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MIRAGE
lacrimoauriculodentodigital syndrome 2
Summary
- Synonym
-
- Lacrimo-auriculo-dento-digital syndrome 2
- Definition
- A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.
- Super Class
- LADD syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081371
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22607 | Fibroblast growth factor receptor 3 |
