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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:hemolytic anemia due to glutathione synthetase deficiency
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Accession:DOID:0112252 term browser browse the term
Definition:A glutathione synthetase deficiency characterized by hemolitic 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;   Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes;   glutathione synthetase deficiency without 5-oxoprolinuria
 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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hemolytic anemia due to glutathione synthetase deficiency 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 NCBI chr 3:151,076,254...151,106,557
Ensembl chr 3:151,076,254...151,106,557 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      hematopoietic system disease 1797
        anemia 427
          hemolytic anemia 200
            hemolytic anemia due to glutathione synthetase deficiency 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal recessive disease 3441
                hemolytic anemia due to glutathione synthetase deficiency 1
paths to the root