Details of Disease

General Information of Disease (ID: DIS7LR56)

Disease Name Congenital heart malformation
Synonyms congenital non-syndromic heart malformation; rare congenital non-syndromic heart malformation; heart development disease; congenital heart malformation; disorder of heart development
Definition A disease that has its basis in the disruption of heart development.
Disease Hierarchy
DISVJUAP: Congenital anomaly of cardiovascular system
DISWD40R: Disease
DIS7LR56: Congenital heart malformation
Disease Identifiers
MONDO ID
MONDO_0019512
UMLS CUI
C3649636
MedGen ID
1680993
Orphanet ID
88991

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
FOXH1 OTEXJ9SL Limited Unknown [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.