Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, HISTIDINE
Synonyms

CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL

PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS

MERRF/MELAS OVERLAP SYNDROME

tRNA-HIS, MITOCHONDRIAL

DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL

MTTH

CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL

ID

http://purl.bioontology.org/ontology/OMIM/590040

altLabel

CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL

PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS

MERRF/MELAS OVERLAP SYNDROME

tRNA-HIS, MITOCHONDRIAL

DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL

MTTH

CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL

cui

C1538004

C3532240

C4016610

C3151897

C4016611

C3151970

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590040.0004

http://purl.bioontology.org/ontology/OMIM/590040.0001

http://purl.bioontology.org/ontology/OMIM/590040.0002

http://purl.bioontology.org/ontology/OMIM/590040.0003

MIMTYPEMEANING

Gene with known sequence

notation

590040

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFER RNA, MITOCHONDRIAL, HISTIDINE

tui

T047

T033

T028

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