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- NCIT_C81325 IAO_0000115 "A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase." @default.
- NCIT_C81325 NCIT_NHC0 "C81325" @default.
- NCIT_C81325 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C81325 NCIT_P108 "Transferase Deficiency Galactosemia" @default.
- NCIT_C81325 NCIT_P207 "C0268151" @default.
- NCIT_C81325 NCIT_P322 "NICHD" @default.
- NCIT_C81325 NCIT_P366 "Transferase_Deficient_Galactosemia" @default.
- NCIT_C81325 NCIT_R176 NCIT_C148332 @default.
- NCIT_C81325 NCIT_R176 NCIT_C16612 @default.
- NCIT_C81325 NCIT_R176 NCIT_C21281 @default.
- NCIT_C81325 NCIT_R176 NCIT_C25870 @default.
- NCIT_C81325 NCIT_R176 NCIT_C25871 @default.
- NCIT_C81325 normalizedInformationContent "100" @default.
- NCIT_C81325 referenceCount "1" @default.
- NCIT_C81325 hasExactSynonym "Transferase Deficiency Galactosemia" @default.
- NCIT_C81325 hasExactSynonym "Transferase Deficient Galactosemia" @default.
- NCIT_C81325 hasExactSynonym "Transferase-deficient Galactosemia" @default.
- NCIT_C81325 inSubset NCIT_C89506 @default.
- NCIT_C81325 inSubset NCIT_C90259 @default.
- NCIT_C81325 type Class @default.
- NCIT_C81325 isDefinedBy ncit.owl @default.
- NCIT_C81325 label "Transferase Deficiency Galactosemia" @default.
- NCIT_C81325 subClassOf B718e664fce2fe01628f0221d2dc4e491 @default.
- NCIT_C81325 subClassOf Bd4893f878a638f7cb5dadd565a357bbc @default.
- NCIT_C81325 subClassOf NCIT_C2991 @default.
- NCIT_C81325 subClassOf NCIT_C3235 @default.
- NCIT_C81325 subClassOf NCIT_C34816 @default.
- NCIT_C81325 subClassOf NCIT_C53529 @default.
- NCIT_C81325 subClassOf NCIT_C53547 @default.
- NCIT_C81325 subClassOf NCIT_C7057 @default.
- NCIT_C81325 subClassOf NCIT_C81325 @default.
- NCIT_C81325 subClassOf NCIT_C84723 @default.
- NCIT_C81325 subClassOf NCIT_C97089 @default.