ADULT syndrome

Summary

DOID:0050601 - ADULT syndrome

Disease Ontology Definition: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.

Synonyms: acro-dermato-ungual-lacrimal-tooth syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tp63

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007072 - ADULT syndrome

MONDO:0007072 - ADULT syndrome

OMIM:

OMIM:103285 - ADULT SYNDROME

OMIM:103285 - ADULT SYNDROME

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), syndrome (is_a)