loading...| Preferred Name |
Osteogenesis Imperfecta |
| Synonyms |
Brittle bone disease |
| Definitions |
<p>Osteogenesis imperfecta (OI) is a genetic disorder in which bones <a href="https://medlineplus.gov/fractures.html">fracture</a> (break) easily. Sometimes the fractures happen 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>There is no specific test for 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 class="">NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases</p> |
| ID |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434 |
| altLabel |
Brittle bone disease OI |
| cui |
C0029434 |
| Date created |
11/17/1999 |
| definition |
Osteogenesis imperfecta (OI) is a genetic disorder in which bones fracture (break) easily. Sometimes the fractures happen 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. There is no specific test for 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 |
| Inverse of SY | |
| Mapped from | |
| Mapped to | |
| 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 |
Osteogenesis Imperfecta |
| Related to |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247 |
| Scope Statement |
Osteogenesis imperfecta (OI) is a genetic disorder in which bones break easily. Find out diagnosis, treatments, and living with OI.https://medlineplus.gov/osteogenesisimperfecta.html |
| tui |
T047 |
| subClassOf |