| Metadata | |
|---|---|
| ID | DOID:0050331 |
| Name | lacrimoauriculodentodigital 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. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome |
| Xrefs | |
| Synonyms |
Lacrimo-auriculo-dento-digital syndrome 1 [EXACT] LEVY-HOLLISTER SYNDROME [EXACT] |
| Parent Relationships |
is_a LADD syndrome |