| / English Dictionary |
AUTOSOMAL DOMINANT DISORDER
| Pronunciation (US): |  | (GB): | |
I. (noun)
Sense 1
Meaning:
A disease caused by a dominant mutant gene on an autosome
Synonyms:
autosomal dominant disease; autosomal dominant disorder
Classified under:
Nouns denoting stable states of affairs
Hypernyms ("autosomal dominant disorder" is a kind 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 genetically)
Hyponyms (each of the following is a kind of "autosomal dominant disorder"):
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)
Context examples:
An autosomal dominant disorder defined by the presence of multiple dysplastic nevi and a history of melanoma in two family members.
(Dysplastic Nevus Syndrome, NCI Thesaurus)
A rare autosomal dominant disorder caused by mutations in the DMPK gene.
(Dystrophia Myotonica 1, NCI Thesaurus)
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism.
(Achondroplasia, NLM, Medical Subject Headings)
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