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Refsum disease
Used for:
heredopathia atactica polyneuritiformis
Used for:
HMSN type IV
Used for:
phytanic acidemia
Broader Terms:
hereditary motor and sensory neuropathy
Broader Terms:
inborn lipid storage disorder
Related Terms:
autosomal recessive trait
Scope Note:
autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid.
Term Number:
2042-7949
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