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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

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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 LOC101958945 1,4-alpha-glucan-branching enzyme ISO ClinVar Annotator: match by term: Gsd IV, neuromuscular form, fatal perinatal ClinVar PMID:8247964 PMID:10384399 PMID:15452297 PMID:16199547 PMID:20058079 More... NCBI chrNW_004936505:2,077,206...2,242,079
Ensembl chrNW_004936505:1,974,264...2,241,427 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        neuromuscular disease 2899
          GSD IV, Neuromuscular Form, Fatal Perinatal 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            carbohydrate metabolic disorder 2562
              glycogen metabolism disorder 253
                glycogen storage disease 253
                  glycogen storage disease IV 4
                    GSD IV, Neuromuscular Form, Fatal Perinatal 1
paths to the root