Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614432 http://purl.bioontology.org/ontology/OMIM/614432
Preferred Name	VENTRICULAR SEPTAL DEFECT 3
Synonyms	VSD3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	VSD3
prefLabel	VENTRICULAR SEPTAL DEFECT 3
Gene Symbol	CHNG5 HLHS2 NKX2E VSD3 CSX NKX2-5 See more See less
Scope Statement	Caused by mutation in the NK2 homeobox-5 gene (NKX2-5, 600584.0021) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU012460 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU069299 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU069302 http://purl.bioontology.org/ontology/OMIM/MTHU036338 See more See less
tui	T047 T019
Gene Locus	5q34
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614432
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	C3280785
OMIM Entry Type	3
OMIM MimType Value	pound

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