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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:glycogen storage disease XV
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Accession:DOID:0050579 term browser browse the term
Definition:A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO)
Synonyms:exact_synonym: GSD XV;   GSD15;   GYG1 deficiency;   glycogen storage disease type XV;   glycogenin deficiency
 primary_id: OMIM:613507
For additional species annotation, visit the Alliance of Genome Resources.



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glycogen storage disease XV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by term: Glycogen storage disease XV OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20357282 PMID:22198226 More... NCBI chr 2:102,611,888...102,653,916
Ensembl chr 2:102,598,496...102,653,797
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                glycogen storage disease XV 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2567
              glycogen metabolism disorder 248
                glycogen storage disease 248
                  glycogen storage disease XV 1
paths to the root