Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613697 http://purl.bioontology.org/ontology/OMIM/613697
Preferred Name	CARDIOMYOPATHY, DILATED, 1V
Synonyms	CMD1V
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CMD1V
prefLabel	CARDIOMYOPATHY, DILATED, 1V
Gene Symbol	AD4 STM2 PSEN2 CMD1V
Scope Statement	Milder disease with a more favorable prognosis than CMD1U (613694) due to PSEN1 mutations [MISCELLANEOUS] Mutations show partial penetrance [MISCELLANEOUS] Caused by mutation in the presenilin-2 gene (PSEN2, 600759.0008) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009472 http://purl.bioontology.org/ontology/OMIM/MTHU019869 http://purl.bioontology.org/ontology/OMIM/MTHU005009 http://purl.bioontology.org/ontology/OMIM/MTHU034522
tui	T047
Gene Locus	1q31-q42
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613697
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3150958
OMIM Entry Type	3
OMIM MimType Value	pound

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