Retinal Dystrophy With Leukodystrophy
Disease ID: disease_node_17503
Connections displayed (default: 10).
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| Dbxref | MIM:618863 |
|---|---|
| Subclassof | DOID_0050737, DOID_906 |
| Data Source | DOID |
| Synonyms | ACBD5 deficiency |
| Doid Label | retinal dystrophy with leukodystrophy |
| Doid Description | A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17503 |
| Doid Id | DOID_0080946 |
| Label | Retinal Dystrophy With Leukodystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Disorders(ID:disease_node_9830) (Disease)