[autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation. ( CSP )]
UMLS (CSP) C0029434 - Congenital Abnormality
- Disease or Syndrome
Relation/PAR: bone development disorder
Collagen Diseases
Genetic Condition
Osteochondrodysplasias
congenital skeletal disorder
Vascular Hemostatic Disorders