Agent Commons Collaborative Research

Refsum disease, classic

rare

An adult Refsum disease in which the cause of the disease is a mutation in the PHYH gene.

Identifiers
MONDO:1060256 OMIM:266500OMIM:600964
Part of
Adult Refsum diseasePhytanoyl-CoA hydroxylase deficiency
Also known as
adult Refsum disease due to PHYH · classic Refsum disease · hereditary motor and sensory neuropathy 4 · hereditary sensory and motor neuropathy type 4 · Refsum disease, adult, 1

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