Genetic disorders of collagen.
Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.
D003094:Collagen / Q000235:genetics*; D003095:Collagen Diseases / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000503:physiopathology; D005796:Genes; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics / Q000503:physiopathology; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000503:physiopathology
D003094:Collagen