Term Name: paroxysmal extreme pain disorder
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 )

Relationships
is a type of: autonomic nervous system disease autosomal dominant disease