Term Name: | preaxial polydactyly II |
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Synonyms: | polydactyly of a triphalangeal thumb |
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. |
Ontology: | Human Disease [DOID:0060986] ( DOID:0060986 ) |