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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;   RDO:0007619
For additional species annotation, visit the Alliance of Genome Resources.


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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: Channelopathies ClinVar NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
Indifference to Pain, Congenital, 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 ClinVar Annotator: match by OMIM:243000
ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive
OMIM
ClinVar
PMID:15955112, PMID:17167479, PMID:17470132, PMID:18414213, PMID:18518989, PMID:19369487, PMID:19763161, PMID:21094958, PMID:21698661, PMID:21939494, PMID:22035805, PMID:22136189, PMID:22539570, PMID:22604722, PMID:22826602, PMID:22995991, PMID:23129781, PMID:23280954, PMID:23292638, PMID:23450472, PMID:23874707, PMID:23895530, PMID:24033266, PMID:24088041, PMID:24776970, PMID:24817410, PMID:24820863, PMID:24848745, PMID:25250524, PMID:25253744, PMID:25316021, PMID:25326635, PMID:25333069, PMID:25741868, PMID:25852444, PMID:25993546, PMID:26264438, PMID:26284228, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26675522, PMID:26920677, PMID:27504264, PMID:27843123, PMID:27884173, PMID:27956748, PMID:28073787, PMID:28235406, PMID:28440294, PMID:28492532, PMID:29176367, PMID:29264398, PMID:29358611, PMID:29500686, PMID:29911575, PMID:30311386, PMID:30316835, PMID:30642272, PMID:30834459 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Channelopathies 2
          Indifference to Pain, Congenital, Autosomal Recessive 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.