Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bbf9f2d9fb1538d5fad7d0a7d89db2d87> ?p ?o ?g. }
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- Bbf9f2d9fb1538d5fad7d0a7d89db2d87 hasDbXref "Orphanet:2590" @default.
- Bbf9f2d9fb1538d5fad7d0a7d89db2d87 type Axiom @default.
- Bbf9f2d9fb1538d5fad7d0a7d89db2d87 annotatedProperty IAO_0000115 @default.
- Bbf9f2d9fb1538d5fad7d0a7d89db2d87 annotatedSource MONDO_0008045 @default.
- Bbf9f2d9fb1538d5fad7d0a7d89db2d87 annotatedTarget "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." @default.