Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B9cb0a8a4e1bf6b97520fb8557aba9dc1> ?p ?o ?g. }
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- B9cb0a8a4e1bf6b97520fb8557aba9dc1 hasDbXref "Orphanet:351" @default.
- B9cb0a8a4e1bf6b97520fb8557aba9dc1 type Axiom @default.
- B9cb0a8a4e1bf6b97520fb8557aba9dc1 annotatedProperty IAO_0000115 @default.
- B9cb0a8a4e1bf6b97520fb8557aba9dc1 annotatedSource MONDO_0009737 @default.
- B9cb0a8a4e1bf6b97520fb8557aba9dc1 annotatedTarget "A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form." @default.