Metadata | |
---|---|
ID | DOID:0060987 |
Name | preaxial polydactyly I |
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. https://pubmed.ncbi.nlm.nih.gov/15405667/ |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a autosomal recessive disease is_a polydactyly |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |