Details of Disease

General Information of Disease (ID: DISRV5T3)

Disease Name Congenital heart defects, multiple types, 8, with or without heterotaxy
Disease Hierarchy
DISWZRYW: Congenital heart defects, multiple types
DISRV5T3: Congenital heart defects, multiple types, 8, with or without heterotaxy
Disease Identifiers
MONDO ID
MONDO_0859213
UMLS CUI
C5562042
OMIM ID
619657
MedGen ID
1794252

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
SMAD2 OTC6VB4K Limited Autosomal dominant [1]
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References

1 Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet. 2008 Jul;83(1):18-29. doi: 10.1016/j.ajhg.2008.05.012. Epub 2008 Jun 5.