brachydactyly type E1 (Q32145461)
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brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has material basis in heterozygous mutation in the HOXD13 gene on chromosome 2q31
- BDE1
- Brachydactyly, Type E
- BRACHYDACTYLY, TYPE E1
- BRACHYDACTYLY, TYPE E1; BDE1
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | brachydactyly type E1 |
brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has material basis in heterozygous mutation in the HOXD13 gene on chromosome 2q31 |
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Statements
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Identifiers
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