About: Van der Woude Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Van der Woude Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Van der Woude Syndrome
UMLS_CUI
  • C0175697
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Van_der_Woude_Syndrome
FULL_SYN
  • Van der Woude SyndromePTNCI
  • Van Der Woude SyndromePTNICHD
DEFINITION
  • 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.NCI
code
  • C74986
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