loading...| Preferred Name | MELAS Syndrome | |
| Synonyms |
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke MELAS Syndrome MELAS |
|
| Definitions |
A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84885 |
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| ALT_DEFINITION |
A maternally inherited condition characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. |
|
| code |
C84885 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| DEFINITION |
A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. |
|
| FULL_SYN |
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke MELAS Syndrome MELAS |
|
| label |
MELAS Syndrome |
|
| Preferred_Name |
MELAS Syndrome |
|
| prefixIRI |
Thesaurus:C84885 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0162671 |
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| subClassOf |