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Experimental Factor Ontology
| Preferred Name | familial atrioventricular septal defect | |
| Synonyms |
endocardial cushion defect common atrioventricular canal AV septal defect atrioventricular septal defect common AV canal atrioventricular canal defect AVCD AVSD ECD Atrioventricular Septal Defect |
|
| Definitions |
A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0020290 |
|
| database_cross_reference |
ICD9:745.60 ICD9:745.69 DOID:0050651 NCIT:C101029 SCTID:15459006 OMIMPS:606215 Orphanet:98722 GARD:802 ICD9:745.6 NORD:821
|
|
| definition |
A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.
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|
| disease has location | ||
| exactMatch |
http://identifiers.org/snomedct/15459006 http://purl.obolibrary.org/obo/DOID_0050651 http://purl.obolibrary.org/obo/Orphanet_98722 |
|
| has_exact_synonym |
Atrioventricular Septal Defect
|
|
| has_narrow_synonym |
endocardial cushion defect common atrioventricular canal AV septal defect atrioventricular septal defect common AV canal atrioventricular canal defect AVCD AVSD ECD
|
|
| id |
MONDO:0020290
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
familial atrioventricular septal defect
|
|
| notation |
MONDO:0020290
|
|
| preferred label |
familial atrioventricular septal defect
|
|
| prefLabel |
familial atrioventricular septal defect
|
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0020290 | MONDO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020290 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020290 | DOVES | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020290 | MONDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0020290 | CCONT | LOOM |
| rgo:25071 | GAMUTS | LOOM |