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OSTEOGENESIS IMPERFECTA
Pronunciation (US): | (GB): |
I. (noun)
Sense 1
Meaning:
Autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily
Classified under:
Nouns denoting stable states of affairs
Hypernyms ("osteogenesis imperfecta" is a kind of...):
autosomal dominant disease; autosomal dominant disorder (a disease caused by a dominant mutant gene on an autosome)
Context examples:
Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome.
(Collagen I (Alpha 2), NCI Thesaurus/LocusLink)
A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.
(Osteogenesis Imperfecta Type III, NCI Thesaurus)