Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE

Synonyms

MULTISYSTEM DISORDER

ID

http://purl.bioontology.org/ontology/OMIM/590045

altLabel

MULTISYSTEM DISORDER

CARDIOMYOPATHY, FATAL

HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL

MTTI

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC

DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL

tRNA-ILE, MITOCHONDRIAL

CARDIOMYOPATHY, FATAL INFANTILE

ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING

cui

C0949658

C1538005

C4016613

C4016614

C3151897

C4016612

C0559758

C1839021

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590045.0005

http://purl.bioontology.org/ontology/OMIM/590045.0007

http://purl.bioontology.org/ontology/OMIM/590045.0006

http://purl.bioontology.org/ontology/OMIM/590045.0002

http://purl.bioontology.org/ontology/OMIM/590045.0003

http://purl.bioontology.org/ontology/OMIM/590045.0001

http://purl.bioontology.org/ontology/OMIM/590045.0004

MIMTYPEMEANING

Gene with known sequence

notation

590045

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE

tui

T047

T033

T028

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