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Metadata
ID DOID:0050601
Name ADULT syndrome
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.
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30900/pdf
Xrefs

GARD:384

OMIM:103285

Synonyms

acro-dermato-ungual-lacrimal-tooth syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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