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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:GSD IV, combined hepatic and myopathic
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Accession:DOID:9006915 term browser browse the term
Synonyms:exact_synonym: glycogen storage disease IV, combined hepatic and myopathic
 primary_id: RDO:9000326
For additional species annotation, visit the Alliance of Genome Resources.


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GSD IV, combined hepatic and myopathic term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IV, combined hepatic and myopathic ClinVar PMID:10545044 PMID:10762170 PMID:12874416 PMID:15452297 PMID:20479904 PMID:28492532 NCBI chr11:7,210,169...7,485,895
Ensembl chr11:7,210,209...7,485,890
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        inherited metabolic disorder 2235
          carbohydrate metabolic disorder 399
            glycogen metabolism disorder 83
              glycogen storage disease 83
                glycogen storage disease IV 3
                  GSD IV, combined hepatic and myopathic 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              glycogen metabolism disorder 83
                glycogen storage disease 83
                  glycogen storage disease IV 3
                    GSD IV, combined hepatic and myopathic 1
paths to the root