Cystine storage disease with aminoaciduria and dwarfism; Lignac-Fanconi disease.
D000592:Amino Acid Metabolism, Inborn Errors; D000596:Amino Acids / Q000652:urine*; D003553:Cystine / Q000378:metabolism*; D003554:Cystinosis; D004392:Dwarfism; D005198:Fanconi Syndrome; D008659:Metabolic Diseases; D014556:Urine
D000596:Amino Acids; D003553:Cystine
AMINO ACIDS/in urine; CYSTINE/metabolism; DWARFISM; METABOLIC DISEASES; URINE