|---|
ID | DOID:0090120 |
Name | hereditary neutrophilia |
Definition | A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/25189721, https://www.omim.org/entry/162830 |
Xrefs |
SNOMEDCT_US_2023_03_01:129639005 |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a leukocyte disease |