autosomal dominant disease
Noun
-
A disease caused by a dominant mutant gene on an autosome (synset 114185507)
is a type of: congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited geneticallysubtypes:
- huntington's chorea, huntington's disease - hereditary disease; develops in adulthood and ends in dementia
- malignant hyperthermia - hereditary condition in which certain anesthetics (e.g., halothane) cause high body temperatures and muscle rigidity
- marfan's syndrome - an autosomal dominant disease characterized by elongated bones (especially of limbs and digits) and abnormalities of the eyes and circulatory system
- neurofibromatosis, 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
same as: autosomal dominant disorder
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