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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| 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]
|
| 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 DUI | D010013
|
| MESH UI | M0015534
|
| MeSH name | Osteogenesis Imperfecta
|
| type | |
| tui |
T047
T019
|
| SNOMED CID | 78314001
|
| May be treated by | |
| notation | N0000002250
|
| Semantic type UMLS property | |
| NUI | N0000002250
|
| cui | C0029434
|
| NDFRT kind | DISEASE_KIND
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |