hereditary neutrophilia

Term ID

DOID:0090120

Synonyms

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. (2)

References

• MESH:C563010
• OMIM:162830
• ORDO:279943
• SNOMEDCT_US_2023_03_01:129639005
• UMLS_CUI:C0543669

Ontology

Human Disease   ( DOID:0090120 )