Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/612794 http://purl.bioontology.org/ontology/OMIM/612794
Preferred Name	ATRIAL SEPTAL DEFECT 5
Synonyms	ASD5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ASD5
prefLabel	ATRIAL SEPTAL DEFECT 5
Gene Symbol	LVNC4 CMH11 ACTC1 CMD1R ASD5
Scope Statement	Caused by mutation in the actin, alpha, cardiac muscle gene (ACTC1, 102540.0005) [MOLECULAR BASIS] Two Swedish families have been described [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU054769
tui	T047 T019
Gene Locus	15q14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	612794
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	C2748552
OMIM Entry Type	3
OMIM MimType Value	pound

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