Term Name: preaxial polydactyly I
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 )

Relationships
is a type of: autosomal recessive disease polydactyly