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dilated cardiomyopathy 1J

Go to external page http://purl.obolibrary.org/obo/MONDO_0011541

An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. [ Orphanet:217622 ]

Synonyms: familial dilated cardiomyopathy caused by mutation in EYA4 neurosensory deafness with dilated cardiomyopathy cardiomyopathy, dilated, type 1J sensorineural deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy CMD1J sensorineural hearing loss with dilated cardiomyopathy dilated cardiomyopathy type 1J EYA4 familial dilated cardiomyopathy dilated cardiomyopathy 1J autosomal dominant dilated cardiomyopathy with sensorineural hearing loss

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:17128 (Orphanet:217622)
  • Orphanet:217622 (OMIM:605362)
  • DOID:0110440 (MONDO:equivalentTo)
  • OMIM:605362 (Orphanet:217622/e)
  • MESH:C565337 (MONDO:equivalentTo)
  • UMLS:C1854368 (OMIM:605362)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0110440

http://linkedlifedata.com/resource/umls/id/C1854368

http://identifiers.org/mesh/C565337

https://omim.org/entry/605362

http://www.orpha.net/ORDO/Orphanet_217622

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0016337

has related synonym

cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant

cardiomyopathy, dilated, 1J

id

MONDO:0011541

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011541

Term relations