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DOID:3687 - MELAS syndrome
Disease Ontology Definition:A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.
Synonyms: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
Echinobase Genes
:
mt-nd1,
mt-co1,
mt-co2,
mt-co3,
mt-nd5,
ND6,
mt-cyb
| MIM:540000 - mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; melas |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mitochondrial encephalomyopathy (is_a)