FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term paroxysmal extreme pain disorder ID (Ontology) DOID:0111537 (Human Disease)
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.
Also Known As "familial rectal pain" ; "PEPD" ; "PEXPD" (for all, see Synonyms field below)
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 Genes
 paroxysmal extreme pain disorder       1
 for disease ribbon | paroxysmal extreme pain disorder       1
 model of | paroxysmal extreme pain disorder       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease________
peripheral nervous system disease     |
 |__autonomic nervous system disease__|
                                      paroxysmal extreme pain disorder  1 rec.
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Is a autosomal dominant disease
autonomic nervous system disease
Part of
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Synonyms
  • "familial rectal pain" EXACT
    "PEPD" EXACT OMO:0003012
    "PEXPD" EXACT OMO:0003012
    "submandibular, ocular and rectal pain with flushing" EXACT
Secondary IDs
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GARD:12854
MESH:C563475
MIM:167400
NCI:C125385
ORDO:46348
SNOMEDCT_US_2023_03_01:699190008
UMLS_CUI:C1833661