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ENRefsum Disease, Classic (RD)
Alias:
Refsum Disease
Heredopathia Atactica Polyneuritiformis
Classic Refsum Disease
Adult Refsum Disease
Hmsn Iv
Phytanic Acid Oxidase Deficiency
Hereditary Motor and Sensory Neuropathy Type Iv
Phytanic Acid Storage Disease
Refsum Disease, Adult, 1
Refsum's Disease
Hereditary Motor and Sensory Neuropathy Type 4
Hereditary Motor and Sensory Neuropathy Iv
Phytanic-Coa Hydroxylase Deficiency
Refsum Syndrome
Hmsn Type Iv
Hmsn 4
Hmsn4
Refsum Disease, Adult
Hsmn Iv
Crd
Ard
Rd
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Refsum Disease, Classic, also known as refsum disease, is related to peroxisome biogenesis disorder 2b and zellweger spectrum disorder. An important gene associated with Refsum Disease, Classic is PHYH (Phytanoyl-CoA 2-Hydroxylase), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Cholic Acids and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are abnormal pyramidal sign and ataxia
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MALACARDS
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