Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2
Synonyms

MTTL2

CARDIOMYOPATHY, MITOCHONDRIAL

MYOPATHY, MITOCHONDRIAL

ENCEPHALOMYOPATHY, MITOCHONDRIAL

tRNA-LEU, MITOCHONDRIAL, 2
ID

http://purl.bioontology.org/ontology/OMIM/590055
altLabel

MTTL2

CARDIOMYOPATHY, MITOCHONDRIAL

MYOPATHY, MITOCHONDRIAL

ENCEPHALOMYOPATHY, MITOCHONDRIAL

tRNA-LEU, MITOCHONDRIAL, 2
cui

C0162670

C1538007

C3532239

C0162666
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590055.0001

http://purl.bioontology.org/ontology/OMIM/590055.0002

http://purl.bioontology.org/ontology/OMIM/590055.0003
MIMTYPEMEANING

Gene with known sequence
notation

590055
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10027710 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/472315005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10058799 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/5000-0048 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10027710 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D017240 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10027710 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/DA-51600 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/16851005 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X709I RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/16851005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003559 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D017240 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10084364 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10084364 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/472315005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10084364 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/5000-0048 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/447292006 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D017237 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10058799 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D017237 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10058799 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003558 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/447292006 SNOMEDCT CUI