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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 OMIM:613507
ClinVar Annotator: match by term: Glycogen storage disease XV
OMIM
ClinVar
PMID:20357282 PMID:22198226 PMID:24033266 PMID:25272951 PMID:25741868 PMID:26652229 PMID:27718144 PMID:28453664 PMID:28492532 PMID:29143313 PMID:29264399 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                glycogen storage disease XV 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            carbohydrate metabolic disorder 461
              glycogen metabolism disorder 86
                glycogen storage disease 86
                  glycogen storage disease XV 1
paths to the root