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- NCIT_C123415 IAO_0000115 "An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting initially distal limbs and later the neck, orofacial, and craniocervical regions." @default.
- NCIT_C123415 NCIT_NHC0 "C123415" @default.
- NCIT_C123415 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C123415 NCIT_P108 "Autosomal Recessive Torsion Dystonia 2" @default.
- NCIT_C123415 NCIT_P207 "C1857093" @default.
- NCIT_C123415 NCIT_P322 "Cellosaurus" @default.
- NCIT_C123415 NCIT_R100 NCIT_C12219 @default.
- NCIT_C123415 NCIT_R100 NCIT_C12438 @default.
- NCIT_C123415 NCIT_R100 NCIT_C12755 @default.
- NCIT_C123415 NCIT_R100 NCIT_C12919 @default.
- NCIT_C123415 NCIT_R100 NCIT_C13040 @default.
- NCIT_C123415 NCIT_R100 NCIT_C32221 @default.
- NCIT_C123415 NCIT_R176 NCIT_C16612 @default.
- NCIT_C123415 NCIT_R176 NCIT_C20921 @default.
- NCIT_C123415 NCIT_R176 NCIT_C24476 @default.
- NCIT_C123415 normalizedInformationContent "100" @default.
- NCIT_C123415 referenceCount "1" @default.
- NCIT_C123415 hasExactSynonym "Autosomal Recessive Torsion Dystonia 2" @default.
- NCIT_C123415 hasExactSynonym "DYT2" @default.
- NCIT_C123415 hasExactSynonym "Dystonia Musculorum Deformans 2" @default.
- NCIT_C123415 inSubset NCIT_C165258 @default.
- NCIT_C123415 inSubset NCIT_C192842 @default.
- NCIT_C123415 type Class @default.
- NCIT_C123415 isDefinedBy ncit.owl @default.
- NCIT_C123415 label "Autosomal Recessive Torsion Dystonia 2" @default.
- NCIT_C123415 subClassOf B27d13a08753211a5f7e7e83bd8673e97 @default.
- NCIT_C123415 subClassOf B2afc7e8f649ee7295c26f47be72c31b1 @default.
- NCIT_C123415 subClassOf NCIT_C116718 @default.
- NCIT_C123415 subClassOf NCIT_C116757 @default.
- NCIT_C123415 subClassOf NCIT_C123415 @default.
- NCIT_C123415 subClassOf NCIT_C197907 @default.
- NCIT_C123415 subClassOf NCIT_C26835 @default.
- NCIT_C123415 subClassOf NCIT_C27551 @default.
- NCIT_C123415 subClassOf NCIT_C27586 @default.
- NCIT_C123415 subClassOf NCIT_C27588 @default.
- NCIT_C123415 subClassOf NCIT_C2934 @default.
- NCIT_C123415 subClassOf NCIT_C2991 @default.
- NCIT_C123415 subClassOf NCIT_C34563 @default.
- NCIT_C123415 subClassOf NCIT_C35527 @default.
- NCIT_C123415 subClassOf NCIT_C53529 @default.
- NCIT_C123415 subClassOf NCIT_C53531 @default.
- NCIT_C123415 subClassOf NCIT_C7057 @default.