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familial atrioventricular septal defect

Go to external page http://purl.obolibrary.org/obo/MONDO_0020290

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. [ MESH:D004694 ]

Synonyms: Atrioventricular Septal Defect

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:98722 (MONDO:equivalentTo)
  • ICD9:745.6 (DOID:0050651)
  • NCIT:C101029 (MONDO:equivalentTo)
  • DOID:0050651 (MONDO:equivalentTo)
  • ICD9:745.69 (MONDO:relatedTo)
  • GARD:802 (MONDO:GARD)
  • SCTID:15459006 (MONDO:equivalentTo)
  • ICD9:745.60 (MONDO:i2s)
  • OMIMPS:606215 (https://orcid.org/0000-0002-6601-2165)
  • NORD:821 (MONDO:NORD)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

abbreviation
ECD [ DOID:0050651 ]

abbreviation
AVSD [ Orphanet:98722 DOID:0050651 ]

abbreviation
AVCD [ DOID:0050651 ]

exactMatch

http://purl.obolibrary.org/obo/NCIT_C101029

http://identifiers.org/snomedct/15459006

https://omim.org/phenotypicSeries/PS606215

http://purl.obolibrary.org/obo/DOID_0050651

http://www.orpha.net/ORDO/Orphanet_98722

has narrow synonym

atrioventricular canal defect

common AV canal

common atrioventricular canal

endocardial cushion defect

ECD

AVSD

AVCD

AV septal defect

atrioventricular septal defect

id

MONDO:0020290

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml