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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
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Accession:DOID:0111728 term browser browse the term
Definition:A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. (DO)
Synonyms:exact_synonym: FEPS
 xref: GARD:12684;   OMIM:PS615040;   ORDO:391384
For additional species annotation, visit the Alliance of Genome Resources.


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familial episodic pain syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 ISO ClinVar Annotator: match by term: Familial episodic pain syndrome 1 OMIM
ClinVar
PMID:20547126 PMID:25741868 NCBI chr 5:3,783,247...3,836,485
Ensembl chr 5:3,783,247...3,836,485
JBrowse link
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
JBrowse link
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 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            familial episodic pain syndrome 3
              familial episodic pain syndrome 1 1
              familial episodic pain syndrome 2 1
              familial episodic pain syndrome 3 1
paths to the root