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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
For additional species annotation, visit the Alliance of Genome Resources.



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:25741868 PMID:28492532 PMID:28733338 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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                muscle tissue disease 832
                  myopathy 666
                    Myopathy, Epilepsy, and Progressive Cerebral Atrophy 1
paths to the root