loading...| Preferred Name |
MELAS syndrome |
| Synonyms |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_3687 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
NCI:C84885 OMIM:540000 MESH:D017241 ICD10CM:E88.41 SNOMEDCT_US_2022_09_01:39925003 UMLS_CUI:C0162671 |
| 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. |
| has exact synonym |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES |
| has symptom |
http://purl.obolibrary.org/obo/SYMP_0000504 http://purl.obolibrary.org/obo/SYMP_0000124 http://purl.obolibrary.org/obo/SYMP_0000293 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:3687 |
| in_subset | |
| label |
MELAS syndrome |
| notation |
DOID:3687 |
| prefLabel |
MELAS syndrome |
| subClassOf |