Disease-gene associations mined from literature

Human genes for triple-A syndrome

triple-A syndrome [DOID:0050602]

An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63.

Synonyms:  triple-A syndrome,  DOID:0050602,  tripleA syndrome,  triple-A disease,  triple-A disorder ...

Linkouts:  OMIM