Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb796f30fdc61d68c930ac092e9b605a1> ?p ?o ?g. }
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- Bb796f30fdc61d68c930ac092e9b605a1 hasDbXref "Orphanet:354" @default.
- Bb796f30fdc61d68c930ac092e9b605a1 type Axiom @default.
- Bb796f30fdc61d68c930ac092e9b605a1 annotatedProperty IAO_0000115 @default.
- Bb796f30fdc61d68c930ac092e9b605a1 annotatedSource MONDO_0018149 @default.
- Bb796f30fdc61d68c930ac092e9b605a1 annotatedTarget "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." @default.