paroxysmal extreme pain disorder (DOID:0111537)
Alliance: disease page
Synonyms: familial rectal pain; PEPD; PEXPD; submandibular, ocular and rectal pain with flushing
Alt IDs: OMIM:167400, MESH:C563475, NCI:C125385, ORDO:46348, UMLS_CUI:C1833661
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.