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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:MELAS syndrome
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Accession:DOID:3687 term browser browse the term
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. (DO)
Synonyms:exact_synonym: JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE;   MELAS;   Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes;   Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes;   Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode;   mitochondrial myopathy-encephalopathy-lactic acidosis-stroke
 narrow_synonym: PARKINSONISM/MELAS OVERLAP SYNDROME
 primary_id: MESH:D017241
 alt_id: OMIM:540000
 xref: EFO:0000192;   ICD10CM:E88.41;   MONDO:0010789;   NCI:C84885
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
MELAS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes		 CTD
ClinVar		 PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO DNA:mutation:exon:m.9957T>C (F251L)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar
RGD		 PMID:7496173 PMID:15823923 PMID:18587274 PMID:25741868 PMID:18587274 RGD:5491184 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:22638077 PMID:32906214 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes		 CTD
ClinVar
RGD		 PMID:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 More... RGD:5490235 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1323207 PMID:3395302 PMID:8213827 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO DNA:mutations:exons:p. D393N, M237T (human)
DNA:mutation:exon:m.13849A>C (N505H)(human)
DNA:mutation:exon:m.13513G>A (D393N)(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes		 CTD
ClinVar
RGD		 PMID:9299505 PMID:10589546 PMID:11102991 PMID:11198278 PMID:12509858 More... RGD:5491173, RGD:5491184, RGD:5507825 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:11781695 NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070 		JBrowse link
G mt-Ta tRNA alanine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:11404121 PMID:16476954 PMID:19718780 PMID:31965079 NCBI chr MT:5,018...5,086
Ensembl chr MT:5,018...5,086 		JBrowse link
G mt-Tc tRNA cysteine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:8829635 PMID:9185178 PMID:9384601 PMID:12802679 PMID:16955414 More... NCBI chr MT:5,192...5,257
Ensembl chr MT:5,192...5,257 		JBrowse link
G mt-Td tRNA aspartic acid, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:10488907 PMID:18676632 PMID:31965079 NCBI chr MT:6,942...7,011
Ensembl chr MT:6,942...7,011 		JBrowse link
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:4114165 PMID:7726154 PMID:7726155 PMID:9353617 PMID:10392369 More... NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139 		JBrowse link
G mt-Tf tRNA phenylalanine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:1171391 PMID:2102678 PMID:6093682 PMID:9636664 PMID:9771776 More... NCBI chr MT:1...68
Ensembl chr MT:1...68 		JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:1709275 PMID:8079988 PMID:8888049 PMID:11335700 PMID:12621050 More... NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:7635294 PMID:11038324 PMID:12560876 PMID:14967777 PMID:15111688 More... NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:1978914 PMID:8889580 PMID:9461455 PMID:9466989 PMID:9473477 More... NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes		 CTD
ClinVar		 PMID:1324294 PMID:1334369 PMID:1361099 PMID:1463005 PMID:1487239 More... NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:540000
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes		 CTD
MouseDO
ClinVar		 PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:7804130 PMID:8923013 PMID:9361028 PMID:10602359 PMID:11313776 More... NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741 		JBrowse link
G mt-Tm tRNA methionine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:31965079 NCBI chr MT:3,845...3,913
Ensembl chr MT:3,845...3,913 		JBrowse link
G mt-Tn tRNA asparagine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:15752774 PMID:16908752 PMID:31965079 PMID:32906214 NCBI chr MT:5,089...5,159
Ensembl chr MT:5,089...5,159 		JBrowse link
G mt-Tp tRNA proline, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:10369889 PMID:11196116 PMID:12400067 PMID:12406974 PMID:15120634 More... NCBI chr MT:15,356...15,422
Ensembl chr MT:15,356...15,422 		JBrowse link
G mt-Tq tRNA glutamine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:11171912 PMID:11335700 PMID:11424923 PMID:12406974 PMID:15233983 More... NCBI chr MT:3,772...3,842
Ensembl chr MT:3,772...3,842 		JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:17588757 PMID:31965079 NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes		 CTD
ClinVar		 PMID:127819 PMID:6213205 PMID:7219534 PMID:7581383 PMID:7669057 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:7689389 PMID:16947981 PMID:16950817 PMID:17637808 PMID:19370763 More... NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G mt-Tt tRNA threonine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: MELAS syndrome | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ClinVar PMID:8769114 PMID:10369889 PMID:18178636 PMID:31965079 NCBI chr MT:15,289...15,355
Ensembl chr MT:15,289...15,355 		JBrowse link
G mt-Tv tRNA valine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:8797538 PMID:9450773 PMID:11799391 PMID:12056939 PMID:15320572 More... NCBI chr MT:1,025...1,093
Ensembl chr MT:1,025...1,093 		JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke		 CTD
ClinVar		 PMID:9266739 PMID:9673981 PMID:10762520 PMID:15054399 PMID:15670724 More... NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016 		JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:14598342 PMID:25741868 PMID:31965079 NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke ClinVar PMID:22499341 NCBI chr 1:63,182,751...63,215,981
Ensembl chr 1:63,182,755...63,215,992 		JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: MELAS syndrome ClinVar PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:11907800 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
MERRF/MELAS Overlap Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:14967777 PMID:15111688 PMID:31965079 PMID:32906214 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:1361099 PMID:8069654 PMID:20301693 PMID:20610441 PMID:31965079 More... NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:7669057 PMID:9832034 PMID:17894844 PMID:31965079 PMID:32906214 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:16950817 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      MELAS syndrome 37
        MERRF/MELAS Overlap Syndrome 5
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        peripheral nervous system disease 4114
          neuropathy 3914
            neuromuscular disease 3076
              muscular disease 2168
                muscle tissue disease 1314
                  myopathy 1030
                    mitochondrial myopathy 145
                      mitochondrial encephalomyopathy 100
                        MELAS syndrome 37
                          MERRF/MELAS Overlap Syndrome 5
paths to the root