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infantile Refsum disease
Summary
- Synonym
-
- infantile phytanic acid storage disease
- Definition
- 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.
- Super Class
- peroxisomal disease
External Links
- Disease Ontology
- DOID:0050444
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
