FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term preaxial polydactyly I ID (Ontology) DOID:0060987 (Human Disease)
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.
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 Genes
 preaxial polydactyly I       1
 for disease ribbon | preaxial polydactyly I       1
 model of | preaxial polydactyly I       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
physical disorder                |
 |__polydactyly__________________|
                                 preaxial polydactyly I  1 rec.
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Is a autosomal recessive disease
polydactyly
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GARD:4417
MIM:174400
ORDO:93339