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- NCIT_C98640 IAO_0000115 "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs." @default.
- NCIT_C98640 NCIT_A13 NCIT_C177195 @default.
- NCIT_C98640 NCIT_A13 NCIT_C177224 @default.
- NCIT_C98640 NCIT_A13 NCIT_C177227 @default.
- NCIT_C98640 NCIT_A32 NCIT_C16457 @default.
- NCIT_C98640 NCIT_NHC0 "C98640" @default.
- NCIT_C98640 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C98640 NCIT_P108 "Tyrosinemia" @default.
- NCIT_C98640 NCIT_P207 "C0268483" @default.
- NCIT_C98640 NCIT_P322 "GDC" @default.
- NCIT_C98640 NCIT_P375 "Tyrosinemia" @default.
- NCIT_C98640 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C98640 referenceCount "3" @default.
- NCIT_C98640 hasExactSynonym "Tyrosinemia" @default.
- NCIT_C98640 inSubset NCIT_C157711 @default.
- NCIT_C98640 inSubset NCIT_C177537 @default.
- NCIT_C98640 type Class @default.
- NCIT_C98640 isDefinedBy ncit.owl @default.
- NCIT_C98640 label "Tyrosinemia" @default.
- NCIT_C98640 subClassOf NCIT_C2991 @default.
- NCIT_C98640 subClassOf NCIT_C3235 @default.
- NCIT_C98640 subClassOf NCIT_C34816 @default.
- NCIT_C98640 subClassOf NCIT_C53529 @default.
- NCIT_C98640 subClassOf NCIT_C53547 @default.
- NCIT_C98640 subClassOf NCIT_C7057 @default.
- NCIT_C98640 subClassOf NCIT_C97090 @default.
- NCIT_C98640 subClassOf NCIT_C98640 @default.