Term Name: | preaxial polydactyly I |
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Synonyms: | |
Definition: | A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. |
Ontology: | Human Disease [DOID:0060987] ( DOID:0060987 ) |