Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 3
go back to main search page
Accession:DOID:0111731 term browser browse the term
Definition:A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)
Synonyms:exact_synonym: FEPS3
 primary_id: OMIM:615552
 xref: NCI:C125390;   ORDO:391392
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
familial episodic pain syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by OMIM:615552
ClinVar Annotator: match by term: Episodic pain syndrome, familial, 3
OMIM
ClinVar
PMID:24207120 PMID:24776970 PMID:25741868 PMID:28166811 PMID:28298626 PMID:28492532 PMID:29213238 PMID:30046661 PMID:30557356 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link

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 3 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 3 1
paths to the root