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lacrimoauriculodentodigital syndrome 1
Summary
- Synonym
-
- LEVY-HOLLISTER SYNDROME
- Lacrimo-auriculo-dento-digital syndrome 1
- Definition
- A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes.
- Super Class
- LADD syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0050331
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21802 | Fibroblast growth factor receptor 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35565 | Fibroblast growth factor 10 |
