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Metadata
ID DOID:0081372
Name lacrimoauriculodentodigital syndrome 3
Definition A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12.
https://pubmed.ncbi.nlm.nih.gov/16630169/
Xrefs

MIM:620193

Synonyms

Lacrimo-auriculo-dento-digital syndrome 3 [EXACT]

Parent Relationships

is_a LADD syndrome

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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