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 amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. (DO)
Synonyms:
exact_synonym:
CSNU; CSNU1; CSNU3; cystinurias
narrow_synonym:
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
DNA:missense mutations CTD Direct Evidence: marker/mechanism OMIM:220100 ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I
DNA:missense mutations, nonsense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism OMIM:220100 ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition