Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614302 http://purl.bioontology.org/ontology/OMIM/614302
Preferred Name	EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
Synonyms	EDMD7
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EDMD7
prefLabel	EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
Gene Symbol	AUNA3 EDMD7 TMEM43 ARVC5 ARVD5
Scope Statement	Slowly progressive [MISCELLANEOUS] Two Japanese patients have been reported (last curated March 2013) [MISCELLANEOUS] Adult onset [MISCELLANEOUS] Caused by mutation in the transmembrane 43 gene (TMEM43, 612048.0002) [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/MTHU000650 http://purl.bioontology.org/ontology/OMIM/MTHU009358 http://purl.bioontology.org/ontology/OMIM/MTHU012522 http://purl.bioontology.org/ontology/OMIM/MTHU000988 http://purl.bioontology.org/ontology/OMIM/MTHU000347 http://purl.bioontology.org/ontology/OMIM/MTHU001732 http://purl.bioontology.org/ontology/OMIM/MTHU006726 See more See less
tui	T047
Gene Locus	3p25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614302
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3553060
OMIM Entry Type	3
OMIM MimType Value	pound

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