Search Ontology:
Human Disease

preaxial polydactyly I

Term ID
DOID:0060987
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. https://pubmed.ncbi.nlm.nih.gov/15405667/
References
Ontology
Human Disease   ( DOID:0060987 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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