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- NCIT_C103968 IAO_0000115 "A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia." @default.
- NCIT_C103968 NCIT_NHC0 "C103968" @default.
- NCIT_C103968 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C103968 NCIT_P108 "Pyruvate Dehydrogenase Deficiency" @default.
- NCIT_C103968 NCIT_P207 "C0034345" @default.
- NCIT_C103968 NCIT_P322 "Cellosaurus" @default.
- NCIT_C103968 NCIT_P322 "NICHD" @default.
- NCIT_C103968 normalizedInformationContent "100" @default.
- NCIT_C103968 referenceCount "1" @default.
- NCIT_C103968 hasExactSynonym "PDH" @default.
- NCIT_C103968 hasExactSynonym "Pyruvate Dehydrogenase Deficiency" @default.
- NCIT_C103968 inSubset NCIT_C165258 @default.
- NCIT_C103968 inSubset NCIT_C192842 @default.
- NCIT_C103968 inSubset NCIT_C90259 @default.
- NCIT_C103968 inSubset NCIT_C99147 @default.
- NCIT_C103968 type Class @default.
- NCIT_C103968 isDefinedBy ncit.owl @default.
- NCIT_C103968 label "Pyruvate Dehydrogenase Deficiency" @default.
- NCIT_C103968 subClassOf NCIT_C103968 @default.
- NCIT_C103968 subClassOf NCIT_C2991 @default.
- NCIT_C103968 subClassOf NCIT_C3235 @default.
- NCIT_C103968 subClassOf NCIT_C34816 @default.
- NCIT_C103968 subClassOf NCIT_C4873 @default.
- NCIT_C103968 subClassOf NCIT_C53529 @default.
- NCIT_C103968 subClassOf NCIT_C53543 @default.
- NCIT_C103968 subClassOf NCIT_C53547 @default.
- NCIT_C103968 subClassOf NCIT_C7057 @default.