osteogenesis imperfecta type 3 (Q27677738)
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An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has material basis in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
- OI3
- osteogenesis imperfecta type III
- progressively deforming osteogenesis imperfecta with normal sclera
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | osteogenesis imperfecta type 3 |
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has material basis in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
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C99002
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