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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:glutathione synthetase deficiency of erythrocytes
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Accession:DOID:0112252 term browser browse the term
Definition:A 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: GSSDE;   glutathione synthetase deficiency without 5-oxoprolinuria;   hemolytic anemia due to glutathione synthetase deficiency;   hemolytic anemia due to glutathione synthetase deficiency of erythrocytes
 primary_id: MESH:C565545
 alt_id: DOID:9006583;   OMIM:231900
 xref: ORDO:289849
For additional species annotation, visit the Alliance of Genome Resources.



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glutathione synthetase deficiency of erythrocytes 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 of erythrocytes, hemolytic anemia due to OMIM
ClinVar
PMID:5476481 PMID:8896573 PMID:11167850 PMID:15717202 PMID:25741868 More... NCBI chr 3:144,047,849...144,078,197
Ensembl chr 3:144,047,850...144,078,198
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      hematopoietic system disease 2693
        anemia 637
          normocytic anemia 223
            hemolytic anemia 223
              glutathione synthetase deficiency of erythrocytes 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                glutathione synthetase deficiency of erythrocytes 1
paths to the root