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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:congenital nonspherocytic hemolytic anemia 6
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Accession:DOID:0112252 term browser browse the term
Definition:A congenital nonspherocytic hemolytic anemia a mild form of glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. (DO)
Synonyms:exact_synonym: CNSHA6;   GSSDE;   glutathione synthetase deficiency of erythrocytes;   glutathione synthetase deficiency without 5-oxoprolinuria;   hemolytic anemia due to glutathione synthetase deficiency;   hemolytic anemia due to glutathione synthetase deficiency of erythrocytes
 alt_id: DOID:9006583
 xref: MESH:C565545;   MIM:231900;   MONDO:0009284;   ORDO:289849


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congenital nonspherocytic hemolytic anemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gss glutathione synthetase ISO ClinVar Annotator: match by term: Glutathione synthetase deficiency without 5-oxoprolinuria OMIM
ClinVar		 PMID:5476481 PMID:8896573 PMID:9215686 PMID:10369661 PMID:10861239 More... NCBI chr 3:164,508,005...164,538,343
Ensembl chr 3:164,508,005...164,538,306 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital hemolytic anemia 365
        congenital nonspherocytic hemolytic anemia 73
          congenital nonspherocytic hemolytic anemia 6 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          anemia 865
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital nonspherocytic hemolytic anemia 73
                    congenital nonspherocytic hemolytic anemia 6 1
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