Online Mendelian Inheritance in Man

Last uploaded: November 18, 2019
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, VALINE

Synonyms

MTTV

ID

http://purl.bioontology.org/ontology/OMIM/590105

altLabel

MTTV

NEONATAL DEATH

tRNA-VAL, MITOCHONDRIAL

ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS

LEIGH SYNDROME

cui

C0023264

C1538016

C0410916

C4016634

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590105.0001

http://purl.bioontology.org/ontology/OMIM/590105.0002

MIMTYPEMEANING

Gene with known sequence

notation

590105

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFER RNA, MITOCHONDRIAL, VALINE

tui

T028

T033

T047

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http://purl.bioontology.org/ontology/CSP/5000-0048 CRISP CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.82 ICD10CM CUI
http://purl.bioontology.org/ontology/RCD/X70EN RCD CUI
http://purl.bioontology.org/ontology/WHOFRE/0710 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10062950 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D066087 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D066087 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10011912 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/276506001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1849-5394 CRISP CUI
http://purl.bioontology.org/ontology/CST/DEATH COSTART CUI
http://purl.bioontology.org/ontology/SNOMEDCT/29570005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/WHO/0710 WHO-ART CUI
http://purl.bioontology.org/ontology/RCD/F10y1 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/29570005 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/Xa07Y RCD CUI
http://purl.bioontology.org/ontology/MESH/D007888 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10062950 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/DA-20161 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/F-88800 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10011912 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001801 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/276506001 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D007888 MSHFRE CUI