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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;   JPH3-RELATED CONDITION
 primary_id: MESH:C564708
 alt_id: MIM:606438
 xref: ORDO:98934


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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 | ClinVar Annotator: match by term: JPH3-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr19:66,702,497...66,763,948
Ensembl chr19:49,793,092...49,855,338 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    Diseases of the Aged 1479
      dementia 879
        Huntington's disease-like 2 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        central nervous system disease 12645
          brain disease 11865
            movement disease 2633
              Dyskinesias 2232
                choreatic disease 470
                  Huntington's disease-like 2 1
paths to the root