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- NCIT_C98678 IAO_0000115 "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine." @default.
- NCIT_C98678 NCIT_NHC0 "C98678" @default.
- NCIT_C98678 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C98678 NCIT_P108 "3-Methylglutaconic Aciduria" @default.
- NCIT_C98678 NCIT_P207 "C3844621" @default.
- NCIT_C98678 normalizedInformationContent "89.350088392419622" @default.
- NCIT_C98678 referenceCount "5" @default.
- NCIT_C98678 hasExactSynonym "3-Methylglutaconic Aciduria" @default.
- NCIT_C98678 type Class @default.
- NCIT_C98678 isDefinedBy ncit.owl @default.
- NCIT_C98678 label "3-Methylglutaconic Aciduria" @default.
- NCIT_C98678 subClassOf NCIT_C101334 @default.
- NCIT_C98678 subClassOf NCIT_C2991 @default.
- NCIT_C98678 subClassOf NCIT_C3235 @default.
- NCIT_C98678 subClassOf NCIT_C34816 @default.
- NCIT_C98678 subClassOf NCIT_C53529 @default.
- NCIT_C98678 subClassOf NCIT_C53547 @default.
- NCIT_C98678 subClassOf NCIT_C7057 @default.
- NCIT_C98678 subClassOf NCIT_C98678 @default.