loading...| Preferred Name |
MELAS syndrome |
|
| Synonyms |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. 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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| 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 |
NCI:C84885 OMIM:540000 UMLS_CUI:C0162671 SNOMEDCT_US_2021_09_01:39925003 MESH:D017241 ICD10CM:E88.41 |
|
| 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. |
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| has_exact_synonym |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES |
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| has_obo_namespace |
disease_ontology |
|
| has_symptom |
http://purl.obolibrary.org/obo/SYMP_0000504 http://purl.obolibrary.org/obo/SYMP_0000329 http://purl.obolibrary.org/obo/SYMP_0000293 |
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| IAO_0000115 |
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. |
|
| id |
DOID:3687 |
|
| in_subset | ||
| label |
MELAS syndrome |
|
| notation |
DOID:3687 |
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| prefLabel |
MELAS syndrome |
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| subClassOf |