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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


show annotations for term's descendants           Sort by:
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
ClinVar Annotator: match by term: Gsd IV, neuromuscular form, fatal perinatal		 ClinVar
RGD		 PMID:8247964 PMID:10384399 PMID:15452297 PMID:16199547 PMID:20058079 More... RGD:18337290 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        neuromuscular disease 3218
          GSD IV, Neuromuscular Form, Fatal Perinatal 1
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          inherited metabolic disorder 6620
            carbohydrate metabolic disorder 3414
              glycogen metabolism disorder 303
                glycogen storage disease 303
                  glycogen storage disease IV 4
                    GSD IV, Neuromuscular Form, Fatal Perinatal 1
paths to the root