Details of Disease | DrugMAP

General Information of Disease (ID: DISLT8VU)

Disease Name	Orofaciodigital syndrome 18
Synonyms	OFD18; oral-Facial-digital syndrome, type 18; Ofds 18; orofaciodigital syndrome XVIII
Disease Hierarchy	DISSB296: Orofaciodigital syndrome DISLT8VU: Orofaciodigital syndrome 18
Disease Identifiers	MONDO ID MONDO_0054770 UMLS CUI C5567903 OMIM ID 617927 MedGen ID 1799326 SNOMED CT ID 1177179002

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
IFT57	OTXYC20V	Limited	Unknown	[1]
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References

1	Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. Int J Cardiol. 2016 Feb 1;204:115-21. doi: 10.1016/j.ijcard.2015.11.127. Epub 2015 Nov 22.