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- NCIT_C99081 IAO_0000115 "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly." @default.
- NCIT_C99081 NCIT_NHC0 "C99081" @default.
- NCIT_C99081 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C99081 NCIT_P108 "Arakawa Syndrome II" @default.
- NCIT_C99081 NCIT_P207 "C0268611" @default.
- NCIT_C99081 NCIT_P322 "Cellosaurus" @default.
- NCIT_C99081 NCIT_P322 "NICHD" @default.
- NCIT_C99081 NCIT_R176 NCIT_C104946 @default.
- NCIT_C99081 NCIT_R176 NCIT_C16612 @default.
- NCIT_C99081 NCIT_R176 NCIT_C21281 @default.
- NCIT_C99081 NCIT_R176 NCIT_C25870 @default.
- NCIT_C99081 NCIT_R176 NCIT_C26110 @default.
- NCIT_C99081 normalizedInformationContent "100" @default.
- NCIT_C99081 referenceCount "1" @default.
- NCIT_C99081 hasExactSynonym "Arakawa Syndrome II" @default.
- NCIT_C99081 hasExactSynonym "Arakawa's Syndrome 2" @default.
- NCIT_C99081 hasExactSynonym "Arakawa's Syndrome II" @default.
- NCIT_C99081 hasExactSynonym "Homocystinuria-Megaloblastic Anemia, cblG Complementation Type" @default.
- NCIT_C99081 hasExactSynonym "Methionine Synthase Deficiency" @default.
- NCIT_C99081 hasExactSynonym "Methylcobalamin Deficiency, cblG Type" @default.
- NCIT_C99081 hasExactSynonym "Tetrahydrofolate Methyltransferase Deficiency" @default.
- NCIT_C99081 inSubset NCIT_C165258 @default.
- NCIT_C99081 inSubset NCIT_C192842 @default.
- NCIT_C99081 inSubset NCIT_C90259 @default.
- NCIT_C99081 inSubset NCIT_C99147 @default.
- NCIT_C99081 type Class @default.
- NCIT_C99081 isDefinedBy ncit.owl @default.
- NCIT_C99081 label "Arakawa Syndrome II" @default.
- NCIT_C99081 subClassOf B50c08b2a39daaa49e283b631345d7714 @default.
- NCIT_C99081 subClassOf B77cb35307bb13f010c9b8d614cf2f441 @default.
- NCIT_C99081 subClassOf NCIT_C28193 @default.
- NCIT_C99081 subClassOf NCIT_C2991 @default.
- NCIT_C99081 subClassOf NCIT_C3235 @default.
- NCIT_C99081 subClassOf NCIT_C34816 @default.
- NCIT_C99081 subClassOf NCIT_C4873 @default.
- NCIT_C99081 subClassOf NCIT_C53529 @default.
- NCIT_C99081 subClassOf NCIT_C53543 @default.
- NCIT_C99081 subClassOf NCIT_C53547 @default.
- NCIT_C99081 subClassOf NCIT_C7057 @default.
- NCIT_C99081 subClassOf NCIT_C84765 @default.
- NCIT_C99081 subClassOf NCIT_C97090 @default.
- NCIT_C99081 subClassOf NCIT_C99081 @default.