congenital heart disease

Summary
Synonym
  • Congenital Heart Defects
  • Congenital anomaly of heart
  • Heart Malformation
  • congenital heart defect
  • heart defect
Definition
A heart disease that is characterized by problems with the heart's structure that are present at birth.
Super Class
heart disease physical disorder
Disease Ontology
DOID:1682
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 17 in total
Gene ID Gene Symbol Description Source
182 JAG1 jagged canonical Notch ligand 1
2626 GATA4 GATA binding protein 4
2657 GDF1 growth differentiation factor 1
2878 GPX3 glutathione peroxidase 3
4625 MYH7 myosin heavy chain 7
4772 NFATC1 nuclear factor of activated T cells 1
4851 NOTCH1 notch receptor 1
5981 RFC1 replication factor C subunit 1
6671 SP4 Sp4 transcription factor
6997 CRIPTO cripto, EGF-CFC family member
Displaying all 2 entries
Gene ID Gene Symbol Description Source
20181 Rxra retinoid X receptor alpha
269003 Sap130 Sin3A associated protein
Displaying all 4 entries
Gene ID Gene Symbol Description Source
33185 kis kismet
41737 trx trithorax
43788 Hcf Host cell factor
43827 apolpp apolipophorin
Displaying 1 entry
Gene ID Gene Symbol Description Source
553365 gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025