Corneal dystrophy and total adenine phosphoribosyltransferase (APRT) deficiency.
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics
D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase