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Metadata
ID DOID:0050331
Name lacrimoauriculodentodigital syndrome 1
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
Xrefs

OMIM:149730

Synonyms

Lacrimo-auriculo-dento-digital syndrome 1 [EXACT]

lacrimoauriculodentodigital syndrome [EXACT]

LEVY-HOLLISTER SYNDROME [EXACT]

Parent Relationships

is_a LADD syndrome

is_a autosomal dominant disease

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