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Summary Literature (0)
DOID:0111537 - paroxysmal extreme pain disorder


Disease Ontology 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.

Synonyms: familial rectal pain, PEPD, PEXPD, submandibular, ocular and rectal pain with flushing

Xenbase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autonomic nervous system disease (is_a), autosomal dominant disease (is_a)