Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620203 http://purl.bioontology.org/ontology/OMIM/620203
Preferred Name	CARDIOMYOPATHY, DILATED, 2H
Synonyms	CMD2H
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMD2H
prefLabel	CARDIOMYOPATHY, DILATED, 2H
Gene Symbol	GET3 ARSA1 ASNA1 CMD2H
Scope Statement	Based on a report of 2 patients in 1 family (last curated January 2023) [MISCELLANEOUS] Caused by mutation in the guided entry of tail-anchored proteins factor 3, ATPase gene (GET3, 601913.0001) [MOLECULAR BASIS] Death in infancy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001652 http://purl.bioontology.org/ontology/OMIM/MTHU064469 http://purl.bioontology.org/ontology/OMIM/MTHU076479 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU076478 http://purl.bioontology.org/ontology/OMIM/MTHU037872 http://purl.bioontology.org/ontology/OMIM/MTHU076477 See more See less
tui	T047
Gene Locus	19q13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620203
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5774296
OMIM Entry Type	3
OMIM MimType Value	pound

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