paroxysmal extreme pain disorder

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

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)