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atrioventricular septal defect
Summary
- Synonym
-
- AVCD
- AVSD
- ECD
- atrioventricular canal defect
- endocardial cushion defect
- Definition
- A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
- Super Class
- heart septal defect
External Links
- Disease Ontology
- DOID:0050651
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 652 | BMP4 | bone morphogenetic protein 4 | |
| 2626 | GATA4 | GATA binding protein 4 | |
| 3491 | CCN1 | cellular communication network factor 1 | |
| 8701 | DNAH11 | dynein axonemal heavy chain 11 | |
| 9975 | NR1D2 | nuclear receptor subfamily 1 group D member 2 | |
| 78987 | CRELD1 | cysteine rich with EGF like domains 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005133 | Right ventricular dilatation |
| HP:0012382 | Left-to-right shunt |
| HP:0005957 | Breathing dysregulation |
| HP:0003546 | Exercise intolerance |
| HP:0011675 | Arrhythmia |
| HP:0005115 | Supraventricular arrhythmia |
| HP:0012378 | Fatigue |
| HP:0005317 | Increased pulmonary vascular resistance |
| HP:0012764 | Orthopnea |
| HP:0005162 | Abnormal left ventricular function |
