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- NCIT_C187258 IAO_0000115 "An autosomal recessive condition characterized by decreased activity of the mitochondrial respiratory chain enzyme complex succinate dehydrogenase (SDH; mitochondrial complex II), which can be caused by loss of function mutation(s) in the any of the genes that encode subunits of SDH. The clinical presentation of this deficiency shows wide variation that ranges from isolated muscle weakness to multisystem symptoms involving the brain, heart and musculoskeletal system with complications such as encephalopathy. Additionally, this condition is associated with an increased risk for cancer because of increased levels of succinate." @default.
- NCIT_C187258 NCIT_A13 NCIT_C103873 @default.
- NCIT_C187258 NCIT_A13 NCIT_C97770 @default.
- NCIT_C187258 NCIT_A13 NCIT_C97773 @default.
- NCIT_C187258 NCIT_A13 NCIT_C97776 @default.
- NCIT_C187258 NCIT_A13 NCIT_C97779 @default.
- NCIT_C187258 NCIT_NHC0 "C187258" @default.
- NCIT_C187258 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C187258 NCIT_P107 "Succinate Dehydrogenase Deficiency" @default.
- NCIT_C187258 NCIT_P108 "Succinate Dehydrogenase Deficiency" @default.
- NCIT_C187258 NCIT_P207 "C1855008" @default.
- NCIT_C187258 NCIT_P322 "CTRP" @default.
- NCIT_C187258 NCIT_R89 NCIT_C36327 @default.
- NCIT_C187258 NCIT_R89 NCIT_C36391 @default.
- NCIT_C187258 NCIT_R89 NCIT_C3910 @default.
- NCIT_C187258 NCIT_R89 NCIT_C48301 @default.
- NCIT_C187258 NCIT_R89 NCIT_C97926 @default.
- NCIT_C187258 normalizedInformationContent "100" @default.
- NCIT_C187258 referenceCount "1" @default.
- NCIT_C187258 hasExactSynonym "Deficiency of Complex II" @default.
- NCIT_C187258 hasExactSynonym "MC2D" @default.
- NCIT_C187258 hasExactSynonym "Mitochondrial Complex II Deficiency" @default.
- NCIT_C187258 hasExactSynonym "Respiratory Complex II Deficiency" @default.
- NCIT_C187258 hasExactSynonym "SDH Deficiency" @default.
- NCIT_C187258 hasExactSynonym "SDHx Deficiency" @default.
- NCIT_C187258 hasExactSynonym "Succinate Dehydrogenase Deficiency" @default.
- NCIT_C187258 hasExactSynonym "Succinate-CoQ Reductase Deficiency" @default.
- NCIT_C187258 hasExactSynonym "Succinate-Coenzyme Q Reductase Deficiency" @default.
- NCIT_C187258 inSubset NCIT_C116977 @default.
- NCIT_C187258 inSubset NCIT_C142799 @default.
- NCIT_C187258 type Class @default.
- NCIT_C187258 isDefinedBy ncit.owl @default.
- NCIT_C187258 label "Succinate Dehydrogenase Deficiency" @default.
- NCIT_C187258 subClassOf B55d70aee65d33021e6bf4176b0c8fe76 @default.
- NCIT_C187258 subClassOf B9dcc3489a05ed5709a15894a869493e3 @default.
- NCIT_C187258 subClassOf NCIT_C118675 @default.
- NCIT_C187258 subClassOf NCIT_C187258 @default.
- NCIT_C187258 subClassOf NCIT_C2991 @default.
- NCIT_C187258 subClassOf NCIT_C3235 @default.
- NCIT_C187258 subClassOf NCIT_C53529 @default.
- NCIT_C187258 subClassOf NCIT_C53547 @default.
- NCIT_C187258 subClassOf NCIT_C7057 @default.