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.
Characterized by the onset of progressive sensorineural hearing loss at an average age of 24 years. Caused by heterozygous mutation in the MAP1B gene on chromosome 5q13. One such family has been reported.