| Metadata | |
|---|---|
| ID | DOID:12347 |
| Name | osteogenesis imperfecta |
| Definition | An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. http://orthoinfo.aaos.org/topic.cfm?topic=a00051, http://osteogenesisimperfecta.org/, http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/, http://en.wikipedia.org/wiki/Osteogenesis_imperfecta, http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm |
| Xrefs |
SNOMEDCT_US_2023_03_01:254109004 |
| Alternateids |
DOID:14708 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
brittle bone disease [EXACT] Fragilitas ossium [RELATED] Lobstein's syndrome [EXACT] Osteopsathyrosis [EXACT] Vrolik's disease [EXACT] |
| Parent Relationships |