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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 SCN9A on chromosome 2q24.3. (DO)
Synonyms:exact_synonym: PEPD;   PEXPD;   Pain, Submandibular, Ocular, wnd Rectal, with Flushing;   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
For additional species annotation, visit the Alliance of Genome Resources.



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paroxysmal extreme pain disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Paroxysmal extreme pain disorder ClinVar PMID:25741868 PMID:34298581 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by OMIM:167400
ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL
ClinVar Annotator: match by term: Paroxysmal extreme pain disorder
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15955112 PMID:17145499 PMID:17679678 PMID:18414213 PMID:18518989 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        autonomic nervous system disease 72
          paroxysmal extreme pain disorder 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                paroxysmal extreme pain disorder 2
paths to the root