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- NCIT_C125661 IAO_0000115 "A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with severe mental defects and myoclonic seizures." @default.
- NCIT_C125661 NCIT_NHC0 "C125661" @default.
- NCIT_C125661 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C125661 NCIT_P108 "Carnosinemia" @default.
- NCIT_C125661 NCIT_P207 "C3495555" @default.
- NCIT_C125661 NCIT_P322 "Cellosaurus" @default.
- NCIT_C125661 NCIT_R176 NCIT_C16612 @default.
- NCIT_C125661 NCIT_R176 NCIT_C200228 @default.
- NCIT_C125661 NCIT_R176 NCIT_C21275 @default.
- NCIT_C125661 NCIT_R176 NCIT_C21281 @default.
- NCIT_C125661 NCIT_R176 NCIT_C25804 @default.
- NCIT_C125661 NCIT_R176 NCIT_C26003 @default.
- NCIT_C125661 normalizedInformationContent "100" @default.
- NCIT_C125661 referenceCount "1" @default.
- NCIT_C125661 hasExactSynonym "Carnosinase Deficiency" @default.
- NCIT_C125661 hasExactSynonym "Carnosinemia" @default.
- NCIT_C125661 inSubset NCIT_C165258 @default.
- NCIT_C125661 inSubset NCIT_C192842 @default.
- NCIT_C125661 type Class @default.
- NCIT_C125661 isDefinedBy ncit.owl @default.
- NCIT_C125661 label "Carnosinemia" @default.
- NCIT_C125661 subClassOf B1799f743b6c50ed3cb1ca19ae25fdeba @default.
- NCIT_C125661 subClassOf B95d772bb99f0d88b6abf0e3781bddfc5 @default.
- NCIT_C125661 subClassOf NCIT_C125661 @default.
- NCIT_C125661 subClassOf NCIT_C2991 @default.
- NCIT_C125661 subClassOf NCIT_C3235 @default.
- NCIT_C125661 subClassOf NCIT_C4873 @default.
- NCIT_C125661 subClassOf NCIT_C53529 @default.
- NCIT_C125661 subClassOf NCIT_C53543 @default.
- NCIT_C125661 subClassOf NCIT_C53547 @default.
- NCIT_C125661 subClassOf NCIT_C7057 @default.