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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15599
    Diseases of the Aged 1171
      dementia 618
        Huntington's disease-like 2 1
Path 2
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  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            disease of mental health 5500
              cognitive disorder 1842
                dementia 618
                  Huntington's disease-like 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.