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- NCIT_C170730 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the TPI1 gene, encoding triosephosphate isomerase. It is characterized by congenital hemolytic anemia and progressive neuromuscular dysfunction." @default.
- NCIT_C170730 NCIT_NHC0 "C170730" @default.
- NCIT_C170730 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C170730 NCIT_P108 "Triosephosphate-Isomerase Deficiency" @default.
- NCIT_C170730 NCIT_P310 "Retired_Concept" @default.
- NCIT_C170730 NCIT_P98 "Wed Apr 29 10:23:26 EDT 2020 - See 'Triosephosphate Isomerase Deficiency(C131652)'" @default.
- NCIT_C170730 normalizedInformationContent "100" @default.
- NCIT_C170730 referenceCount "1" @default.
- NCIT_C170730 hasExactSynonym "TP1 Deficiency" @default.
- NCIT_C170730 hasExactSynonym "Triosephosphate-Isomerase Deficiency" @default.
- NCIT_C170730 type Class @default.
- NCIT_C170730 isDefinedBy ncit.owl @default.
- NCIT_C170730 label "Triosephosphate-Isomerase Deficiency" @default.
- NCIT_C170730 subClassOf NCIT_C170730 @default.
- NCIT_C170730 subClassOf NCIT_C176957 @default.
- NCIT_C170730 subClassOf NCIT_C28428 @default.
- NCIT_C170730 deprecated "true" @default.