Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/604169 http://purl.bioontology.org/ontology/OMIM/604169
Preferred Name	LEFT VENTRICULAR NONCOMPACTION 1
Synonyms	LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS LVNC1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS LVNC1
prefLabel	LEFT VENTRICULAR NONCOMPACTION 1
Gene Symbol	DTNA DRP3 LVNC1 MMCKR2 D18S892E
Scope Statement	Caused by mutation in the alpha-dystrobrevin gene (DTNA, 601239.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006249 http://purl.bioontology.org/ontology/OMIM/MTHU013516 http://purl.bioontology.org/ontology/OMIM/MTHU001158 http://purl.bioontology.org/ontology/OMIM/MTHU005012 http://purl.bioontology.org/ontology/OMIM/MTHU038630 http://purl.bioontology.org/ontology/OMIM/MTHU038632 http://purl.bioontology.org/ontology/OMIM/MTHU038620 http://purl.bioontology.org/ontology/OMIM/MTHU005753 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU011914 http://purl.bioontology.org/ontology/OMIM/MTHU038631 See more See less
tui	T047
Gene Locus	18q12.1-q12.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	604169
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1858725
Moved from	606617
OMIM Entry Type	3
OMIM MimType Value	pound

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