Search on: NUCLEAR ANOMALY, PELGER-HUET 
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Descriptor English:   Pelger-Huet Anomaly 
Descriptor Spanish:   Anomalía de Pelger-Huët 
Descriptor Portuguese:   Anomalia de Pelger-Huët 
Synonyms English:   Anomaly, Pelger-Huet
Anomaly, Pelger-Huet Nuclear
Anomaly, Pelger-Huët
Anomaly, Pelger-Huët Nuclear
Anomaly, Pseudo Pelger-Huet
Anomaly, Pseudo Pelger-Huët
Nuclear Anomaly, Pelger-Huet
Nuclear Anomaly, Pelger-Huët
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities
Pelger Huet Anomaly
Pelger Huet Nuclear Anomaly
Pelger Huët Anomaly
Pelger Huët Nuclear Anomaly
Pelger-Huet Anomaly, Pseudo
Pelger-Huet Nuclear Anomaly
Pelger-Huët Anomaly
Pelger-Huët Anomaly, Pseudo
Pelger-Huët Nuclear Anomaly
Pseudo Pelger Huet Anomaly
Pseudo Pelger Huet Nuclear Anomaly
Pseudo Pelger Huët Anomaly
Pseudo Pelger-Huet Anomaly
Pseudo Pelger-Huet Nuclear Anomaly
Pseudo Pelger-Huët Anomaly  
Tree Number:   C15.378.553.696
C16.320.784
Definition English:   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. 
Indexing Annotation English:   in titles & translations, use diacritic: Huët
See Related English:   Lamin Type B
 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   10574 
Unique Identifier:   D010381 

Occurrence in VHL:
 

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