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- NCIT_C74998 IAO_0000115 "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.
- NCIT_C74998 NCIT_NHC0 "C74998" @default.
- NCIT_C74998 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C74998 NCIT_P108 "Nephronophthisis 1" @default.
- NCIT_C74998 NCIT_P207 "C1855681" @default.
- NCIT_C74998 NCIT_P322 "Cellosaurus" @default.
- NCIT_C74998 NCIT_P366 "Familiar_Juvenile_Nephronophthisis" @default.
- NCIT_C74998 NCIT_R100 NCIT_C12219 @default.
- NCIT_C74998 NCIT_R100 NCIT_C12413 @default.
- NCIT_C74998 NCIT_R100 NCIT_C12415 @default.
- NCIT_C74998 NCIT_R100 NCIT_C12810 @default.
- NCIT_C74998 NCIT_R100 NCIT_C12919 @default.
- NCIT_C74998 NCIT_R100 NCIT_C13018 @default.
- NCIT_C74998 NCIT_R101 NCIT_C12219 @default.
- NCIT_C74998 NCIT_R101 NCIT_C12413 @default.
- NCIT_C74998 NCIT_R101 NCIT_C12415 @default.
- NCIT_C74998 NCIT_R101 NCIT_C12810 @default.
- NCIT_C74998 NCIT_R101 NCIT_C12919 @default.
- NCIT_C74998 NCIT_R101 NCIT_C13018 @default.
- NCIT_C74998 NCIT_R176 NCIT_C16612 @default.
- NCIT_C74998 NCIT_R176 NCIT_C20921 @default.
- NCIT_C74998 NCIT_R176 NCIT_C25997 @default.
- NCIT_C74998 NCIT_R176 NCIT_C75861 @default.
- NCIT_C74998 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C74998 referenceCount "2" @default.
- NCIT_C74998 hasExactSynonym "Familial Juvenile Nephronophthisis" @default.
- NCIT_C74998 hasExactSynonym "Juvenile Nephronophthisis" @default.
- NCIT_C74998 hasExactSynonym "NPH1" @default.
- NCIT_C74998 hasExactSynonym "Nephronophthisis 1" @default.
- NCIT_C74998 inSubset NCIT_C165258 @default.
- NCIT_C74998 inSubset NCIT_C192842 @default.
- NCIT_C74998 type Class @default.
- NCIT_C74998 isDefinedBy ncit.owl @default.
- NCIT_C74998 label "Nephronophthisis 1" @default.
- NCIT_C74998 subClassOf B32dae3e463369ad95b1b2ee570d576d3 @default.
- NCIT_C74998 subClassOf Bdde0fa5424492617ca03b5512b2044c8 @default.
- NCIT_C74998 subClassOf NCIT_C123200 @default.
- NCIT_C74998 subClassOf NCIT_C156660 @default.
- NCIT_C74998 subClassOf NCIT_C156664 @default.
- NCIT_C74998 subClassOf NCIT_C27551 @default.
- NCIT_C74998 subClassOf NCIT_C27599 @default.
- NCIT_C74998 subClassOf NCIT_C27600 @default.
- NCIT_C74998 subClassOf NCIT_C2991 @default.
- NCIT_C74998 subClassOf NCIT_C3149 @default.
- NCIT_C74998 subClassOf NCIT_C3430 @default.
- NCIT_C74998 subClassOf NCIT_C34843 @default.
- NCIT_C74998 subClassOf NCIT_C53529 @default.
- NCIT_C74998 subClassOf NCIT_C53531 @default.
- NCIT_C74998 subClassOf NCIT_C7057 @default.
- NCIT_C74998 subClassOf NCIT_C74998 @default.