loading...| Preferred Name |
Atrioventricular canal defect |
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| Synonyms |
Endocardial cushion defect Atrioventricular septal defect Hole in center of heart Hole in centre of heart |
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| Definitions |
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. A defect of the atrioventricular septum of the heart. |
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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 |
Fyler:0606 UMLS:C1389016 SNOMEDCT_US:15459006 MSH:C562831 UMLS:C0014116 MSH:D004694 Fyler:1100 Fyler:606 |
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| definition |
A defect of the atrioventricular septum of the heart. |
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| has_alternative_id |
HP:0005139 HP:0010439 HP:0005298 |
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| has_broad_synonym |
Hole in center of heart Hole in centre of heart |
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| has_exact_synonym |
Endocardial cushion defect Atrioventricular septal defect |
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| has_obo_namespace |
human_phenotype |
|
| id |
HP:0006695 |
|
| label |
Atrioventricular canal defect |
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| notation |
HP:0006695 |
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| prefLabel |
Atrioventricular canal defect |
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| treeView | ||
| subClassOf |