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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

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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:9215686 PMID:11167850 PMID:15056072 More... NCBI chrNW_004936561:5,765,637...5,793,951
Ensembl chrNW_004936561:5,765,610...5,793,567 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      hematopoietic system disease 2991
        anemia 702
          normocytic anemia 604
            hemolytic anemia 371
              glutathione synthetase deficiency of erythrocytes 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9616
            autosomal genetic disease 8900
              autosomal recessive disease 6226
                glutathione synthetase deficiency of erythrocytes 1
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