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.
DNA:snps:cds:multiple (human) C57BL/6J background ClinVar Annotator: match by term: Hydrocephalus due to aqueductal stenosis CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: X-linked hydrocephalus ClinVar Annotator: match by term: Aqueductal stenosis, X-linked
ClinVar Annotator: match by null ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease ClinVar Annotator: match by term: HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE