Orofacial cleft 6, susceptibility to

Preferred Label : Orofacial cleft 6, susceptibility to;

Symbol : OFC6;

CISMeF acronym : OFC6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cleft lip with or without cleft palate, nonsyndromic, 6;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the interferon regulatory factor 6 gene (IRF6, 607199.0013);

Prefixed ID : #608864;

Details

Origin ID

608864;

UMLS CUI

C1837213;

Automatic exact mappings (from CISMeF team)
- interferon regulatory factor 6 [ORDO Gene]
- interferon regulatory factor 6 [HGNC gene]
DO Cross reference
- orofacial cleft 6 [DO Concept]
Genes related to phenotype
- Interferon regulatory factor 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Heterogeneous [HPO term]
- Isolated cases [HPO term]
- Polygenic inheritance [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Cleft lip/palate [ORDO Disease]
See also inter- (CISMeF)
- IRF6 wt Allele [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Cleft lip with or without cleft palate [ORDO Disease]

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