ADULT syndrome
A syndrome 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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
ADULT syndrome
- acro-dermato-ungual-lacrimal-tooth syndrome
OMIM mapping confirmed by DO. [SN].
disease_ontology
DOID:0050601