Search Ontology:
Human Disease
lacrimoauriculodentodigital syndrome 1
- Term ID
- DOID:0050331
- Synonyms
-
- Lacrimo-auriculo-dento-digital syndrome 1
- lacrimoauriculodentodigital syndrome
- LEVY-HOLLISTER SYNDROME
- 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. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome
- References
- Ontology
- Human Disease ( DOID:0050331 )
- is a type of
-
Show first 5 Terms
Other Pages
Genes Involved
Zebrafish Models