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Standards Ontologies Notations
Pelger-Huet anomaly

Summary
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.
Super Class
autosomal dominant disease hematopoietic system disease
Disease Ontology
DOID:9631
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3930 LBR lamin B receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
98386 Lbr lamin B receptor
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024