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Van der Woude Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C74986

A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities. [ ]

Term info

Label

Van der Woude Syndrome

Synonyms
  • Van Der Woude Syndrome
  • Van der Woude Syndrome
Subsets

NCIT_C90259, NCIT_C99147

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101

Legacy Concept Name

Van_der_Woude_Syndrome

NICHD Hierarchy Term

Van Der Woude Syndrome

Preferred Name

Van der Woude Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0175697

code

C74986