Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba011f0d0f15d636bace1fdded0708cc8> ?p ?o ?g. }
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- Ba011f0d0f15d636bace1fdded0708cc8 hasDbXref "Orphanet:59" @default.
- Ba011f0d0f15d636bace1fdded0708cc8 type Axiom @default.
- Ba011f0d0f15d636bace1fdded0708cc8 annotatedProperty IAO_0000115 @default.
- Ba011f0d0f15d636bace1fdded0708cc8 annotatedSource MONDO_0010354 @default.
- Ba011f0d0f15d636bace1fdded0708cc8 annotatedTarget "A syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency." @default.