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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

AttributesValues
type
subClassOf
label
  • MELAS syndrome
comment
  • OMIM mapping confirmed by DO. [SN].
described by
id
  • DOID:3687
database_cross_reference
  • ICD10CM:E88.41
  • MESH:D017241
  • NCI:C84885
  • OMIM:540000
  • SNOMEDCT_US_2021_09_01:39925003
  • UMLS_CUI:C0162671
has_exact_synonym
  • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/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.
is topic of
is annotatedSource of
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