Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE

Synonyms

MYOPATHY, MITOCHONDRIAL, LATE-ONSET

ID

http://purl.bioontology.org/ontology/OMIM/590070

altLabel

MYOPATHY, MITOCHONDRIAL, LATE-ONSET

tRNA-PHE, MITOCHONDRIAL

MELAS SYNDROME

MTTF

EPILEPSY, MITOCHONDRIAL

NEPHROPATHY, TUBULOINTERSTITIAL

MERRF SYNDROME

ENCEPHALOPATHY, MITOCHONDRIAL

cui

C4016623

C1538002

C0041349

C0162672

C4016624

C1852373

C0162671

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590070.0007

http://purl.bioontology.org/ontology/OMIM/590070.0003

http://purl.bioontology.org/ontology/OMIM/590070.0005

http://purl.bioontology.org/ontology/OMIM/590070.0006

http://purl.bioontology.org/ontology/OMIM/590070.0004

http://purl.bioontology.org/ontology/OMIM/590070.0001

http://purl.bioontology.org/ontology/OMIM/590070.0002

MIMTYPEMEANING

Gene with known sequence

notation

590070

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE

tui

T028

T033

T047

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