loading...| Preferred Name |
TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE |
| Synonyms |
ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING |
| ID |
http://purl.bioontology.org/ontology/OMIM/590045 |
| altLabel |
ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL tRNA-ILE, MITOCHONDRIAL MTTI HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL MULTISYSTEM DISORDER CARDIOMYOPATHY, FATAL CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, FATAL INFANTILE |
| cui |
C4016612 C0559758 C0949658 C4016613 C4016614 C1538005 C3151897 C1839021 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/590045.0006 http://purl.bioontology.org/ontology/OMIM/590045.0004 http://purl.bioontology.org/ontology/OMIM/590045.0001 http://purl.bioontology.org/ontology/OMIM/590045.0002 http://purl.bioontology.org/ontology/OMIM/590045.0003 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
590045 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE |
| tui |
T028 T033 T047 |