Peroxisome Biogenesis Disorder 10B
Disease ID: disease_node_17517
Connections displayed (default: 10).
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| Dbxref | MIM:617370 |
|---|---|
| Subclassof | DOID_0080377, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Peroxisome biogenesis disorder 10B |
| 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 compound heterozygous mutation in the PEX3 gene on chromosome 6q24. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17517 |
| Doid Id | DOID_0081440 |
| Label | Peroxisome Biogenesis Disorder 10B |
- 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)