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Term:Huntington's disease-like 2
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Accession:DOID:0090104 term browser browse the term
Definition:A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (DO)
Synonyms:exact_synonym: HDL2;   Huntington Disease-Like 2
 primary_id: MESH:C564708;   RDO:0013578
 alt_id: OMIM:606438
 xref: ORDO:98934
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Huntington's disease-like 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jph3 junctophilin 3 JBrowse link 19 54,553,419 54,613,477 RGD:7240710

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Path 1
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  disease 15553
    Diseases of the Aged 1172
      dementia 619
        Huntington's disease-like 2 1
Path 2
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  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              cognitive disorder 1846
                dementia 619
                  Huntington's disease-like 2 1
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