Link to this page
Computer Retrieval of Information on Scientific Projects Thesaurus
Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-7175
http://purl.bioontology.org/ontology/CSP/1849-7175
|
|---|---|
| Preferred Name | osteogenesis imperfecta |
| Definitions |
autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation.
|
| Synonyms |
brittle bone disease
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal dominant collagen disease resulting from defective biosynthesis of collagen type I and characterized by brittle, osteoporotic, and easily fractured bones; may also present with blue sclerae, loose joints, and imperfect dentin formation. |
|---|---|
| altLabel | brittle bone disease
|
| prefLabel | osteogenesis imperfecta
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-7175
|
| Semantic type UMLS property | |
| DID | 1849-7175
|
| cui | C0029434
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |