Lacrimoauriculodentodigital Syndrome 1
Disease ID: disease_node_20095
Connections displayed (default: 10).
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| Dbxref | MIM:149730 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081370 |
| Data Source | DOID |
| Synonyms | LEVY-HOLLISTER SYNDROME, Lacrimo-auriculo-dento-digital syndrome 1 |
| Doid Label | lacrimoauriculodentodigital syndrome 1 |
| Doid Description | 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 domit inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20095 |
| Doid Id | DOID_0050331 |
| Label | Lacrimoauriculodentodigital Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Ladd Syndrome(ID:disease_node_20093) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)