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- NCIT_C114767 IAO_0000115 "An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life." @default.
- NCIT_C114767 NCIT_NHC0 "C114767" @default.
- NCIT_C114767 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C114767 NCIT_P108 "Galactokinase Deficiency" @default.
- NCIT_C114767 NCIT_P207 "C0268155" @default.
- NCIT_C114767 NCIT_P322 "Cellosaurus" @default.
- NCIT_C114767 NCIT_R176 NCIT_C16612 @default.
- NCIT_C114767 NCIT_R176 NCIT_C190406 @default.
- NCIT_C114767 NCIT_R176 NCIT_C21281 @default.
- NCIT_C114767 NCIT_R176 NCIT_C25870 @default.
- NCIT_C114767 NCIT_R176 NCIT_C25871 @default.
- NCIT_C114767 normalizedInformationContent "100" @default.
- NCIT_C114767 referenceCount "1" @default.
- NCIT_C114767 hasExactSynonym "GALK Deficiency" @default.
- NCIT_C114767 hasExactSynonym "Galactokinase Deficiency" @default.
- NCIT_C114767 hasExactSynonym "Galactosemia Type 2" @default.
- NCIT_C114767 inSubset NCIT_C165258 @default.
- NCIT_C114767 inSubset NCIT_C192842 @default.
- NCIT_C114767 type Class @default.
- NCIT_C114767 isDefinedBy ncit.owl @default.
- NCIT_C114767 label "Galactokinase Deficiency" @default.
- NCIT_C114767 subClassOf B222f4ded0a7d103e29721215dee646b5 @default.
- NCIT_C114767 subClassOf B9e2e63ed3cd53d6b860f3c338618a636 @default.
- NCIT_C114767 subClassOf NCIT_C114767 @default.
- NCIT_C114767 subClassOf NCIT_C2991 @default.
- NCIT_C114767 subClassOf NCIT_C3235 @default.
- NCIT_C114767 subClassOf NCIT_C34816 @default.
- NCIT_C114767 subClassOf NCIT_C53529 @default.
- NCIT_C114767 subClassOf NCIT_C53547 @default.
- NCIT_C114767 subClassOf NCIT_C7057 @default.
- NCIT_C114767 subClassOf NCIT_C84723 @default.
- NCIT_C114767 subClassOf NCIT_C97089 @default.