| Metadata | |
|---|---|
| ID | DOID:0081371 |
| Name | lacrimoauriculodentodigital 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. https://pubmed.ncbi.nlm.nih.gov/16501574/ |
| Xrefs | |
| Synonyms |
Lacrimo-auriculo-dento-digital syndrome 2 [EXACT] |
| Parent Relationships |
is_a LADD syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |