infantile Refsum disease UMLS_CUI:C0282527 NCI:C84789 MESH:D052919 DOID:0050444 disease_ontology SNOMEDCT_US_2025_09_01:238062008 ICD10CM:G60.1 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 mapping confirmed by DO. [SN]. infantile phytanic acid storage disease peroxisomal disease