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RGD uses the Human Disease Ontology (DO, 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:glycogen storage disease VI
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Accession:DOID:2754 term browser browse the term
Definition:A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.
Synonyms:exact_synonym: GSD VI;   GSD6;   Glycogenosis 6;   Glycogenosis Type VI;   Glycogenosis VI;   Hepatic Glycogen Phosphorylase Deficiency;   Her Disease;   Hers Disease;   Liver Phosphorylase Deficiency Syndrome;   PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER;   glycogen storage disease type VI;   hepatophosphorylase deficiency glycogenosis
 primary_id: MESH:D006013;   RDO:0005683
 alt_id: OMIM:232700
 xref: NCI:C126875;   ORDO:369
For additional species annotation, visit the Alliance of Genome Resources.

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glycogen storage disease VI term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYGL glycogen phosphorylase L IAGP
ClinVar Annotator: match by term: Glycogen storage disease, type VI
CTD Direct Evidence: marker/mechanism
PMID:9529348, PMID:9536091, PMID:12809646, PMID:17705025, PMID:21646031, PMID:22899091, PMID:24033266, PMID:25266922, PMID:25741868, PMID:28492532, PMID:17705025, PMID:21646031 RGD:11071447, RGD:21079734 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      endocrine system disease 0
        liver disease 2464
          glycogen storage disease VI 1
Path 2
Term Annotations click to browse term
  disease 18864
    Developmental Diseases 12169
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10001
        genetic disease 9471
          inherited metabolic disorder 2443
            carbohydrate metabolic disorder 461
              glycogen metabolism disorder 86
                glycogen storage disease 86
                  glycogen storage disease VI 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.