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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:familial episodic pain syndrome 2
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Accession:DOID:0111730 term browser browse the term
Definition:A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. (DO)
Synonyms:exact_synonym: FEPS2
 primary_id: OMIM:615551
For additional species annotation, visit the Alliance of Genome Resources.


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familial episodic pain syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Episodic pain syndrome, familial, 2 OMIM
ClinVar
PMID:23115331 PMID:24998131 PMID:25053638 PMID:25085921 PMID:25741868 PMID:26733327 PMID:28078312 PMID:28166811 PMID:28492532 PMID:29247119 PMID:30135145 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        peripheral nervous system disease 2422
          neuropathy 2233
            familial episodic pain syndrome 3
              familial episodic pain syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              autosomal dominant disease 3756
                familial episodic pain syndrome 2 1
paths to the root