|
DOID:0050331 - lacrimoauriculodentodigital syndrome 1
Disease Ontology 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.
Synonyms: LEVY-HOLLISTER SYNDROME, Lacrimo-auriculo-dento-digital syndrome 1, lacrimoauriculodentodigital syndrome,
Xenbase Genes : fgfr3, fgf10, fgfr2
MONDO:0007872 - LADD syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee