ZFIN Human Disease: lacrimoauriculodentodigital syndrome 1

OBO ID: DOID:0050331

Term Name:	lacrimoauriculodentodigital syndrome 1		Search Ontology:
Synonyms:	Lacrimo-auriculo-dento-digital syndrome 1 lacrimoauriculodentodigital syndrome LEVY-HOLLISTER SYNDROME
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. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome
References:	OMIM:149730
Ontology:	Human Disease ( DOID:0050331 )

Relationships

is a type of:	autosomal dominant disease LADD syndrome autosomal dominant disease LADD syndrome Show first 5 Terms

OTHER lacrimoauriculodentodigital syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FGFR2	fgfr2	LADD syndrome 1	149730

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None