Metadata | |
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ID | DOID:0081434 |
Name | Peroxisome biogenesis disorder 5B |
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 PEX2 gene on chromosome 8q21. https://pubmed.ncbi.nlm.nih.gov/22871920/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |