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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 alt_id: OMIM:606438
 xref: ORDO:98934
For additional species annotation, visit the Alliance of Genome Resources.



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Huntington's disease-like 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Huntington disease-like 2 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Diseases of the Aged 1319
      dementia 736
        Huntington's disease-like 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            movement disease 1690
              Dyskinesias 1344
                choreatic disease 398
                  Huntington's disease-like 2 1
paths to the root