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GENE - TERM ANNOTATION REPORT

RGD ID: 620757
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pex12
Name: peroxisomal biogenesis factor 12
Acc ID: DOID:0050444
Term: infantile Refsum 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. (DO)
Definition Source(s): https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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