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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, Neuromuscular Form, Congenital
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Accession:DOID:9001038 term browser browse the term
Synonyms:primary_id: MESH:C565542;   RDO:0014150
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
GSD IV, Neuromuscular Form, Congenital 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: GSD IV, NEUROMUSCULAR FORM, CONGENITAL ClinVar PMID:8059607 PMID:8613547 PMID:15019703 PMID:15452297 PMID:16528737 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        neuromuscular disease 2199
          GSD IV, Neuromuscular Form, Congenital 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            carbohydrate metabolic disorder 2561
              glycogen metabolism disorder 248
                glycogen storage disease 248
                  glycogen storage disease IV 3
                    GSD IV, Neuromuscular Form, Congenital 1
paths to the root