| Metadata | |
|---|---|
| ID | DOID:0110341 |
| Name | osteogenesis imperfecta type 2 |
| Definition | An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality 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/3722184, https://www.ncbi.nlm.nih.gov/pubmed/6304100 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
OI2 [EXACT] osteogenesis imperfecta type II [EXACT] perinatal lethal osteogenesis imperfecta congenita [EXACT] Vrolik type of osteogenesis imperfecta [EXACT] |
| Parent Relationships |