Details of Disease

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.