Search Ontology:
Human Disease
preaxial polydactyly I
- Term ID
- DOID:0060987
- Synonyms
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- 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
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- GARD:4417
- MIM:174400
- ORDO:93339
- Ontology
- Human Disease ( DOID:0060987 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models