Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614429 http://purl.bioontology.org/ontology/OMIM/614429
Preferred Name	VENTRICULAR SEPTAL DEFECT 1
Synonyms	VSD1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	VSD1
prefLabel	VENTRICULAR SEPTAL DEFECT 1
Gene Symbol	VSD1 GATA4 ASD2 TACHD TOF
Scope Statement	Caused by mutation in the GATA-binding protein-4 gene (GATA4, 600576.0007) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004506 http://purl.bioontology.org/ontology/OMIM/MTHU069299 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU036338
tui	T047 T019
Gene Locus	8p23.1-p22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614429
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3280777
OMIM Entry Type	3
OMIM MimType Value	pound

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