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Metadata
ID DOID:0110112
Name atrial heart septal defect 7
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
Xrefs

ICD10CM:Q21.1

OMIM:108900

ORDO:1479

Subsets

DO_rare_slim

Synonyms

ASD with or without atrioventricular conduction defects [EXACT]

atrial septal defect 7, with or without AV conduction defects [EXACT]

atrial septal defect-atrioventricular conduction defects syndrome [EXACT]

Parent Relationships

is_a atrial heart septal defect

is_a autosomal dominant disease

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