Matches in DBpedia 2016-04 for { ?s ?p "Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital bone disorder characterized by brittle bones that are prone to fracture. OI may also present with shorter height, neurological features including communicating hydrocephalus, basilar invagination, and seizures, blue sclerae, hearing loss, or other complications. The fractures themselves can cause acute or chronic pain, reduced quality of life, and depression.People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen. Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes, both of which code for type I collagen. Diagnosis of OI is based on the clinical features and may be confirmed by collagen or DNA testing.There is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility. Treatment includes bisphosphonates, surgery, physical therapy, and physical aids.OI occurs in about one per 20,000 live births. The frequency of OI doesn't change across groups, but certain types are more common in certain groups."@en }
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- Osteogenesis_imperfecta abstract "Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital bone disorder characterized by brittle bones that are prone to fracture. OI may also present with shorter height, neurological features including communicating hydrocephalus, basilar invagination, and seizures, blue sclerae, hearing loss, or other complications. The fractures themselves can cause acute or chronic pain, reduced quality of life, and depression.People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen. Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes, both of which code for type I collagen. Diagnosis of OI is based on the clinical features and may be confirmed by collagen or DNA testing.There is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility. Treatment includes bisphosphonates, surgery, physical therapy, and physical aids.OI occurs in about one per 20,000 live births. The frequency of OI doesn't change across groups, but certain types are more common in certain groups.".
- Q749409 abstract "Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital bone disorder characterized by brittle bones that are prone to fracture. OI may also present with shorter height, neurological features including communicating hydrocephalus, basilar invagination, and seizures, blue sclerae, hearing loss, or other complications. The fractures themselves can cause acute or chronic pain, reduced quality of life, and depression.People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen. Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes, both of which code for type I collagen. Diagnosis of OI is based on the clinical features and may be confirmed by collagen or DNA testing.There is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility. Treatment includes bisphosphonates, surgery, physical therapy, and physical aids.OI occurs in about one per 20,000 live births. The frequency of OI doesn't change across groups, but certain types are more common in certain groups.".