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- NCIT_C177539 IAO_0000115 "An autosomal dominant condition caused by a contiguous gene deletion involving the PKD1 and TSC2 genes, encoding polycystin-1 and tuberin respectively. It is characterized by polycystic kidneys and tuberous sclerosis." @default.
- NCIT_C177539 NCIT_NHC0 "C177539" @default.
- NCIT_C177539 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C177539 NCIT_P108 "Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis" @default.
- NCIT_C177539 NCIT_P207 "C1838327" @default.
- NCIT_C177539 NCIT_P322 "Cellosaurus" @default.
- NCIT_C177539 NCIT_R176 NCIT_C16612 @default.
- NCIT_C177539 NCIT_R176 NCIT_C18260 @default.
- NCIT_C177539 NCIT_R176 NCIT_C20194 @default.
- NCIT_C177539 NCIT_R176 NCIT_C20921 @default.
- NCIT_C177539 NCIT_R176 NCIT_C75894 @default.
- NCIT_C177539 normalizedInformationContent "100" @default.
- NCIT_C177539 referenceCount "1" @default.
- NCIT_C177539 hasExactSynonym "Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis" @default.
- NCIT_C177539 hasExactSynonym "PKDTS" @default.
- NCIT_C177539 hasExactSynonym "Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis" @default.
- NCIT_C177539 hasExactSynonym "TSC2-PKD1 Contiguous Gene Deletion Syndrome" @default.
- NCIT_C177539 inSubset NCIT_C165258 @default.
- NCIT_C177539 inSubset NCIT_C192842 @default.
- NCIT_C177539 type Class @default.
- NCIT_C177539 isDefinedBy ncit.owl @default.
- NCIT_C177539 label "Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis" @default.
- NCIT_C177539 subClassOf B4c66972f46cdb2488d132da00cbbf37f @default.
- NCIT_C177539 subClassOf Bce5a327c0eea11c0bc03832269013127 @default.
- NCIT_C177539 subClassOf NCIT_C177539 @default.
- NCIT_C177539 subClassOf NCIT_C2991 @default.
- NCIT_C177539 subClassOf NCIT_C4873 @default.
- NCIT_C177539 subClassOf NCIT_C53529 @default.
- NCIT_C177539 subClassOf NCIT_C53543 @default.
- NCIT_C177539 subClassOf NCIT_C53547 @default.
- NCIT_C177539 subClassOf NCIT_C7057 @default.