Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

TRANSFER RNA, MITOCHONDRIAL, SERINE, 1

Synonyms

DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL

ID

http://purl.bioontology.org/ontology/OMIM/590080

altLabel

DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL

MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY

MERRF/MELAS OVERLAP SYNDROME

EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA

DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES

DEAFNESS, AMINOGLYCOSIDE-INDUCED

KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

MTTS1

tRNA-SER, MITOCHONDRIAL, 1

cui

C1538013

C1835672

C4016626

C3151975

C1838854

C3151897

C3151970

C4016627

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/590080.0007

http://purl.bioontology.org/ontology/OMIM/590080.0006

http://purl.bioontology.org/ontology/OMIM/590080.0008

http://purl.bioontology.org/ontology/OMIM/590080.0003

http://purl.bioontology.org/ontology/OMIM/590080.0005

http://purl.bioontology.org/ontology/OMIM/590080.0009

http://purl.bioontology.org/ontology/OMIM/590080.0004

http://purl.bioontology.org/ontology/OMIM/590080.0001

http://purl.bioontology.org/ontology/OMIM/590080.0002

MIMTYPEMEANING

Gene with known sequence

notation

590080

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFER RNA, MITOCHONDRIAL, SERINE, 1

tui

T028

T033

T047

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http://purl.bioontology.org/ontology/MESH/C537845 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C536152 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564013 Medical Subject Headings CUI