Term Name: Peroxisome biogenesis disorder 10B
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 compound heterozygous mutation in the PEX3 gene on chromosome 6q24.
Ontology: Human Disease [DOID:0081440]   ( DOID:0081440 )

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