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.
SLC7A9-RELATED CONDITION; cystinuria type 1; cystinuria type A; cystinuria type A-B; cystinuria type A/B; cystinuria type B; cystinuria type I; cystinuria type I - A; cystinuria type II; cystinuria type II - A; cystinuria type II - B; cystinuria type III; cystinuria type NON-I
ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC3A1-related condition
DNA:missense mutations ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC3A1-related condition OMIM:220100 CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations:cds:multiple (human) OMIM:220100 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC7A9-related condition