Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

MITOCHONDRIAL COMPLEX IV DEFICIENCY

Synonyms

CYTOCHROME c OXIDASE DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/220110

altLabel

CYTOCHROME c OXIDASE DEFICIENCY

COX DEFICIENCY

cui

C0268237

Gene Locus

14q32.33

Gene Symbol

APOP

APOPT1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU013547

http://purl.bioontology.org/ontology/OMIM/MTHU041838

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU013530

http://purl.bioontology.org/ontology/OMIM/MTHU003978

http://purl.bioontology.org/ontology/OMIM/MTHU027877

http://purl.bioontology.org/ontology/OMIM/MTHU027875

http://purl.bioontology.org/ontology/OMIM/MTHU027878

http://purl.bioontology.org/ontology/OMIM/MTHU008654

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU027883

http://purl.bioontology.org/ontology/OMIM/MTHU027881

http://purl.bioontology.org/ontology/OMIM/MTHU027887

http://purl.bioontology.org/ontology/OMIM/MTHU027885

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU010783

http://purl.bioontology.org/ontology/OMIM/MTHU013528

http://purl.bioontology.org/ontology/OMIM/MTHU013534

http://purl.bioontology.org/ontology/OMIM/MTHU013532

http://purl.bioontology.org/ontology/OMIM/MTHU013531

http://purl.bioontology.org/ontology/OMIM/MTHU013548

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036657

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU053639

http://purl.bioontology.org/ontology/OMIM/MTHU000966

http://purl.bioontology.org/ontology/OMIM/MTHU027879

http://purl.bioontology.org/ontology/OMIM/MTHU027874

http://purl.bioontology.org/ontology/OMIM/MTHU041839

http://purl.bioontology.org/ontology/OMIM/MTHU058319

http://purl.bioontology.org/ontology/OMIM/MTHU027880

http://purl.bioontology.org/ontology/OMIM/MTHU027884

http://purl.bioontology.org/ontology/OMIM/MTHU045380

http://purl.bioontology.org/ontology/OMIM/MTHU041840

http://purl.bioontology.org/ontology/OMIM/MTHU027872

http://purl.bioontology.org/ontology/OMIM/MTHU027876

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000153

http://purl.bioontology.org/ontology/OMIM/MTHU038284

http://purl.bioontology.org/ontology/OMIM/MTHU058320

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU027888

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU027882

http://purl.bioontology.org/ontology/OMIM/MTHU000661

http://purl.bioontology.org/ontology/OMIM/MTHU013529

http://purl.bioontology.org/ontology/OMIM/MTHU004739

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU013527

http://purl.bioontology.org/ontology/OMIM/MTHU013525

http://purl.bioontology.org/ontology/OMIM/MTHU013549

http://purl.bioontology.org/ontology/OMIM/MTHU013537

http://purl.bioontology.org/ontology/OMIM/MTHU013535

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU000964

http://purl.bioontology.org/ontology/OMIM/MTHU036801

http://purl.bioontology.org/ontology/OMIM/MTHU045379

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

220110

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MITOCHONDRIAL COMPLEX IV DEFICIENCY

tui

T019

T047

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http://purl.bioontology.org/ontology/MESH/D030401 Medical Subject Headings CUI