| Metadata | |
|---|---|
| ID | DOID:0060986 |
| Name | preaxial polydactyly II |
| Definition | A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. https://pubmed.ncbi.nlm.nih.gov/8012392/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
polydactyly of a triphalangeal thumb [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a polydactyly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |