Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bbe8d261491170a677d43d7318a6a4ce3> ?p ?o ?g. }
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- Bbe8d261491170a677d43d7318a6a4ce3 hasDbXref "NCIT:C74998" @default.
- Bbe8d261491170a677d43d7318a6a4ce3 type Axiom @default.
- Bbe8d261491170a677d43d7318a6a4ce3 annotatedProperty IAO_0000115 @default.
- Bbe8d261491170a677d43d7318a6a4ce3 annotatedSource MONDO_0009728 @default.
- Bbe8d261491170a677d43d7318a6a4ce3 annotatedTarget "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." @default.