FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Peroxisome biogenesis disorder 7B ID (Ontology) DOID:0081436 (Human Disease)
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.
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autosomal genetic disease
 |__autosomal recessive disease______
peroxisomal disease                  |
 |__peroxisomal biogenesis disorder__|
                                     Peroxisome biogenesis disorder 7B
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Is a autosomal recessive disease
peroxisomal biogenesis disorder
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MIM:614873