| Metadata | |
|---|---|
| ID | DOID:0110972 |
| Name | brachydactyly type E1 |
| Definition | A 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. https://www.ncbi.nlm.nih.gov/pubmed/12649808, https://www.ncbi.nlm.nih.gov/pubmed/8933344 |
| Xrefs | |
| Synonyms |
BDE1 [EXACT] |
| Parent Relationships |
is_a brachydactyly |