| Metadata | |
|---|---|
| ID | DOID:3687 |
| Name | MELAS syndrome |
| 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. https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes |
| Xrefs |
SNOMEDCT_US_2023_03_01:39925003 |
| Subsets |
NCIthesaurus |
| Synonyms |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES [EXACT] |
| Parent Relationships |