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- NCIT_C173468 IAO_0000115 "An autosomal recessive disorder of creatine synthesis caused by mutations(s) in the GAMT gene on chromosome 19p13, encoding guanidinoacetate N-methyltransferase. It is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids." @default.
- NCIT_C173468 NCIT_NHC0 "C173468" @default.
- NCIT_C173468 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C173468 NCIT_P108 "Cerebral Creatine Deficiency Syndrome 2" @default.
- NCIT_C173468 NCIT_P207 "C0574080" @default.
- NCIT_C173468 NCIT_P322 "Cellosaurus" @default.
- NCIT_C173468 NCIT_R176 NCIT_C16612 @default.
- NCIT_C173468 NCIT_R176 NCIT_C173490 @default.
- NCIT_C173468 NCIT_R176 NCIT_C21281 @default.
- NCIT_C173468 NCIT_R176 NCIT_C25870 @default.
- NCIT_C173468 NCIT_R176 NCIT_C26110 @default.
- NCIT_C173468 normalizedInformationContent "100" @default.
- NCIT_C173468 referenceCount "1" @default.
- NCIT_C173468 hasExactSynonym "CCDS2" @default.
- NCIT_C173468 hasExactSynonym "Cerebral Creatine Deficiency Syndrome 2" @default.
- NCIT_C173468 hasExactSynonym "Guanidinoacetate Methyltransferase Deficiency" @default.
- NCIT_C173468 inSubset NCIT_C165258 @default.
- NCIT_C173468 inSubset NCIT_C192842 @default.
- NCIT_C173468 type Class @default.
- NCIT_C173468 isDefinedBy ncit.owl @default.
- NCIT_C173468 label "Cerebral Creatine Deficiency Syndrome 2" @default.
- NCIT_C173468 subClassOf B1533c0d95923c02175b2f7e0adf63b28 @default.
- NCIT_C173468 subClassOf B9539e9be395aaae830a27d4c9f52c386 @default.
- NCIT_C173468 subClassOf NCIT_C173468 @default.
- NCIT_C173468 subClassOf NCIT_C28193 @default.
- NCIT_C173468 subClassOf NCIT_C2991 @default.
- NCIT_C173468 subClassOf NCIT_C7057 @default.