atrial heart septal defect 7

Summary

DOID:0110112 - atrial heart septal defect 7

Disease Ontology Definition:An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.

Synonyms: ASD with or without atrioventricular conduction defects, atrial septal defect 7, with or without AV conduction defects , atrial septal defect-atrioventricular conduction defects syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nkx2-5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007173 - atrial septal defect 7

MONDO:0007173 - atrial septal defect 7

OMIM:

OMIM:108900 - ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ASD7

OMIM:108900 - ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ASD7

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): atrial heart septal defect (is_a), autosomal dominant disease (is_a)