|
DOID:0081386 - TANGO2-related metabolic encephalopathy and arrythmias
Disease Ontology 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.
Synonyms: TANGO2 deficiency, metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Xenbase Genes
:
tango2
| MIM:616878 - METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)