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DOID:0081433 - Peroxisome biogenesis disorder 4B
Disease Ontology Definition:A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR.
Synonyms:
Xenbase Genes
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Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee