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DO Term : TANGO2-related metabolic encephalopathy and arrythmias [DOID:0081386] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • 616878,
  • ORDO:480864,
  • OMIM:616878,
  • GARD:13423,
  • TANGO2 deficiency,
  • metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
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