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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:Tay-Sachs Disease, Juvenile
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Accession:DOID:9001497 term browser browse the term
Synonyms:primary_id: MESH:C564782


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Tay-Sachs Disease, Juvenile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-sachs disease, juvenile ClinVar PMID:1301189 PMID:25741868 NCBI chr 8:59,936,526...59,961,654
Ensembl chr 8:59,936,660...59,962,013 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          lipid storage disease 830
            sphingolipidosis 149
              gangliosidosis 42
                GM2 gangliosidosis 39
                  Tay-Sachs disease 24
                    Tay-Sachs Disease, Juvenile 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Lysosomal Storage Diseases, Nervous System 177
                  sphingolipidosis 149
                    gangliosidosis 42
                      GM2 gangliosidosis 39
                        Tay-Sachs disease 24
                          Tay-Sachs Disease, Juvenile 1
paths to the root