Jump to:
loading...| Preferred Name |
Osteogenesis Imperfecta [Disease/Finding] |
|
| Synonyms |
Brittle Bone Disease Fragilitas Ossium Osteogenesis Imperfecta |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002250 |
|
| altLabel |
Brittle Bone Disease Fragilitas Ossium Osteogenesis Imperfecta |
|
| cui |
C0029434 |
|
| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000154386 http://purl.bioontology.org/ontology/NDFRT/N0000022460 |
|
| 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 name |
Osteogenesis Imperfecta |
|
| MESH UI |
M0015534 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002250 |
|
| NUI |
N0000002250 |
|
| prefLabel |
Osteogenesis Imperfecta [Disease/Finding] |
|
| SNOMED CID |
78314001 |
|
| tui |
T047 T019 |
|
| subClassOf |
Create mapping