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ONTOLOGY REPORT - ANNOTATIONS


Term:familial episodic pain syndrome 2
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Accession:DOID:0111730 term browser browse the term
Definition:A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. (DO)
Synonyms:exact_synonym: FEPS2
 primary_id: OMIM:615551
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familial episodic pain syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn10a sodium voltage-gated channel alpha subunit 10 JBrowse link 8 128,298,593 128,416,896 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        peripheral nervous system disease 2363
          neuropathy 2179
            familial episodic pain syndrome 3
              familial episodic pain syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                familial episodic pain syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.