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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: MIM: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 19050
    physical disorder 5170
      congenital hemolytic anemia 362
        hereditary elliptocytosis 10
          Glyoxalase II Deficiency 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Hemic and Lymphatic Diseases 4041
        hematopoietic system disease 3529
          anemia 859
            normocytic anemia 753
              hemolytic anemia 431
                congenital hemolytic anemia 362
                  hereditary elliptocytosis 10
                    Glyoxalase II Deficiency 1
paths to the root