Term Name: Peroxisome biogenesis disorder 5B
Synonyms:
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 PEX2 gene on chromosome 8q21.
Ontology: Human Disease [DOID:0081434]   ( DOID:0081434 )

Relationships
is a type of: autosomal recessive disease peroxisomal biogenesis disorder