infantile Refsum disease UMLS_CUI:C0282527 OMIM mapping confirmed by DO. [SN]. NCI:C84789 MESH:D052919 A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. OMIM:266510 DOID:0050444 SNOMEDCT_US_2020_03_01:238062008 disease_ontology ICD10CM:G60.1 infantile phytanic acid storage disease peroxisomal disease