Term Name: | paroxysmal extreme pain disorder |
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Synonyms: | familial rectal pain, PEPD, PEXPD, submandibular, ocular and rectal pain with flushing |
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. |
Ontology: | Human Disease [DOID:0111537] ( DOID:0111537 ) |