atrioventricular septal defect, susceptibility to, 2

atrioventricular septal defect, susceptibility to, 2

http://purl.obolibrary.org/obo/MONDO_0011650

Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: atrioventricular septal defect, susceptibility to, 2 CRELD1 atrioventricular septal defect atrioventricular septal defect caused by mutation in CRELD1 atrioventricular septal defect, susceptibility to, type 2

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This is just here as a test because I lose it

Term information

database cross reference

OMIM:606217 (MONDO:equivalentTo)
MESH:C565249 (MONDO:equivalentTo)
UMLS:C1853508 (MONDO:equivalentTo)
MEDGEN:381193 (MONDO:equivalentTo)

Subsets

predisposition

abbreviation

AVSD2 [ https://omim.org/entry/606217 MONDO:Lexical ]

exactMatch

http://identifiers.org/medgen/381193

http://linkedlifedata.com/resource/umls/id/C1853508

https://omim.org/entry/606217

http://identifiers.org/mesh/C565249

has related synonym

AVSD2

susceptibility to atrioventricular septal defect 2

atrioventricular septal defect, partial, with heterotaxy syndrome

MONDO:0011650

Term relations

Equivalent to:

inherited disease susceptibility and has material basis in germline mutation in some CRELD1 and predisposes towards some familial atrioventricular septal defect

Subclass of: