| Metadata | |
|---|---|
| ID | DOID:0081386 |
| Name | TANGO2-related metabolic encephalopathy and arrythmias |
| 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. https://pubmed.ncbi.nlm.nih.gov/26805782/, https://www.ncbi.nlm.nih.gov/books/NBK476443/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration [EXACT] TANGO2 deficiency [EXACT] |
| Parent Relationships |
is_a syndrome |