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Metadata
ID	DOID:0081433
Name	Peroxisome biogenesis disorder 4B
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. https://pubmed.ncbi.nlm.nih.gov/22871920/
Xrefs	MIM:614863
Parent Relationships	is_a autosomal dominant disease is_a peroxisomal biogenesis disorder is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance