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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



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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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20547126 PMID:25741868 PMID:36430572 NCBI chr 1:14,942,868...14,989,086
Ensembl chr 1:14,942,872...14,989,086
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 channel, voltage-gated, type X, alpha ISO ClinVar Annotator: match by term: Episodic pain syndrome, familial, 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:23115331 PMID:24820863 PMID:24998131 More... NCBI chr 9:119,437,522...119,548,388
Ensembl chr 9:119,437,522...119,548,388
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 channel, voltage-gated, type XI, alpha ISO
IAGP
OMIM:615552
ClinVar Annotator: match by term: Episodic pain syndrome, familial, 3
CTD Direct Evidence: marker/mechanism
OMIM
MouseDO
ClinVar
CTD
PMID:24207120 PMID:24776970 PMID:25741868 PMID:25791876 PMID:28298626 More... NCBI chr 9:119,582,829...119,654,522
Ensembl chr 9:119,582,825...119,654,522
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18295
    disease of anatomical entity 15606
      nervous system disease 13461
        peripheral nervous system disease 4085
          neuropathy 3885
            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