Details of Disease

General Information of Disease (ID: DISRXKC7)

Disease Name Orofacial cleft 15
Synonyms OFC15; DLX4 cleft lip/palate; orofacial cleft type 15; orofacial cleft 15; cleft lip/palate caused by mutation in DLX4
Definition Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene.
Disease Hierarchy
DIS14IG3: Cleft lip/palate
DISRXKC7: Orofacial cleft 15
Disease Identifiers
MONDO ID
MONDO_0014772
UMLS CUI
C4225209
OMIM ID
616788
MedGen ID
909661

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DLX4 OTLWVCN4 Limited Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 DLX4 is associated with orofacial clefting and abnormal jaw development. Hum Mol Genet. 2015 Aug 1;24(15):4340-52. doi: 10.1093/hmg/ddv167. Epub 2015 May 7.