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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 2:209,368,285...209,445,425
Ensembl chr 2:209,368,312...209,445,431
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        central nervous system disease 12373
          brain disease 11610
            Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        peripheral nervous system disease 4087
          neuropathy 3872
            neuromuscular disease 3048
              muscular disease 2136
                muscle tissue disease 1283
                  myopathy 996
                    Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
paths to the root