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DO Term : MELAS syndrome [DOID:3687] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • NCI:C84885,
  • 540000,
  • OMIM:540000,
  • MESH:D017241,
  • ICD10CM:E88.41,
  • UMLS_CUI:C0162671,
  • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES,
  • SNOMEDCT_US_2023_03_01:39925003
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents