osteogenesis imperfecta type 1 (Q27677735)
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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.
- OI1
- osteogenesis imperfecta type I
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | osteogenesis imperfecta type 1 |
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. |
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C99003
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