Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7e0571d3cfd62ab0c5b2e2d1fcf432f7> ?p ?o ?g. }
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- B7e0571d3cfd62ab0c5b2e2d1fcf432f7 hasDbXref "OMIM:617836" @default.
- B7e0571d3cfd62ab0c5b2e2d1fcf432f7 type Axiom @default.
- B7e0571d3cfd62ab0c5b2e2d1fcf432f7 annotatedProperty IAO_0000115 @default.
- B7e0571d3cfd62ab0c5b2e2d1fcf432f7 annotatedSource MONDO_0044326 @default.
- B7e0571d3cfd62ab0c5b2e2d1fcf432f7 annotatedTarget "DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017})." @default.