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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:paroxysmal extreme pain disorder
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Accession:DOID:0111537 term browser browse the term
Definition:An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. (DO)
Synonyms:exact_synonym: PEPD;   PEXPD;   familial rectal pain;   submandibular, ocular, and rectal pain with flushing
 primary_id: MESH:C563475
 alt_id: OMIM:167400
 xref: GARD:12854;   NCI:C125385;   ORDO:46348


show annotations for term's descendants           Sort by:
paroxysmal extreme pain disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Paroxysmal extreme pain disorder ClinVar PMID:25741868 PMID:34298581 NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal extreme pain disorder | ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL		 OMIM
CTD
ClinVar		 PMID:15955112 PMID:17145499 PMID:17679678 PMID:18414213 PMID:18518989 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        autonomic nervous system disease 72
          paroxysmal extreme pain disorder 2
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal dominant disease 6266
                paroxysmal extreme pain disorder 2
paths to the root