Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

CYTOCHROME c OXIDASE III

Synonyms

MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA

COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT III

MITOCHONDRIAL COMPLEX IV DEFICIENCY

MTCO3

LEBER OPTIC ATROPHY

COIII

SEIZURES AND LACTIC ACIDOSIS

ID

http://purl.bioontology.org/ontology/OMIM/516050

altLabel

MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA

COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT III

MITOCHONDRIAL COMPLEX IV DEFICIENCY

MTCO3

LEBER OPTIC ATROPHY

COIII

SEIZURES AND LACTIC ACIDOSIS

cui

C4017626

C0917796

C0268237

C1537987

C4016603

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/516050.0003

http://purl.bioontology.org/ontology/OMIM/516050.0004

http://purl.bioontology.org/ontology/OMIM/516050.0005

http://purl.bioontology.org/ontology/OMIM/516050.0002

http://purl.bioontology.org/ontology/OMIM/516050.0001

http://purl.bioontology.org/ontology/OMIM/516050.0006

http://purl.bioontology.org/ontology/OMIM/516050.0007

MIMTYPEMEANING

Gene with known sequence

notation

516050

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

CYTOCHROME c OXIDASE III

tui

T047

T033

T028

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