loading...| Preferred Name | Atrioventricular canal defect | |
| Synonyms |
Hole in centre of heart Hole in center of heart Atrioventricular septal defect Endocardial cushion defect |
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| Definitions |
A defect of the atrioventricular septum of the heart. During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. |
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| ID |
http://purl.obolibrary.org/obo/HP_0006695 |
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| comment |
During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. |
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| database_cross_reference |
SNOMEDCT_US:15459006 UMLS:C0344783 UMLS:C0014116 DOID:50651 UMLS:C1389016 Fyler:0606 Fyler:1100 Fyler:606 |
|
| definition |
A defect of the atrioventricular septum of the heart. |
|
| gwas_trait |
true |
|
| has_alternative_id |
HP:0005139 HP:0005298 HP:0010439 |
|
| has_broad_synonym |
Hole in centre of heart Hole in center of heart |
|
| has_exact_synonym |
Atrioventricular septal defect Endocardial cushion defect |
|
| id |
HP:0006695 |
|
| label |
Atrioventricular canal defect |
|
| notation |
HP:0006695 |
|
| preferred label |
Atrioventricular canal defect |
|
| prefLabel |
Atrioventricular canal defect |
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| subClassOf |