| Metadata | |
|---|---|
| ID | DOID:0050689 |
| Name | brachydactyly-syndactyly syndrome |
| Definition | A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/17236141, https://www.omim.org/entry/610713 |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |