Human genes for paroxysmal extreme pain disorder
Paroxysmal extreme pain disorder [DOID:0111537]
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 SCN9A on chromosome 2q24.3.
Synonyms: paroxysmal extreme pain disorder, DOID:0111537, paroxysmal extreme pain disease, paroxysmal extreme pain syndrome, paroxysmal extreme pain disorders ...