FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term atrioventricular septal defect ID (Ontology) DOID:0050651 (Human Disease)
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.
Also Known As "atrioventricular canal defect" ; "AVCD" ; "AVSD" (for all, see Synonyms field below)
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 Genes
 atrioventricular septal defect       4
 for disease ribbon | atrioventricular septal defect       4
 model of | atrioventricular septal defect       4
Spanning Tree (Parents/Children)
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  congenital heart disease
   |__heart septal defect
       |__atrioventricular septal defect  4 rec.
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Is a heart septal defect
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Synonyms
  • "atrioventricular canal defect" EXACT
    "AVCD" EXACT OMO:0003012
    "AVSD" EXACT OMO:0003012
    "ECD" EXACT OMO:0003012
    "endocardial cushion defect" EXACT
Secondary IDs
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GARD:802
ICD10CM:Q21.2
ICD9CM:745.6
MESH:D004694
MIM:606215
MIM:614430
MIM:614474
ORDO:98722
SNOMEDCT_US_2023_03_01:204322008
UMLS_CUI:C0014116