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loading...| Preferred Name |
Van der Woude Syndrome |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C74986 |
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| code |
C74986 |
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| Contributing_Source |
NICHD |
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| 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. |
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| in_subset | ||
| label |
Van der Woude Syndrome |
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| Legacy Concept Name |
Van_der_Woude_Syndrome |
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| Preferred_Name |
Van der Woude Syndrome |
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| prefixIRI |
NCIT:C74986 |
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| prefLabel |
Van der Woude Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0175697 |
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| subClassOf |
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