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.
An autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects. Caused by homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36.
Synonyms:
exact_synonym:
CILD52; primary ciliary dyskinesia 52, with or without situs invertus