Preferred Name |
TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE |
Synonyms |
MYOPATHY, MITOCHONDRIAL, LATE-ONSET |
ID |
http://purl.bioontology.org/ontology/OMIM/590070 |
altLabel |
MYOPATHY, MITOCHONDRIAL, LATE-ONSET tRNA-PHE, MITOCHONDRIAL MELAS SYNDROME MTTF EPILEPSY, MITOCHONDRIAL NEPHROPATHY, TUBULOINTERSTITIAL MERRF SYNDROME ENCEPHALOPATHY, MITOCHONDRIAL |
cui |
C4016623 C1538002 C0041349 C0162672 C4016624 C1852373 C0162671 |
Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/590070.0007 http://purl.bioontology.org/ontology/OMIM/590070.0003 http://purl.bioontology.org/ontology/OMIM/590070.0005 http://purl.bioontology.org/ontology/OMIM/590070.0006 http://purl.bioontology.org/ontology/OMIM/590070.0004 |
MIMTYPEMEANING |
Gene with known sequence |
notation |
590070 |
OMIM Entry Type |
1 |
OMIM MimType Value |
star |
prefLabel |
TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE |
tui |
T028 T033 T047 |