Preferred Name |
TRANSFER RNA, MITOCHONDRIAL, SERINE, 1 |
Synonyms |
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL |
ID |
http://purl.bioontology.org/ontology/OMIM/590080 |
altLabel |
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY MERRF/MELAS OVERLAP SYNDROME EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES DEAFNESS, AMINOGLYCOSIDE-INDUCED KERATODERMA, PALMOPLANTAR, WITH DEAFNESS MTTS1 tRNA-SER, MITOCHONDRIAL, 1 |
cui |
C1538013 C1835672 C4016626 C3151975 C1838854 C3151897 C3151970 C4016627 |
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/590080.0007 http://purl.bioontology.org/ontology/OMIM/590080.0006 http://purl.bioontology.org/ontology/OMIM/590080.0008 http://purl.bioontology.org/ontology/OMIM/590080.0003 http://purl.bioontology.org/ontology/OMIM/590080.0005 http://purl.bioontology.org/ontology/OMIM/590080.0009 http://purl.bioontology.org/ontology/OMIM/590080.0004 |
MIMTYPEMEANING |
Gene with known sequence |
notation |
590080 |
OMIM Entry Type |
1 |
OMIM MimType Value |
star |
prefLabel |
TRANSFER RNA, MITOCHONDRIAL, SERINE, 1 |
tui |
T028 T033 T047 |