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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:Myopathy, Epilepsy, and Progressive Cerebral Atrophy
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Accession:DOID:9003980 term browser browse the term
Synonyms:exact_synonym: MEPCA
 primary_id: OMIM:619036


show annotations for term's descendants           Sort by:
Myopathy, Epilepsy, and Progressive Cerebral Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Myopathy, epilepsy, and progressive cerebral atrophy OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:97,644,489...97,735,246
Ensembl chr 1:96,371,249...96,461,142 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        peripheral nervous system disease 4036
          neuropathy 3845
            neuromuscular disease 3025
              muscular disease 2118
                muscle tissue disease 1274
                  myopathy 986
                    Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
paths to the root