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Repository for lectin-assisted multimodality data
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MIRAGE
preaxial polydactyly I
Summary
- 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.
- Super Class
- autosomal recessive disease polydactyly
External Links
- Disease Ontology
- DOID:0060987
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08151 | Zinc finger protein GLI1 |
