has part has part has_part realized in realized in metabolic process disease course Rare hereditary ataxia Rare hereditary metabolic disease with peripheral neuropathy Autosomal ichthyosis syndrome with prominent neurologics signs Refsum disease Refsum disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leucodystrophic diseases. orphanet UMLS:C0034960 OMIM:614879 MESH:D012035 ICD10:G60.1 Heredopathia atactica polyneuritiformis Phytanic acid oxidase deficiency MedDRA:10038275 HMSN 4 Hereditary motor and sensory neuropathy type 4 OMIM:266500 Early-onset ataxia with dementia Cataract associated with a metabolic disease Spinocerebellar ataxia with oculomotor anomaly Metabolic disease with pigmentary retinitis