loading...| Preferred Name |
TRANSFER RNA, MITOCHONDRIAL, SERINE, 1 |
|
| Synonyms |
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA tRNA-SER, MITOCHONDRIAL, 1 MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY MERRF/MELAS OVERLAP SYNDROME MTTS1 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES DEAFNESS, AMINOGLYCOSIDE-INDUCED |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/590080 |
|
| altLabel |
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA tRNA-SER, MITOCHONDRIAL, 1 MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY MERRF/MELAS OVERLAP SYNDROME MTTS1 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES DEAFNESS, AMINOGLYCOSIDE-INDUCED |
|
| cui |
C3151975 C1538013 C4016627 C3151897 C1835672 C3151970 C4016626 C1838854 |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/590080.0007 http://purl.bioontology.org/ontology/OMIM/590080.0008 http://purl.bioontology.org/ontology/OMIM/590080.0002 http://purl.bioontology.org/ontology/OMIM/590080.0006 http://purl.bioontology.org/ontology/OMIM/590080.0004 http://purl.bioontology.org/ontology/OMIM/590080.0009 http://purl.bioontology.org/ontology/OMIM/590080.0001 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
590080 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
TRANSFER RNA, MITOCHONDRIAL, SERINE, 1 |
|
| tui |
T047 T033 T028 |