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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| Id | http://purl.obolibrary.org/obo/DOID_3687
http://purl.obolibrary.org/obo/DOID_3687
|
|---|---|
| Preferred Name | MELAS syndrome |
| 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].
|
| Synonyms |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. OMIM mapping confirmed by DO. [SN]. |
|---|---|
| label |
MELAS syndrome
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
MELAS syndrome
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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
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| notation |
DOID:3687
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| in_subset | |
| id |
DOID:3687
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| note |
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].
|
| has_symptom | |
| has_obo_namespace |
disease_ontology
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| subClassOf | |
| 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.
|
| type | |
| has_exact_synonym |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
|
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