Lacrimoauriculodentodigital Syndrome 2
Disease ID: disease_node_20094
Connections displayed (default: 10).
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| Dbxref | MIM:620192 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081370 |
| Data Source | DOID |
| Synonyms | Lacrimo-auriculo-dento-digital syndrome 2 |
| Doid Label | lacrimoauriculodentodigital syndrome 2 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20094 |
| Doid Id | DOID_0081371 |
| Label | Lacrimoauriculodentodigital Syndrome 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ladd Syndrome(ID:disease_node_20093) (Disease)