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- NCIT_C128193 IAO_0000115 "An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is causative in hemolytic anemia due to glutathione synthetase deficiency, with the more severe condition causing elevated urinary concentrations of 5-oxoproline and central nervous system damage in addition to hemolytic anemia." @default.
- NCIT_C128193 NCIT_NHC0 "C128193" @default.
- NCIT_C128193 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C128193 NCIT_P108 "Glutathione Synthetase Deficiency" @default.
- NCIT_C128193 NCIT_P207 "C3844620" @default.
- NCIT_C128193 NCIT_P322 "Cellosaurus" @default.
- NCIT_C128193 NCIT_R176 NCIT_C16612 @default.
- NCIT_C128193 NCIT_R176 NCIT_C179895 @default.
- NCIT_C128193 NCIT_R176 NCIT_C21281 @default.
- NCIT_C128193 NCIT_R176 NCIT_C25943 @default.
- NCIT_C128193 normalizedInformationContent "100" @default.
- NCIT_C128193 referenceCount "1" @default.
- NCIT_C128193 hasExactSynonym "5-Oxoprolinuria" @default.
- NCIT_C128193 hasExactSynonym "GSSD" @default.
- NCIT_C128193 hasExactSynonym "Glutathione Synthetase Deficiency" @default.
- NCIT_C128193 hasExactSynonym "Pyroglutamic Aciduria" @default.
- NCIT_C128193 inSubset NCIT_C165258 @default.
- NCIT_C128193 inSubset NCIT_C192842 @default.
- NCIT_C128193 type Class @default.
- NCIT_C128193 isDefinedBy ncit.owl @default.
- NCIT_C128193 label "Glutathione Synthetase Deficiency" @default.
- NCIT_C128193 subClassOf B78c2485f0883ff537ea026ad7465df48 @default.
- NCIT_C128193 subClassOf Befe2ba717fff2dd36381c1e8161e3921 @default.
- NCIT_C128193 subClassOf NCIT_C128193 @default.
- NCIT_C128193 subClassOf NCIT_C2991 @default.
- NCIT_C128193 subClassOf NCIT_C3235 @default.
- NCIT_C128193 subClassOf NCIT_C34816 @default.
- NCIT_C128193 subClassOf NCIT_C53529 @default.
- NCIT_C128193 subClassOf NCIT_C53547 @default.
- NCIT_C128193 subClassOf NCIT_C7057 @default.