Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/590050
http://purl.bioontology.org/ontology/OMIM/590050
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1
Synonyms
MACULOPATHY, AGE-RELATED
SUDDEN INFANT DEATH SYNDROME
MELAS SYNDROME
MITOCHONDRIAL SKELETAL MYOPATHY
MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
DIABETES AND DEAFNESS, MATERNALLY INHERITED
MYELODYSPLASTIC SYNDROME, SOMATIC
MITOCHONDRIAL SKELETAL MYOPATHY, RESPONSIVE TO RIBOFLAVIN
tRNA-LEU, MITOCHONDRIAL, 1
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH
MERRF SYNDROME
LEIGH SYNDROME, MITOCHONDRIAL
ENCEPHALOMYOPATHY, MITOCHONDRIAL
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT
MTTL1
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Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MACULOPATHY, AGE-RELATED
SUDDEN INFANT DEATH SYNDROME
MELAS SYNDROME
MITOCHONDRIAL SKELETAL MYOPATHY
MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY
DIABETES AND DEAFNESS, MATERNALLY INHERITED
MYELODYSPLASTIC SYNDROME, SOMATIC
MITOCHONDRIAL SKELETAL MYOPATHY, RESPONSIVE TO RIBOFLAVIN
tRNA-LEU, MITOCHONDRIAL, 1
DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH
MERRF SYNDROME
LEIGH SYNDROME, MITOCHONDRIAL
ENCEPHALOMYOPATHY, MITOCHONDRIAL
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT
MTTL1
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prefLabel
TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1
notation
590050
Has allelic variant
OMIM MimType Value
star
Semantic type UMLS property
OMIM Entry Type
1
type
MIMTYPEMEANING
Gene with known sequence
Phenotype of
tui
T047
T033
T028
cui
C5935669
C0242383
C0342289
C2931092
C5935670
C4016616
C0162671
C0038644
C0162672
C4016618
C4017627
C5935671
C4016619
C0162666
C1417474
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