Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B3676f717871bb5aeec5feba7351ace32> ?p ?o ?g. }
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- B3676f717871bb5aeec5feba7351ace32 NCIT_P378 "NCI" @default.
- B3676f717871bb5aeec5feba7351ace32 type Axiom @default.
- B3676f717871bb5aeec5feba7351ace32 annotatedProperty IAO_0000115 @default.
- B3676f717871bb5aeec5feba7351ace32 annotatedSource NCIT_C74998 @default.
- B3676f717871bb5aeec5feba7351ace32 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.