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- NCIT_C84612 IAO_0000115 "A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability." @default.
- NCIT_C84612 NCIT_NHC0 "C84612" @default.
- NCIT_C84612 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84612 NCIT_P108 "Carbamoyl-Phosphate Synthetase I Deficiency" @default.
- NCIT_C84612 NCIT_P207 "C0751753" @default.
- NCIT_C84612 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84612 NCIT_P322 "NICHD" @default.
- NCIT_C84612 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84612 NCIT_R176 NCIT_C190624 @default.
- NCIT_C84612 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84612 NCIT_R176 NCIT_C25943 @default.
- NCIT_C84612 normalizedInformationContent "100" @default.
- NCIT_C84612 referenceCount "1" @default.
- NCIT_C84612 hasExactSynonym "Carbamoyl Phosphate Synthetase Deficiency" @default.
- NCIT_C84612 hasExactSynonym "Carbamoyl-Phosphate Synthetase I Deficiency" @default.
- NCIT_C84612 inSubset NCIT_C165258 @default.
- NCIT_C84612 inSubset NCIT_C192842 @default.
- NCIT_C84612 inSubset NCIT_C90259 @default.
- NCIT_C84612 inSubset NCIT_C99147 @default.
- NCIT_C84612 type Class @default.
- NCIT_C84612 isDefinedBy ncit.owl @default.
- NCIT_C84612 label "Carbamoyl-Phosphate Synthetase I Deficiency" @default.
- NCIT_C84612 subClassOf B81d8cda68c124193a56ff3ac5ec8e1e8 @default.
- NCIT_C84612 subClassOf Bd66f5a959e61a693c53ae04e57a39e43 @default.
- NCIT_C84612 subClassOf NCIT_C2991 @default.
- NCIT_C84612 subClassOf NCIT_C3235 @default.
- NCIT_C84612 subClassOf NCIT_C34816 @default.
- NCIT_C84612 subClassOf NCIT_C4873 @default.
- NCIT_C84612 subClassOf NCIT_C53529 @default.
- NCIT_C84612 subClassOf NCIT_C53543 @default.
- NCIT_C84612 subClassOf NCIT_C53547 @default.
- NCIT_C84612 subClassOf NCIT_C7057 @default.
- NCIT_C84612 subClassOf NCIT_C84612 @default.
- NCIT_C84612 subClassOf NCIT_C84785 @default.