Definition that contains autosomal
- neurofibromatosis autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
- werdnig-hoffman disease autosomal recessive disease in which the degeneration of spinal nerve cells and brain nerve cells leads to atrophy of skeletal muscles and flaccid paralysis; death usually occurs in early childhood
- von recklinghausen's disease autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
- osteogenesis imperfecta autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
- tyrosinemia autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation