Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, LYSINE
Synonyms

CARDIOMYOPATHY AND DEAFNESS

PARKINSON DISEASE, MITOCHONDRIAL

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS

tRNA-LYS, MITOCHONDRIAL

DIABETES AND DEAFNESS, MATERNALLY INHERITED

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME

MERRF/MELAS OVERLAP SYNDROME

LEIGH SYNDROME

MTTK

MERRF SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/590060

altLabel

CARDIOMYOPATHY AND DEAFNESS

PARKINSON DISEASE, MITOCHONDRIAL

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS

tRNA-LYS, MITOCHONDRIAL

DIABETES AND DEAFNESS, MATERNALLY INHERITED

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME

MERRF/MELAS OVERLAP SYNDROME

LEIGH SYNDROME

MTTK

MERRF SYNDROME

cui

C0872218

C0342289

C0023264

C4016622

C1838867

C0162672

C1538006

C3151970

C4016620

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590060.0004

http://purl.bioontology.org/ontology/OMIM/590060.0005

http://purl.bioontology.org/ontology/OMIM/590060.0003

http://purl.bioontology.org/ontology/OMIM/590060.0006

http://purl.bioontology.org/ontology/OMIM/590060.0007

http://purl.bioontology.org/ontology/OMIM/590060.0002

http://purl.bioontology.org/ontology/OMIM/590060.0001

MIMTYPEMEANING

Gene with known sequence

notation

590060

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFER RNA, MITOCHONDRIAL, LYSINE

tui

T047

T033

T028

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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10065271 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10086189 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D007888 MESH CUI
http://purl.bioontology.org/ontology/MESH/C564015 MESH CUI
http://purl.bioontology.org/ontology/SNMI/DA-51670 SNMI CUI
http://purl.bioontology.org/ontology/LNC/LP31891-2 LOINC CUI
http://purl.bioontology.org/ontology/CSP/5000-0048 CRISP CUI
http://purl.bioontology.org/ontology/MESH/C536350 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/718214007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10065271 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/718214007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10065271 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237619009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C536246 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/237619009 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10086189 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X40JZ RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10086189 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/5000-0048 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D007888 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-20161 SNMI CUI
http://purl.bioontology.org/ontology/CSP/1849-5394 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10062950 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10062950 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10062950 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/29570005 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.82 ICD10CM CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/29570005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001801 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/F10y1 RCD CUI
http://purl.bioontology.org/ontology/SNMI/DA-51660 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10067603 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D017243 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/230426003 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10067603 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10062939 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230426003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003561 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/E88.42 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10069825 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069825 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10067603 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10062939 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X006Y RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10062939 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D017243 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10069825 MDRGER CUI