Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G31.82 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D066087 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D007888 Medical Subject Headings CUI