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Summary Literature (0)
DOID:0050444 - infantile Refsum disease

Disease Ontology 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.

Synonyms: infantile phytanic acid storage disease,

Xenbase Genes : pex26, pex1, pex12, pex2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009959 - peroxisome biogenesis disorder type 3B


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): peroxisomal disease (is_a)