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Term:familial episodic pain syndrome 1
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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
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familial episodic pain syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 JBrowse link 5 3,783,247 3,836,485 RGD:7240710

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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 1 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 1 1
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