Details of Disease

General Information of Disease (ID: DISVJUAP)

Disease Name Congenital anomaly of cardiovascular system
Synonyms
congenital cardiovascular disorder; congenital anomaly of cardiovascular system; congenital cardiovascular anomaly; cardiovascular system development disease; congenital Abnormality of the circulatory system; disorder of cardiovascular system development; congenital cardiovascular Abnormality
Definition A disease that has its basis in the disruption of cardiovascular system development.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISWD40R: Disease
DIS2IQDX: Cardiovascular disease
DISVJUAP: Congenital anomaly of cardiovascular system
Disease Identifiers
MONDO ID
MONDO_0024239
UMLS CUI
C3665496
MedGen ID
777113
SNOMED CT ID
762228008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SMAD6 TTON5JB Definitive Genetic Variation [1]
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References

1 Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat. 2012 Apr;33(4):720-7. doi: 10.1002/humu.22030. Epub 2012 Feb 14.