Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B5283ed6fabbb209a515f1e4443095acb> ?p ?o ?g. }
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- B5283ed6fabbb209a515f1e4443095acb hasDbXref "NCIT:C85861" @default.
- B5283ed6fabbb209a515f1e4443095acb type Axiom @default.
- B5283ed6fabbb209a515f1e4443095acb annotatedProperty IAO_0000115 @default.
- B5283ed6fabbb209a515f1e4443095acb annotatedSource MONDO_0009744 @default.
- B5283ed6fabbb209a515f1e4443095acb annotatedTarget "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." @default.