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DO Term : lacrimoauriculodentodigital syndrome 2 [DOID:0081371] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.

synonyms:
620192,
OMIM:620192,
Lacrimo-auriculo-dento-digital syndrome 2

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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