xanthinuria type I https://www.malacards.org/card/xanthinuria_type_i xanthine dehydrogenase deficiency XDH deficiency isolated xanthine oxidase deficiency SCTID:72682008 xanthine oxidoreductase deficiency MONDO:0010209 XOR deficiency GARD:0005621 xanthinuria type 1 UMLS:C0268118 XAN1 A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. MEDGEN:82771 XO deficiency xanthinuria, type 1 DOID:0070452 xanthinuria type I MESH:C562584 Orphanet:93601 xanthine oxidase deficiency OMIM:278300 xanthinuria, type I type 1 xanthinuria hereditary xanthinuria obsolete_xanthinuria type I