loading...| Preferred Name |
TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1 |
| Synonyms |
CYCLIC VOMITING SYNDROME |
| ID |
http://purl.bioontology.org/ontology/OMIM/590050 |
| altLabel |
CYCLIC VOMITING SYNDROME ENCEPHALOMYOPATHY, MITOCHONDRIAL KEARNS-SAYRE SYNDROME DIABETES AND DEAFNESS, MATERNALLY INHERITED MELAS SYNDROME PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH MERRF/MELAS OVERLAP SYNDROME MYELODYSPLASTIC SYNDROME, SOMATIC SKELETAL MYOPATHY, RESPONSIVE TO RIBOFLAVIN MACULOPATHY, AGE-RELATED MERRF SYNDROME NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY MITOCHONDRIAL COMPLEX IV DEFICIENCY SUDDEN INFANT DEATH SYNDROME MTTL1 3-@METHYLGLUTACONIC ACIDURIA DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED tRNA-LEU, MITOCHONDRIAL, 1 MUSCLE STIFFNESS, PAINFUL |
| cui |
C3696376 C4016616 C0162666 C0268237 C1417474 C1838818 C0038644 C4016619 C0242383 C0162672 C0162671 C4016617 C0152164 C0342289 C4016618 C0022541 C4016615 C4017627 C3151970 |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/590050.0009 http://purl.bioontology.org/ontology/OMIM/590050.0004 http://purl.bioontology.org/ontology/OMIM/590050.0003 http://purl.bioontology.org/ontology/OMIM/590050.0008 http://purl.bioontology.org/ontology/OMIM/590050.0001 http://purl.bioontology.org/ontology/OMIM/590050.0012 http://purl.bioontology.org/ontology/OMIM/590050.0005 http://purl.bioontology.org/ontology/OMIM/590050.0006 http://purl.bioontology.org/ontology/OMIM/590050.0007 http://purl.bioontology.org/ontology/OMIM/590050.0010 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
590050 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1 |
| tui |
T028 T019 T033 T047 |