MELAS syndrome

one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy
rdfs:label
"MELAS syndrome"@en
skos:altLabel
"MELAS"@en
"MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES"@en
"MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS"@en
"Melas Syndrome"@en
"Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke"@en
"Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes"@en
"Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes"@en
"mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes"@en
schema:description
"one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's hereditary optic neuropathy"@en
schema:dateModified "2026-10-24T00:26:18+00:00"^^xsd:dateTime
schema:version 2560165812
wikibase:identifiers 31
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p:direct-normalized/P2347 <http://www.yso.fi/onto/yso/p23068>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D017241>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0010789>
p:direct-normalized/P6366 <https://makg.org/entity/2776287708>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01347>
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<http://id.nlm.nih.gov/mesh/C10.228.140.163.100.535>
<http://id.nlm.nih.gov/mesh/C10.228.140.300.275.500>
<http://id.nlm.nih.gov/mesh/C10.668.491.500.500.500>
<http://id.nlm.nih.gov/mesh/C14.907.253.329.500>
<http://id.nlm.nih.gov/mesh/C16.320.565.189.535>
<http://id.nlm.nih.gov/mesh/C18.452.132.100.535>
<http://id.nlm.nih.gov/mesh/C18.452.648.189.535>
<http://id.nlm.nih.gov/mesh/C18.452.660.560.620.520>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:3687>
wdt:P10283 "C2776287708"
wdt:P11143 "MELAS syndrome"
wdt:P11430 "DI-01983"
wdt:P1193 0.000163^^xsd:decimal
wdt:P14914 "D00550"
wdt:P1550 "550"
wdt:P1692 "277.87"
wdt:P1748 "C84885"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/A%20computed%20tomography%20brain%20scan%20showing%20bilateral%20basal%20ganglia%20calcification.jpg>
wdt:P1995 neurology
wdt:P2293 COI
CO II
COIII
CYTB
ND1
ND4
MTND6
TRNF
TRNH
TRNK
TRNL2
TRNQ
TRNS1
TRNS2
TRNV
TRNW
TRNL1
ND5
wdt:P2347 "23068"
wdt:P279 neurometabolic disease
mitochondrial disease with hypertrophic cardiomyopathy
syndrome associated with hypertrophic cardiomyopathy
mitochondrial disease with dilated cardiomyopathy
mitochondrial disease with epilepsy
mitochondrial disease with peripheral neuropathy
mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
syndromic genetic deafness
mitochondrial disease with eye involvement
mitochondrial encephalomyopathy
wdt:P2841 childhood onset
juvenile onset
adult onset
wdt:P2888 <http://identifiers.org/doid/DOID:3687>
<http://purl.obolibrary.org/obo/DOID_3687>
wdt:P2892 "C0162671"
wdt:P31 type of disease
wdt:P373 "MELAS syndrome"
wdt:P4229 "E88.41"
"G71.3"
wdt:P4317 "7009"
wdt:P486 "D017241"
wdt:P492 "540000"
wdt:P493 "277.87"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0010789"
wdt:P557 "8254"
wdt:P6366 "2776287708"
wdt:P646 "/m/09wr_0"
wdt:P6532 myoclonus
diabetes
vomiting
tonic–clonic seizure
Recurrent paroxysmal headache
focal segmental glomerulosclerosis
psychosis
muscle weakness
aphasia
intestinal pseudo-obstruction
proteinuria
muscular disease
wdt:P665 "H01347"
wdt:P668 "NBK1233"
wdt:P672 "C05.651.460.620.520"
"C10.228.140.163.100.535"
"C10.228.140.300.275.500"
"C10.668.491.500.500.500"
"C14.907.253.329.500"
"C16.320.565.189.535"
"C18.452.132.100.535"
"C18.452.648.189.535"
"C18.452.660.560.620.520"
wdt:P673 "946864"
wdt:P699 "DOID:3687"
wdt:P7464 "mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes"
wdt:P7807 "1369657886"
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