Term Name: peroxisome biogenesis disorder 1B
Synonyms:
Definition: A peroxisome 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 PEX1 gene on chromosome 7q21.
Ontology: Human Disease [DOID:0081240]   ( DOID:0081240 )

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