lacrimoauriculodentodigital syndrome 1

Summary

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: lacrimoauriculodentodigital syndrome, Lacrimo-auriculo-dento-digital syndrome 1, LEVY-HOLLISTER SYNDROME

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fgfr3, fgf10, fgfr2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007872 - LADD syndrome

MONDO:0007872 - LADD syndrome

MIM:

MIM:149730 - LACRIMOAURICULODENTODIGITAL SYNDROME 1; LADD1

MIM:149730 - LACRIMOAURICULODENTODIGITAL SYNDROME 1; LADD1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), LADD syndrome (is_a), syndrome (is_a)