Preferred Label : pelger-huet anomaly;
MeSH definition : 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.;
MeSH synonym : anomaly, pelger-huet; Pelger-Huët nuclear anomaly; anomaly, Pelger-Huët nuclear; nuclear anomaly, Pelger-Huët; pelger huët nuclear anomaly; ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities; pelger huet anomaly; Pelger-Huët anomaly; ovoid neutrophil nuclei, developmental delay, epilepsy, and skeletal abnormalities; Anomaly, Pelger-Huët; Pelger Huët Anomaly; Pelger-Huet Nuclear Anomaly; Anomaly, Pelger-Huet Nuclear; Nuclear Anomaly, Pelger-Huet; Pelger Huet Nuclear Anomaly;
CISMeF synonym : pelger-huet's anomaly; pelger huet's anomaly;
DeCS synonym : Pseudo Pelger Hu t Anomaly; Pelger Hu t Anomaly; Pelger-Hu t Nuclear Anomaly; Pelger-Hu t Anomaly; Pseudo Pelger-Hu t Anomaly; Pelger Hu t Nuclear Anomaly;
Related MeSH term : pseudo Pelger-Huet anomaly; Anomaly, Pseudo Pelger-Huet; Pelger-Huet Anomaly, Pseudo; Pseudo Pelger Huet Anomaly; Pseudo Pelger-Huët Anomaly; Anomaly, Pseudo Pelger-Huët; Pelger-Huët Anomaly, Pseudo; Pseudo Pelger Huët Anomaly; Pseudo Pelger-Huet Nuclear Anomaly; Pseudo Pelger Huet Nuclear Anomaly;
MeSH annotation : in titles & translations, use diacritic: Huët;
Origin ID : D010381;
UMLS CUI : C0030779;
Allowable qualifiers
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term
- Record concept(s)
- See also
- Semantic type(s)
- UMLS correspondences (same concept)
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.
