Tango2-Related Metabolic Encephalopathy And Arrythmias
Disease ID: disease_node_20276
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| Dbxref | GARD:13423, MIM:616878, ORDO:480864 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | TANGO2 deficiency, metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
| Doid Label | TANGO2-related metabolic encephalopathy and arrythmias |
| Doid Description | A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20276 |
| Doid Id | DOID_0081386 |
| Label | Tango2-Related Metabolic Encephalopathy And Arrythmias |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)