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Metadata
ID DOID:9631
Name Pelger-Huet anomaly
Definition A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.
https://www.ncbi.nlm.nih.gov/pubmed/12118250
Xrefs

GARD:9148

MESH:D010381

NCI:C85002

OMIM:169400

SNOMEDCT_US_2020_09_01:85559002

UMLS_CUI:C0030779

Subsets

NCIthesaurus

Parent Relationships

is_a hematopoietic system disease

is_a autosomal dominant disease

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