Term Name: Peroxisome biogenesis disorder 8B
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 mutation in the PEX16 gene on chromosome 11p11.
Ontology: Human Disease [DOID:0081437]   ( DOID:0081437 )

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