Term Name: Peroxisome biogenesis disorder 11B
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 PEX13 gene on chromosome 2p15.
Ontology: Human Disease [DOID:0081439]   ( DOID:0081439 )

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