- Concept UI
- M0016097
- Scope Note
- Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.
- Terms
-
Pelger-Huet Anomaly
Preferred Term
Term UI
T030640
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities
Term UI
T786060
Date02/23/2011
LexicalTag
NON
ThesaurusID
-
Pelger-Huet Nuclear Anomaly
Term UI
T786059
Date02/23/2011
LexicalTag
EPO
ThesaurusID
-
Pelger-Huët Anomaly
Term UI
T789894
Date04/28/2011
LexicalTag
EPO
ThesaurusID
NLM (2012)
-
Pelger-Huët Nuclear Anomaly
Term UI
T789895
Date04/28/2011
LexicalTag
EPO
ThesaurusID
NLM (2012)
-
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities
Term UI
T834212
Date12/12/2012
LexicalTag
NON
ThesaurusID
ORD (2010)