| Metadata | |
|---|---|
| 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/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |