Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bbd854130e38d6a45eebcd68cd6f20f93> ?p ?o ?g. }
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- Bbd854130e38d6a45eebcd68cd6f20f93 hasDbXref "Orphanet:66634" @default.
- Bbd854130e38d6a45eebcd68cd6f20f93 type Axiom @default.
- Bbd854130e38d6a45eebcd68cd6f20f93 annotatedProperty IAO_0000115 @default.
- Bbd854130e38d6a45eebcd68cd6f20f93 annotatedSource MONDO_0012435 @default.
- Bbd854130e38d6a45eebcd68cd6f20f93 annotatedTarget "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria." @default.