Peroxisome Biogenesis Disorder 1B
Disease ID: disease_node_17527
Connections displayed (default: 10).
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| Dbxref | MIM:601539 |
|---|---|
| Subclassof | DOID_0080377, DOID_0050737 |
| Data Source | DOID |
| Doid Label | peroxisome biogenesis disorder 1B |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17527 |
| Doid Id | DOID_0081240 |
| Label | Peroxisome Biogenesis Disorder 1B |
- 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)