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- NCIT_C154316 IAO_0000115 "An autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities." @default.
- NCIT_C154316 NCIT_NHC0 "C154316" @default.
- NCIT_C154316 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C154316 NCIT_P108 "Spinocerebellar Ataxia Type 12" @default.
- NCIT_C154316 NCIT_P207 "C1858501" @default.
- NCIT_C154316 NCIT_P322 "Cellosaurus" @default.
- NCIT_C154316 NCIT_R100 NCIT_C12219 @default.
- NCIT_C154316 NCIT_R100 NCIT_C12438 @default.
- NCIT_C154316 NCIT_R100 NCIT_C12755 @default.
- NCIT_C154316 NCIT_R100 NCIT_C12919 @default.
- NCIT_C154316 NCIT_R100 NCIT_C13040 @default.
- NCIT_C154316 NCIT_R100 NCIT_C32221 @default.
- NCIT_C154316 normalizedInformationContent "100" @default.
- NCIT_C154316 referenceCount "1" @default.
- NCIT_C154316 hasExactSynonym "SCA12" @default.
- NCIT_C154316 hasExactSynonym "Spinocerebellar Ataxia Type 12" @default.
- NCIT_C154316 inSubset NCIT_C165258 @default.
- NCIT_C154316 inSubset NCIT_C192842 @default.
- NCIT_C154316 type Class @default.
- NCIT_C154316 isDefinedBy ncit.owl @default.
- NCIT_C154316 label "Spinocerebellar Ataxia Type 12" @default.
- NCIT_C154316 subClassOf NCIT_C116757 @default.
- NCIT_C154316 subClassOf NCIT_C154316 @default.
- NCIT_C154316 subClassOf NCIT_C26702 @default.
- NCIT_C154316 subClassOf NCIT_C26835 @default.
- NCIT_C154316 subClassOf NCIT_C27090 @default.
- NCIT_C154316 subClassOf NCIT_C27551 @default.
- NCIT_C154316 subClassOf NCIT_C27586 @default.
- NCIT_C154316 subClassOf NCIT_C27588 @default.
- NCIT_C154316 subClassOf NCIT_C2934 @default.
- NCIT_C154316 subClassOf NCIT_C2991 @default.
- NCIT_C154316 subClassOf NCIT_C4802 @default.
- NCIT_C154316 subClassOf NCIT_C53529 @default.
- NCIT_C154316 subClassOf NCIT_C53531 @default.
- NCIT_C154316 subClassOf NCIT_C53547 @default.
- NCIT_C154316 subClassOf NCIT_C7057 @default.
- NCIT_C154316 subClassOf NCIT_C82341 @default.