OSTEOGENESIS IMPERFECTA

Pronunciation (US):

(GB):

 Dictionary entry overview: What does osteogenesis imperfecta mean? 

• OSTEOGENESIS IMPERFECTA (noun)
  The noun OSTEOGENESIS IMPERFECTA has 1 sense:

1. autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily

  Familiarity information: OSTEOGENESIS IMPERFECTA used as a noun is very rare.

 Dictionary entry details 

• OSTEOGENESIS IMPERFECTA (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 

Others, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta, are genetic.

(Connective Tissue Disorders, NIH)

Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily.

(Osteogenesis Imperfecta, NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases)

The mildest and most common type of osteogenesis imperfecta.

(Osteogenesis Imperfecta Type I, NCI Thesaurus)

A severe form of osteogenesis imperfecta.

(Osteogenesis Imperfecta Type II, NCI Thesaurus)

It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis.

(COL1A1 Associated Connective Tissue Disorder, NCI Thesaurus)

Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, and idiopathic osteoporosis.

(Collagen I (Alpha 1), NCI Thesaurus/LocusLink)

This gene plays an important structural role in cartilage and mutations in the gene are associated with osteogenesis imperfecta.

(COL1A1 Gene, NCI Thesaurus)

Mutations in the gene are associated with both Ehlers-Danlos syndrome and osteogenesis imperfecta types.

(COL1A1 wt Allele, NCI Thesaurus)

Mutations in the gene are associated with atypical Marfan syndrome, Ehlers-Danlos syndrome types and osteogenesis imperfecta types.

(COL1A2 wt Allele, NCI Thesaurus)

A type of osteogenesis imperfecta that is characterized by fractures and hearing loss.

(Osteogenesis Imperfecta Type IV, NCI Thesaurus)