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loading...| Preferred Name |
VAN DER WOUDE SYNDROME 1 |
|
| Synonyms |
PIT |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/119300 |
|
| altLabel |
PIT LPS VDWS LIP-PIT SYNDROME CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP VWS1 |
|
| cui |
C0175697 C4551864 |
|
| Gene Locus |
1q32-q41 |
|
| Gene Symbol |
PIT VWS1 OFC6 IRF6 LPS PPS1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU002570 http://purl.bioontology.org/ontology/OMIM/MTHU009613 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
119300 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
VAN DER WOUDE SYNDROME 1 |
|
| Scope Statement |
Caused by mutation in the interferon regulatory factor 6 gene (IRF6, 607199.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |
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