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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, Fatal Perinatal
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Accession:DOID:9006655 term browser browse the term
Synonyms:primary_id: MESH:C565541;   RDO:0014149
For additional species annotation, visit the Alliance of Genome Resources.


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GSD IV, Neuromuscular Form, Fatal Perinatal 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 DNA:missense mutations, nonsense mutation, splice site mutation:exons, intron: multiple RGD PMID:30303820 RGD:18337290 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 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        neuromuscular disease 1805
          GSD IV, Neuromuscular Form, Fatal Perinatal 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          inherited metabolic disorder 2238
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  glycogen storage disease IV 3
                    GSD IV, Neuromuscular Form, Fatal Perinatal 1
paths to the root