RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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.
Synonyms:
exact_synonym:
PHA; Pelger Huet nuclear anomaly; Pelger Huët Anomaly; Pelger Huët Nuclear Anomaly; Pseudo Pelger Huet Anomaly; ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities; pseudo Pelger Huet nuclear anomaly; pseudo Pelger Huët anomaly