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Mondo Disease Ontology
| Preferred Name | familial atrioventricular septal defect | |
| Synonyms |
ECD AVSD atrioventricular canal defect AV septal defect AVCD atrioventricular septal defect common AV canal common atrioventricular canal endocardial cushion defect 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 |
ICD9:745.69 ICD9:745.6 SCTID:15459006 NORD:821 DOID:0050651 OMIMPS:606215 ICD9:745.60 GARD:802 Orphanet:98722 NCIT:C101029
|
|
| 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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|
| has_exact_synonym |
Atrioventricular Septal Defect
|
|
| has_narrow_synonym |
ECD AVSD atrioventricular canal defect AV septal defect AVCD atrioventricular septal defect common AV canal common atrioventricular canal endocardial cushion defect
|
|
| id |
MONDO:0020290
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
familial atrioventricular septal defect
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|
| notation |
MONDO:0020290
|
|
| prefLabel |
familial atrioventricular septal defect
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|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| skos_exactMatch |
http://identifiers.org/snomedct/15459006 http://purl.obolibrary.org/obo/DOID_0050651 http://purl.obolibrary.org/obo/Orphanet_98722 |
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| treeView | ||
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0020290 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020290 | EFO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020290 | DOVES | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0020290 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0020290 | EFO | LOOM |
| rgo:25071 | GAMUTS | LOOM |