Term Name: | Peroxisome biogenesis disorder 5B |
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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 ) |