Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency.
D000293:Adolescent; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications*; D000795:Fabry Disease / Q000201:enzymology* / Q000473:pathology; D005347:Fibroblasts; D005696:Galactosidases / Q000378:metabolism; D005808:Genes, Recessive; D006017:Glycolipids / Q000378:metabolism; D006026:Glycoside Hydrolases / Q000378:metabolism*; D006644:Histiocytes; D006801:Humans; D007633:Keratins; D008052:Lipid Metabolism, Inborn Errors; D008247:Lysosomes; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D012867:Skin / Q000473:pathology
D006017:Glycolipids; D007633:Keratins; D005696:Galactosidases; D006026:Glycoside Hydrolases