| Metadata | |
|---|---|
| ID | DOID:0110971 |
| Name | brachydactyly type D |
| Definition | A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/12649808 |
| Xrefs | |
| Synonyms |
BDD [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a brachydactyly |
| Subclass Logical Relationships |
disease has location some (thumb and big toe) has material basis in some autosomal dominant inheritance |