MedlinePlus Health Topics

Last uploaded: August 27, 2019
Preferred Name

OI

Synonyms

Brittle bone disease

Definitions

<p>Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong. </p> <p>OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.</p> <p>No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. </p> <p >NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434

altLabel

Brittle bone disease

Osteogenesis Imperfecta

cui

C0029434

Date created

11/17/1999

definition

Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Sometimes the bones break for no known reason. OI can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. OI is caused by one of several genes that aren't working properly. When these genes don't work, it affects how you make collagen, a protein that helps make bones strong.

OI can range from mild to severe, and symptoms vary from person to person. A person may have just a few or as many as several hundred fractures in a lifetime.

No single test can identify OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms. Treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery.

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

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Inverse of SY

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434

MP HEALTH TOPIC URL

https://medlineplus.gov/osteogenesisimperfecta.html

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/osteogenesisimperfecta.html

MP PRIMARY INSTITUTE URL

National Institute of Arthritis and Musculoskeletal and Skin Diseases http://www.niams.nih.gov/

notation

C0029434

prefLabel

OI

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0005940

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0009782

Scope Statement

Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Find out diagnosis, treatments, and living with OI.

tui

T019

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456595

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