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ID | DOID:0081440 |
Name | Peroxisome biogenesis disorder 10B |
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 compound heterozygous mutation in the PEX3 gene on chromosome 6q24. https://pubmed.ncbi.nlm.nih.gov/22871920/ |
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