WormBase Tree Display for DO_term: DOID:0081386
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| DOID:0081386 | Name | TANGO2-related metabolic encephalopathy and arrythmias | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | TANGO2 deficiency | |||
| metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 616878 | |
| Attribute_of | Gene_by_orthology | WBGene00011305 | |||
| WBGene00013587 |
