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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:Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis
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Accession:DOID:9009062 term browser browse the term
Synonyms:exact_synonym: PEERB
 primary_id: OMIM:618331
For additional species annotation, visit the Alliance of Genome Resources.



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Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS ClinVar PMID:21782149 PMID:26467025 PMID:28492532 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS
OMIM
ClinVar
PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30120216 More... NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        muscular disease 1283
          Rhabdomyolysis 24
            Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis 2
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
                Rhabdomyolysis 24
                  Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis 2
paths to the root