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Human Disease

lacrimoauriculodentodigital syndrome 1

Term ID
DOID:0050331
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
Ontology
Human Disease   ( DOID:0050331 )
Relationships
is a type of
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Genes Involved
Zebrafish Models