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 1
go back to main search page
Accession:DOID:0111729 term browser browse the term
Definition:A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. (DO)
Synonyms:exact_synonym: FEPS1
 primary_id: OMIM:615040
 xref: ORDO:391389



show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial episodic pain syndrome 1
OMIM
CTD
ClinVar
PMID:20547126 PMID:25741868 PMID:36430572 NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        peripheral nervous system disease 4086
          neuropathy 3871
            familial episodic pain syndrome 3
              familial episodic pain syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal dominant disease 6224
                familial episodic pain syndrome 1 1
paths to the root