Term Name: | Peroxisome biogenesis disorder 7B |
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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 PEX26 gene on chromosome 22q11.21. |
Ontology: | Human Disease [DOID:0081436] ( DOID:0081436 ) |