Peroxisome Biogenesis Disorder 4B
Disease ID: disease_node_17524
Connections displayed (default: 10).
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| Dbxref | MIM:614863 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080377, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Peroxisome biogenesis disorder 4B |
| 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 PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_17524 |
| Doid Id | DOID_0081433 |
| Label | Peroxisome Biogenesis Disorder 4B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Biogenesis Disorder(ID:disease_node_17504) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)