Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.
D000217:Acyltransferases / Q000172:deficiency*; D002806:Chondrodysplasia Punctata / Q000175:diagnosis / Q000378:metabolism*; D005260:Female; D006801:Humans; D008830:Microbodies / Q000201:enzymology / Q000378:metabolism*; D010955:Plasmalogens / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome
D010955:Plasmalogens; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase