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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

GARD:4417

MIM:174400

ORDO:93339

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

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