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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:Glyoxalase II Deficiency
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Accession:DOID:9000559 term browser browse the term
Synonyms:exact_synonym: hydroxyacyl glutathione hydrolase deficiency
 primary_id: MESH:C564215
 alt_id: OMIM:614033
For additional species annotation, visit the Alliance of Genome Resources.



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Glyoxalase II Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hagh hydroxyacyl glutathione hydrolase ISO OMIM NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    physical disorder 3130
      congenital hemolytic anemia 159
        hereditary elliptocytosis 11
          Glyoxalase II Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Hemic and Lymphatic Diseases 2394
        hematopoietic system disease 1969
          anemia 448
            normocytic anemia 205
              hemolytic anemia 205
                congenital hemolytic anemia 159
                  hereditary elliptocytosis 11
                    Glyoxalase II Deficiency 1
paths to the root