loading...| Preferred Name | MELAS syndrome | |
| Synonyms |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes MELAS |
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| 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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_3687 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
UMLS_CUI:C0162671 MESH:D017241 ICD10CM:E88.41 OMIM:540000 SNOMEDCT_US_2018_03_01:39925003 NCI:C84885 |
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| fromEpSO | ||
| fromILAE |
true |
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| has exact synonym |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes MELAS |
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| has_obo_namespace |
disease_ontology |
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| hasDefinition |
MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) frequently leads to seizures, especially during acute stroke-like episodes where focal seizures arise in the involved cortical areas. Epilepsia partialis continua may occur. |
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| id |
DOID:3687 |
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| imported from | ||
| in subset | ||
| label |
MELAS syndrome |
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| notation |
DOID:3687 |
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| prefLabel |
MELAS syndrome |
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| see also |
http://www.case.edu/EpSO.owl#MitochondrialEncephalomyopathyLacticAcidosisStrokelikeEpisodes |
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| 文本定义 |
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. |
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| subClassOf |