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cystinuria

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Explore Associated Targets
Mondo Description Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.
Uniprot Description An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure.
Disease Ontology Description An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder.
Mondo Term and Equivalent IDs
MONDO:0009067:  cystinuria
GARD:0006237: 
MESH:D003555: 
NCIT:C84664: 
OMIM:220100: CYSTINURIA
Orphanet:214: 
SCTID:85020001: 
UMLS:C0010691: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)