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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, Variant B1
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Accession:DOID:9003240 term browser browse the term
Synonyms:related_synonym: HEXA, Czechoslovakian Allele
 primary_id: MESH:C564785


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        lipid metabolism disorder 1831
          lipid storage disease 814
            sphingolipidosis 175
              gangliosidosis 54
                GM2 gangliosidosis 50
                  Tay-Sachs disease 28
                    Tay-Sachs Disease, Variant B1 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            Metabolic Brain Diseases 1856
              Metabolic Brain Diseases, Inborn 1687
                Lysosomal Storage Diseases, Nervous System 226
                  sphingolipidosis 175
                    gangliosidosis 54
                      GM2 gangliosidosis 50
                        Tay-Sachs disease 28
                          Tay-Sachs Disease, Variant B1 1
paths to the root