Term Name: | peroxisome biogenesis disorder 1B |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081240] ( DOID:0081240 ) |