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Echinobase
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

Echinobase Genes : pex12


MIM:
MIM:266510 - peroxisome biogenesis disorder 3b; pbd3b

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)