Childhood-Onset Dystonia With Optic Atrophy And Basal Ganglia Abnormalities
Disease ID: disease_node_14355
Connections displayed (default: 10).
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| Dbxref | GARD:13488, MIM:617282, ORDO:508093 |
|---|---|
| Subclassof | DOID_543, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DYSTONIA 29, CHILDHOOD-ONSET, DYTOABG, MECR-related neurologic disorder, MEPAN syndrome, Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration |
| Doid Label | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities |
| Doid Description | A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. |
| Existence Starts During | HP_0011463 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_14355 |
| Doid Id | DOID_0081419 |
| Label | Childhood-Onset Dystonia With Optic Atrophy And Basal Ganglia Abnormalities |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Dystonia(ID:disease_node_2684) (Disease)