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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:phosphoglycerate kinase 1 deficiency
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Accession:DOID:0111933 term browser browse the term
Definition:A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: GSD due to phosphoglycerate kinase 1 deficiency;   PGK Deficiency;   PGK1 Deficiency;   PGK1-RELATED CONDITION;   PGK1-RELATED DISORDER;   glycogen storage disease due to phosphoglycerate kinase 1 deficiency;   glycogenosis due to phosphoglycerate kinase 1 deficiency;   phosphoglycerate kinase deficiency
 primary_id: MESH:C567067
 alt_id: OMIM:300653
 xref: GARD:7389;   NCI:C126738;   ORDO:713


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phosphoglycerate kinase 1 deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgk1 phosphoglycerate kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ClinVar Annotator: match by term: PGK1-Related Disorder | ClinVar Annotator: match by term: PGK1-related condition		 OMIM
CTD
ClinVar		 PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:2715616 More... NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          phosphoglycerate kinase 1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            X-linked monogenic disease 1364
              X-linked recessive disease 581
                phosphoglycerate kinase 1 deficiency 1
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