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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 Syndrome
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Accession:DOID:9007282 term browser browse the term
Synonyms:exact_synonym: Huntington Disease-Like Syndrome;   Huntington Disease-Like Syndromes;   Huntington's Disease Phenocopies;   Huntington's Disease Phenocopy Syndromes;   Huntington's Disease-Like Syndromes
 primary_id: MESH:C580174;   RDO:0015896
For additional species annotation, visit the Alliance of Genome Resources.



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Huntington's Disease-Like Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen2 presenilin 2 ISO ClinVar Annotator: match by term: Huntington disease-like syndrome ClinVar PMID:30279455 NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Huntington's Disease-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          neurodegenerative disease 3521
            Nervous System Heredodegenerative Disorders 2133
              Huntington's Disease-Like Syndrome 1
paths to the root