Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Be582b1bfc27251393a9918fa1ad21401> ?p ?o ?g. }
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- Be582b1bfc27251393a9918fa1ad21401 hasDbXref "Orphanet:217622" @default.
- Be582b1bfc27251393a9918fa1ad21401 type Axiom @default.
- Be582b1bfc27251393a9918fa1ad21401 annotatedProperty IAO_0000115 @default.
- Be582b1bfc27251393a9918fa1ad21401 annotatedSource MONDO_0011541 @default.
- Be582b1bfc27251393a9918fa1ad21401 annotatedTarget "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." @default.