A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D000596:Amino Acids / Q000032:analysis; D001842:Bone and Bones / Q000032:analysis; D002356:Cartilage / Q000032:analysis; D002648:Child; D003094:Collagen / Q000032:analysis / Q000378:metabolism; D003095:Collagen Diseases / Q000235:genetics* / Q000378:metabolism; D005205:Fascia / Q000032:analysis; D005260:Female; D006801:Humans; D006900:Hydroxylation; D006901:Hydroxylysine / Q000032:analysis / Q000652:urine; D006909:Hydroxyproline / Q000652:urine; D008239:Lysine; D008854:Microscopy, Electron; D010375:Pedigree; D012600:Scoliosis / Q000235:genetics; D012867:Skin / Q000032:analysis / Q000473:pathology; D012871:Skin Diseases / Q000235:genetics; D012995:Solubility; D014961:X-Ray Diffraction
D000596:Amino Acids; D006901:Hydroxylysine; D003094:Collagen; D008239:Lysine; D006909:Hydroxyproline