Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8a8d3e7d9e8220098b911ec4d1f9c4f7> ?p ?o ?g. }
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- B8a8d3e7d9e8220098b911ec4d1f9c4f7 hasDbXref "NCIT:C128114" @default.
- B8a8d3e7d9e8220098b911ec4d1f9c4f7 type Axiom @default.
- B8a8d3e7d9e8220098b911ec4d1f9c4f7 annotatedProperty IAO_0000115 @default.
- B8a8d3e7d9e8220098b911ec4d1f9c4f7 annotatedSource MONDO_0011374 @default.
- B8a8d3e7d9e8220098b911ec4d1f9c4f7 annotatedTarget "An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia." @default.