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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 PGK1 on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: GSD due to phosphoglycerate kinase 1 deficiency;   PGK Deficiency;   PGK1 Deficiency;   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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by OMIM:300653
ClinVar Annotator: match by term: Phosphoglycerate kinase 1 deficiency
OMIM
ClinVar
PMID:411673 PMID:1547346 PMID:1586722 PMID:2001457 PMID:3840329 More... NCBI chr  X:71,271,454...71,287,429
Ensembl chr  X:71,271,440...71,287,418
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          phosphoglycerate kinase 1 deficiency 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            X-linked monogenic disease 1022
              X-linked recessive disease 381
                phosphoglycerate kinase 1 deficiency 1
paths to the root