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ONTOLOGY REPORT - ANNOTATIONS


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
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paroxysmal extreme pain disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:7240710
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15851
    disease of anatomical entity 15243
      nervous system disease 10713
        autonomic nervous system disease 60
          paroxysmal extreme pain disorder 1
Path 2
Term Annotations click to browse term
  disease 15851
    Developmental Diseases 9270
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8085
        genetic disease 7598
          monogenic disease 5251
            autosomal genetic disease 4215
              autosomal dominant disease 2598
                paroxysmal extreme pain disorder 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.