Mitchell Syndrome
Disease ID: disease_node_17531
Connections displayed (default: 10).
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| Dbxref | MIM:618960, ORDO:631248, UMLS_CUI:C5394554 |
|---|---|
| Subclassof | DOID_0050736, DOID_906 |
| Data Source | DOID |
| Doid Label | Mitchell syndrome |
| Doid Description | A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. Mitchell syndrome appears to be the result of gain-of-function variants in the ACOX1 gene that increase reactive oxygen species production without altering very-long-chain fatty acid production. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17531 |
| Doid Id | DOID_0070516 |
| Label | Mitchell Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Peroxisomal Disorders(ID:disease_node_9830) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)