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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 414 | ARSD | arylsulfatase D | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 51266 | CLEC1B | C-type lectin domain family 1 member B | |
| 55997 | CFC1 | cryptic, EGF-CFC family member 1 |
Related Glycoprotein
