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GENE - TERM ANNOTATION REPORT

RGD ID: 730832
Species: Homo sapiens
RGD Object: Gene
Symbol: BMP4
Name: bone morphogenetic protein 4
Acc ID: DOID:0050651
Term: atrioventricular septal defect
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. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Atrioventricular_septal_defect "DO" "DO", http://www.cdc.gov/ncbddd/heartdefects/avsd.html "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
BMP4 ISSBmp4 (Mus musculus)13592920MouseDOOMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 
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