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Refsum's disease

(rĕfsəmz)
n.
  1. A rare inherited metabolic disorder characterized by a buildup of phytanic acid in tissues and a manifestation of such conditions as retinitis pigmentosa, polyneuritis, deafness, and nystagmus.
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The American Heritage® Stedman's Medical Dictionary Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.