loading...| Preferred Name | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES | |
| Synonyms |
MELAS SYNDROME MELAS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/540000 |
|
| altLabel |
MELAS SYNDROME MELAS |
|
| cui |
C0162671 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU029003 http://purl.bioontology.org/ontology/OMIM/MTHU008478 http://purl.bioontology.org/ontology/OMIM/MTHU009472 http://purl.bioontology.org/ontology/OMIM/MTHU003653 http://purl.bioontology.org/ontology/OMIM/MTHU029006 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU013464 http://purl.bioontology.org/ontology/OMIM/MTHU037241 http://purl.bioontology.org/ontology/OMIM/MTHU029001 http://purl.bioontology.org/ontology/OMIM/MTHU029005 http://purl.bioontology.org/ontology/OMIM/MTHU036798 http://purl.bioontology.org/ontology/OMIM/MTHU009866 http://purl.bioontology.org/ontology/OMIM/MTHU044064 http://purl.bioontology.org/ontology/OMIM/MTHU023294 http://purl.bioontology.org/ontology/OMIM/MTHU012144 http://purl.bioontology.org/ontology/OMIM/MTHU029009 http://purl.bioontology.org/ontology/OMIM/MTHU029008 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU003333 http://purl.bioontology.org/ontology/OMIM/MTHU000543 http://purl.bioontology.org/ontology/OMIM/MTHU011914 http://purl.bioontology.org/ontology/OMIM/MTHU029004 http://purl.bioontology.org/ontology/OMIM/MTHU002644 http://purl.bioontology.org/ontology/OMIM/MTHU029007 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
540000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES |
|
| Scope Statement |
Caused by mutation in the mitochondrial complex I, subunit ND1 gene (MTND1, 516000.0012) [MOLECULAR BASIS] The MTTL1 c.3243A-G transition (590050.0001) is the most common mutation [MISCELLANEOUS] Caused by mutation in the mitochondrial transfer RNA glutamine gene (MTTQ, 590030.0003) [MOLECULAR BASIS] Caused by mutation in the mitochondrial transfer RNA lysine gene (MTTK, 590060.0002) [MOLECULAR BASIS] Caused by mutation in the mitochondrial transfer RNA serine 2 gene (MTTS2, 590085.0002) [MOLECULAR BASIS] Caused by mutation in the mitochondrial transfer RNA serine 1 gene (MTTS1, 590080.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Caused by mutation in the mitochondrial transfer RNA leucine 1 gene (MTTL1, 590050.0001) [MOLECULAR BASIS] Caused by mutation in the mitochondrial complex I, subunit ND6 gene (MTND6, 516006.0005) [MOLECULAR BASIS] Variable age at onset [MISCELLANEOUS] Caused by mutation in the mitochondrial complex I, subunit ND5 gene (MTND5, 516005.0004) [MOLECULAR BASIS] Caused by mutation in the mitochondrial transfer RNA cysteine gene (MTTC, 590020.0001) [MOLECULAR BASIS] Caused by mutation in the mitochondrial transfer RNA histidine gene (MTTH, 590040.0003) [MOLECULAR BASIS] |
|
| tui |
T047 |