congenital heart disease
MONDO:0005453Mondo
Findings
No curated finding names congenital heart disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.
Definition from the Mondo Disease Ontology (MONDO:0005453), read 2026-09-29. CC BY 4.0.
Genes
91 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ISL1HGNC:6132
- Definitive · ClinGen · Autosomal dominant · 2024
- SMAD2HGNC:6768
- Definitive · ClinGen · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- TBX20HGNC:11598
- Definitive · ClinGen · Autosomal dominant · 2026
- NKX2-6HGNC:32940
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024
- RBFOX2HGNC:9906
- Strong · ClinGen · Autosomal dominant · 2024
- CITED2HGNC:1987
- Moderate · ClinGen · Autosomal dominant · 2023
- ETS1HGNC:3488
- Moderate · ClinGen · Autosomal dominant · 2026
- FGF8HGNC:3686
- Moderate · ClinGen · Autosomal dominant · 2024
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- FOXH1HGNC:3814
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2024
- HAND1HGNC:4807
- Moderate · ClinGen · Autosomal dominant · 2023
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- HAND2HGNC:4808
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- KLF13HGNC:13672
- Moderate · ClinGen · Autosomal dominant · 2024
- MESP1HGNC:29658
- Moderate · ClinGen · Autosomal dominant · 2024
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- PRKD1HGNC:9407
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2024
- Limited · ClinGen · Autosomal dominant · 2024
- ROCK2HGNC:10252
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2024
- ACVR1HGNC:171
- Limited · ClinGen · Autosomal dominant · 2023
- ADAM17HGNC:195
- Limited · ClinGen · Autosomal dominant · 2023
- ADAMTS19HGNC:17111
- Limited · ClinGen · Autosomal recessive · 2024
- ANKRD1HGNC:15819
- Limited · ClinGen · Autosomal dominant · 2024
- BCL9HGNC:1008
- Limited · ClinGen · Autosomal dominant · 2023
- BMP10HGNC:20869
- Limited · ClinGen · Autosomal dominant · 2023
- BMPR2HGNC:1078
- Limited · ClinGen · Autosomal dominant · 2023
- CASZ1HGNC:26002
- Limited · ClinGen · Autosomal dominant · 2024
- CHRDHGNC:1949
- Limited · ClinGen · Autosomal recessive · 2023
- CRELD1HGNC:14630
- Limited · ClinGen · Autosomal dominant · 2023
- CRIPTOHGNC:11701
- Limited · ClinGen · Autosomal dominant · 2024
- EFNB2HGNC:3227
- Limited · ClinGen · Autosomal dominant · 2026
- ETV2HGNC:3491
- Limited · PanelApp Australia · Autosomal recessive · 2025
- FBLN2HGNC:3601
- Limited · ClinGen · Autosomal dominant · 2023
- GJA1HGNC:4274
- Limited · ClinGen · Unknown · 2024
- HAS2HGNC:4819
- Limited · ClinGen · Autosomal dominant · 2023
- HEY2HGNC:4881
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · PanelApp Australia · Semidominant · 2025
- IRX4HGNC:6129
- Limited · ClinGen · Autosomal dominant · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
- KDM5AHGNC:9886
- Limited · ClinGen · Autosomal dominant · 2024
- KIF20AHGNC:9787
- Limited · ClinGen · Autosomal recessive · 2024
- LEFTY2HGNC:3122
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- MED13LHGNC:22962
- Limited · ClinGen · Autosomal dominant · 2024
- MYBPC3HGNC:7551
- Limited · ClinGen · Autosomal dominant · 2024
- MYH11HGNC:7569
- Limited · ClinGen · Autosomal dominant · 2024
- MYH7HGNC:7577
- Limited · ClinGen · Autosomal dominant · 2024
- MYOM1HGNC:7613
- Limited · LiferaOmics · Autosomal recessive · 2026
- NFATC1HGNC:7775
- Limited · ClinGen · Autosomal dominant · 2026
- NRP1HGNC:8004
- Limited · ClinGen · Autosomal recessive · 2024
- PDGFRAHGNC:8803
- Limited · ClinGen · Autosomal dominant · 2024
- RNF40HGNC:16867
- Limited · ClinGen · Autosomal dominant · 2024
- ROBO1HGNC:10249
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · ClinGen · Autosomal recessive · 2024
- SMAD1HGNC:6767
- Limited · ClinGen · Autosomal dominant · 2024
- SMAD7HGNC:6773
- Limited · ClinGen · Autosomal dominant · 2024
- SNAI1HGNC:11128
- Limited · ClinGen · Autosomal dominant · 2024
- SORBS2HGNC:24098
- Limited · Ambry Genetics · Autosomal dominant · 2025
- SOX7HGNC:18196
- Limited · ClinGen · Autosomal dominant · 2024
- SRFHGNC:11291
- Limited · ClinGen · Autosomal dominant · 2024
- TLL1HGNC:11843
- Limited · ClinGen · Autosomal dominant · 2024
- USP34HGNC:20066
- Limited · ClinGen · Autosomal dominant · 2024
- USP44HGNC:20064
- Limited · ClinGen · Autosomal dominant · 2024
- VEGFAHGNC:12680
- Limited · ClinGen · Autosomal dominant · 2024
- WDR47HGNC:29141
- Limited · PanelApp Australia · Autosomal dominant · 2025
- WDR5HGNC:12757
- Limited · ClinGen · Autosomal dominant · 2024
- WNT11HGNC:12776
- Limited · PanelApp Australia · Autosomal recessive · 2025
- ZFPM1HGNC:19762
- Limited · ClinGen · Autosomal dominant · 2024
- ATE1HGNC:782
- Disputed Evidence · ClinGen · Autosomal recessive · 2026
- COL1A2HGNC:2198
- Disputed Evidence · ClinGen · Unknown · 2024
- CSRP1HGNC:2469
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- CTNNA3HGNC:2511
- Disputed Evidence · ClinGen · Unknown · 2023
- DAND5HGNC:26780
- Disputed Evidence · ClinGen · Unknown · 2024
- DCHS1HGNC:13681
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- DTNAHGNC:3057
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- FMO5HGNC:3773
- Disputed Evidence · ClinGen · Autosomal dominant · 2026
- FOXL1HGNC:3817
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- FOXP1HGNC:3823
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- GJA5HGNC:4279
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- HDAC1HGNC:4852
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- HEY1HGNC:4880
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- ID2HGNC:5361
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
- NFATC2HGNC:7776
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- NTRK3HGNC:8033
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- OSR1HGNC:8111
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- PRKAB2HGNC:9379
- Disputed Evidence · ClinGen · Unknown · 2024
- PROX1HGNC:9459
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- RAI2HGNC:9835
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- SCN5AHGNC:10593
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- UGDHHGNC:12525
- Disputed Evidence · ClinGen · Autosomal dominant · 2024
- CRKLHGNC:2363
- No Known Disease Relationship · ClinGen · Unknown · 2023
- KCNJ2HGNC:6263
- No Known Disease Relationship · ClinGen · Unknown · 2024
- LRP2HGNC:6694
- No Known Disease Relationship · ClinGen · Autosomal recessive · 2024
- MAML2HGNC:16259
- No Known Disease Relationship · ClinGen · Unknown · 2024
- PCSK6HGNC:8569
- No Known Disease Relationship · ClinGen · Unknown · 2024
- RECQL4HGNC:9949
- No Known Disease Relationship · ClinGen · Autosomal dominant · 2025
- RXRAHGNC:10477
- No Known Disease Relationship · ClinGen · Unknown · 2024
- TCF21HGNC:11632
- No Known Disease Relationship · ClinGen · Unknown · 2024
- VCLHGNC:12665
- No Known Disease Relationship · ClinGen · Unknown · 2024
Where it sits
- Narrower terms (23)
- ACTC1-related distal arthrogryposis with congenital heart disease
- aortic valve atresia
- congenital heart defects, multiple types
- congenital pulmonary veins anomaly
- coronary artery congenital malformation
- dextro-looped transposition of the great arteries
- GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes
- GATA5-related congenital heart defects
- GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes
- HAND1 related congenital heart defect
- HAND2 related congenital heart defect
- heart defects-limb shortening syndrome
- heart septal defect
- mehta lewis patton syndrome
- mitral atresia disorder
- patent ductus arteriosus
- persistent truncus arteriosus
Other names
3 names
Resolves to: congenital heart disease
- Also called
- congenital anomaly of heartcongenital heart defectcongenital heart defects