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.
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. (DO)
Synonyms:
exact_synonym:
PHA; Pelger Huet nuclear anomaly; Pelger Huët Anomaly; Pelger Huët Nuclear Anomaly; ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities; pseudo Pelger Huet anomaly; pseudo Pelger Huet nuclear anomaly; pseudo Pelger Huët anomaly
ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
ClinVar Annotator: match by term: NBAS-related condition | ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly