brachydactyly type B1 (Q32145418)
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brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22
- BDB1
- BRACHYDACTYLY, TYPE B1
- BRACHYDACTYLY, TYPE B1; BDB1
- Brachydactyly, Type B
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | brachydactyly type B1 |
brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22 |
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