| Metadata | |
|---|---|
| ID | DOID:0110334 |
| Name | osteogenesis imperfecta type 1 |
| Definition | An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. https://www.ncbi.nlm.nih.gov/pubmed/2873381 |
| Xrefs |
SNOMEDCT_US_2023_03_01:3508009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
OI1 [EXACT] osteogenesis imperfecta type I [EXACT] |
| Parent Relationships |