A skeletal and connective tissue disorder associated with lysyl oxidase deficiency and abnormal copper metabolism.
D000328:Adult; D000594:Amino Acid Oxidoreductases / Q000172:deficiency*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D003240:Connective Tissue Diseases / Q000235:genetics*; D003300:Copper / Q000378:metabolism*; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007593:Joint Instability / Q000235:genetics; D008297:Male; D008664:Metal Metabolism, Inborn Errors / Q000235:genetics*; D009777:Occipital Bone / Q000002:abnormalities; D008249:Protein-Lysine 6-Oxidase / Q000172:deficiency*; D013577:Syndrome
D003300:Copper; D000594:Amino Acid Oxidoreductases; D008249:Protein-Lysine 6-Oxidase