Terminology Service for NFDI4Health

ADULT syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050601


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

Label

ADULT syndrome

Synonyms
  • acro-dermato-ungual-lacrimal-tooth syndrome
database cross reference
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050601