atrial heart septal defect 7

Term ID

DOID:0110112

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

Definition

An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. https://www.ncbi.nlm.nih.gov/pubmed/9651244

References

• ICD10CM:Q21.1
• MIM:108900
• ORDO:1479

Ontology

Human Disease   ( DOID:0110112 )