Pelger-Huet anomaly

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Information
Disease name
Pelger-Huet anomaly
Disease ID
DOID:9631
Description
"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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12118250]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:74
Cross Reference ID (Disease Ontology)
GARD:9148
Cross Reference ID (Disease Ontology)
MESH:D010381
Cross Reference ID (Disease Ontology)
MIM:169400
Cross Reference ID (Disease Ontology)
NCI:C85002
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:85559002
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0030779
MeSH unique ID (MeSH (Medical Subject Headings))
D010381