disease has major feature Leukoencephalopathy adult Refsum disease https://rarediseases.info.nih.gov/diseases/5691/refsum-disease https://www.malacards.org/card/refsum_disease_classic HSMN IV UMLS:C0034960 MESH:C535517 GARD:0005691 DOID:10582 Refsum Disease hypertrophic neuropathy of Refsum hereditary motor and sensory neuropathy type 4 SCTID:25362006 ICD9CM:356.3 OMIM:600964 DOC 11 (phytanic acid type) phytanic acid oxidase deficiency OMIM:266500 Refsum disease Refsum disease, adult, 1 MEDGEN:11161 heredopathia atactica polyneuritiformis adult Refsum disease due to PHYH HMSN 4 A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. hereditary motor and sensory neuropathy 4 Refsum disease with increased pipecolic acidemia MESH:D012035 Refsum disease, classic disorder of cornification 11 (phytanic acid type) adult Refsum disease RDPA MONDO:0009958 NANDO:2200577 NORD:1654 Orphanet:773 hereditary sensory and motor neuropathy type 4 HMSN type IV NANDO:1200769 classic Refsum disease MedDRA:10038275 phytanic-CoA hydroxylase deficiency ICD10CM:G60.1 ICD9:272.8 Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 Refsum's disease autosomal recessive congenital ichthyosis obsolete autosomal ichthyosis syndrome with prominent neurologics signs obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation leukodystrophy autosomal recessive metabolic cerebellar ataxia hereditary peripheral neuropathy obsolete cataract associated with a metabolic disease obsolete metabolic disease with pigmentary retinitis phytanoyl-CoA hydroxylase deficiency