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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:Channelopathies
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Accession:DOID:9003516 term browser browse the term
Definition:A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS.
Synonyms:exact_synonym: Channelopathy
 primary_id: MESH:D053447


show annotations for term's descendants           Sort by:
Channelopathies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Channelopathy ClinVar NCBI chr 2:215,378,028...215,954,015
Ensembl chr 2:215,379,680...215,862,923 		JBrowse link
Congenital Indifference to Pain, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:15955112 PMID:17167479 PMID:17470132 PMID:18414213 PMID:18518989 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Pathologic Processes 8240
        Channelopathies 2
          Congenital Indifference to Pain, Autosomal Recessive 1
paths to the root