Peroxisome Biogenesis Disorder 5B
Disease ID: disease_node_17523
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| Dbxref | MIM:614867 |
|---|---|
| Subclassof | DOID_0080377, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Peroxisome biogenesis disorder 5B |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17523 |
| Doid Id | DOID_0081434 |
| Label | Peroxisome Biogenesis Disorder 5B |
- Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Biogenesis Disorder(ID:disease_node_17504) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)