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 nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)
CTD Direct Evidence: marker/mechanism OMIM:607821 ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition