FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term peroxisome biogenesis disorder 1B ID (Ontology) DOID:0081240 (Human Disease)
Definition A peroxisome 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 PEX1 gene on chromosome 7q21.
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 peroxisome biogenesis disorder 1B       2      1
 for disease ribbon | peroxisome biogenesis disorder 1B       --       1
 model of | peroxisome biogenesis disorder 1B       2      1
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autosomal genetic disease
 |__autosomal recessive disease______
peroxisomal disease                  |
 |__peroxisomal biogenesis disorder__|
                                     peroxisome biogenesis disorder 1B  3 rec.
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Is a autosomal recessive disease
peroxisomal biogenesis disorder
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MIM:601539