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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608864
http://purl.bioontology.org/ontology/OMIM/608864
|
|---|---|
| Preferred Name | OROFACIAL CLEFT 6, SUSCEPTIBILITY TO |
| Synonyms |
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6
OFC6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6
OFC6
|
|---|---|
| prefLabel | OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
| Gene Symbol |
PIT
VWS1
OFC6
IRF6
LPS
PPS1
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|
| Scope Statement | Genetic heterogeneity (see OFC1, 119530) [MISCELLANEOUS]
Allelic disorder to van der Woude syndrome (VWS, 119300) and popliteal pterygium syndrome (PPS, 119500) [MISCELLANEOUS]
Susceptibility conferred by mutation in the interferon regulatory factor 6 gene (IRF6, 607199.0013) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T033
|
| Gene Locus | 1q32-q41
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 608864
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1837213
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |