C125383Level 7
Primary Erythromelalgia
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation(s) in the SCN9A gene, encoding sodium channel protein type 9 subunit alpha. It is characterized by episodes of recurrent warmth, redness, and burning sensations in the extremities.
**Synonyms:** - PERYTHM - Primary Erythermalgia
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