Preferred Name |
Van der Woude syndrome |
|
Synonyms |
Lip pit syndrome |
|
ID |
http://purl.bioontology.org/ontology/MESH/C536528 |
|
altLabel |
Lip pit syndrome Cleft lip and-or palate with mucous cysts of lower lip Lip-Pit Syndrome |
|
cui |
C0175697 |
|
Has mapping qualifier | ||
HM |
D000015 D003560 D002971 D002972 D008046/Q000002 |
|
Inverse of RB |
0 |
|
Mapped to |
http://purl.bioontology.org/ontology/MESH/D000015 http://purl.bioontology.org/ontology/MESH/D003560 http://purl.bioontology.org/ontology/MESH/D008046 |
|
MDA |
20100825 |
|
MeSH Frequency |
114 |
|
MMR |
20151112 |
|
notation |
C536528 |
|
prefLabel |
Van der Woude syndrome |
|
SC |
3 |
|
Scope Statement |
An autosomal dominant hereditary developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Mutations in the IRF6 gene have been identified. OMIM: 119300 |
|
TERMUI |
T800638 T000889012 T739616 T739619 |
|
TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
tui |
T047 |
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