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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002250
http://purl.bioontology.org/ontology/NDFRT/N0000002250
|
|---|---|
| Preferred Name | Osteogenesis Imperfecta [Disease/Finding] |
| Synonyms |
Brittle Bone Disease
Fragilitas Ossium
Osteogenesis Imperfecta
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Brittle Bone Disease
Fragilitas Ossium
Osteogenesis Imperfecta
|
|---|---|
| prefLabel |
Osteogenesis Imperfecta [Disease/Finding]
|
| notation |
N0000002250
|
| May be treated by | |
| MESH DEFINITION |
COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
|
| MESH UI |
M0015534
|
| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
Osteogenesis Imperfecta
|
| NDFRT kind |
DISEASE_KIND
|
| type | |
| SNOMED CID |
78314001
|
| tui |
T047
T019
|
| NUI |
N0000002250
|
| cui |
C0029434
|
| MESH DUI |
D010013
|
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