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congenital nonspherocytic hemolytic anemia 7 - Ontology Report - Rat Genome Database

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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 7
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Accession:DOID:0111681 term browser browse the term
Definition:An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. (DO)
Synonyms:exact_synonym: CNSHA7;   gamma-glutamylcysteine synthetase deficiency;   glutamate-cysteine ligase deficiency;   hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
 broad_synonym: GCLC-RELATED CONDITION
 xref: MESH:C565557;   MIM:230450;   MONDO:0009259;   ORDO:33574

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congenital nonspherocytic hemolytic anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gamma-glutamylcysteine synthetase deficiency		 CTD
ClinVar
OMIM		 PMID:5901982 PMID:10515893 PMID:10733484 PMID:25741868 PMID:28492532 NCBI chr 8:87,510,251...87,548,896
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      congenital hemolytic anemia 365
        congenital nonspherocytic hemolytic anemia 73
          congenital nonspherocytic hemolytic anemia 7 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Hemic and Lymphatic Diseases 4328
        hematopoietic system disease 3837
          anemia 865
            normocytic anemia 756
              hemolytic anemia 432
                congenital hemolytic anemia 365
                  congenital nonspherocytic hemolytic anemia 73
                    congenital nonspherocytic hemolytic anemia 7 1
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