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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


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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    physical disorder 4953
      congenital hemolytic anemia 347
        hereditary elliptocytosis 10
          Glyoxalase II Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      Hemic and Lymphatic Diseases 3848
        hematopoietic system disease 3339
          anemia 782
            normocytic anemia 675
              hemolytic anemia 417
                congenital hemolytic anemia 347
                  hereditary elliptocytosis 10
                    Glyoxalase II Deficiency 1
paths to the root