Cytochrome-c Oxidase Deficiency

Cox Deficiency

A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)

http://purl.bioontology.org/ontology/MESH/D030401

Cox Deficiency

Deficiencies, Cytochrome-c Oxidase

Deficiency, Cytochrome Oxidase

Deficiency, Cox

Oxidase Deficiency, Cytochrome

Cytochrome Oxidase Deficiencies

Cytochrome Oxidase Deficiency

Oxidase Deficiencies, Cytochrome

Complex IV Deficiencies

Deficiencies, Cox

Complex IV Deficiency

Deficiencies, Complex IV

Deficiencies, Cytochrome Oxidase

Oxidase Deficiencies, Cytochrome-c

Cytochrome C Oxidase Deficiency

Deficiency, Complex IV

Deficiency, Cytochrome c Oxidase

Mitochondrial Complex IV Deficiency

Oxidase Deficiency, Cytochrome-c

Cytochrome-c Oxidase Deficiencies

Deficiency, Cytochrome-c Oxidase

Cox Deficiencies

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

C0268237

1

A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)

20020101

D003576

2002

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/D003576

http://purl.bioontology.org/ontology/MESH/D007888

http://purl.bioontology.org/ontology/MESH/D011371

http://purl.bioontology.org/ontology/MESH/D029242

http://purl.bioontology.org/ontology/MESH/D016464

http://purl.bioontology.org/ontology/MESH/D002239

http://purl.bioontology.org/ontology/MESH/D015324

http://purl.bioontology.org/ontology/MESH/D007625

http://purl.bioontology.org/ontology/MESH/D015499

http://purl.bioontology.org/ontology/MESH/D020157

http://purl.bioontology.org/ontology/MESH/D006933

http://purl.bioontology.org/ontology/MESH/D011686

http://purl.bioontology.org/ontology/MESH/D008664

http://purl.bioontology.org/ontology/MESH/D054069

http://purl.bioontology.org/ontology/MESH/D029241

http://purl.bioontology.org/ontology/MESH/D028226

http://purl.bioontology.org/ontology/MESH/D043202

http://purl.bioontology.org/ontology/MESH/D020165

http://purl.bioontology.org/ontology/MESH/D020739

http://purl.bioontology.org/ontology/MESH/D007888

http://purl.bioontology.org/ontology/MESH/D000592

http://purl.bioontology.org/ontology/MESH/D008052

http://purl.bioontology.org/ontology/MESH/D015325

http://purl.bioontology.org/ontology/MESH/D017240

http://purl.bioontology.org/ontology/MESH/D018901

http://purl.bioontology.org/ontology/MESH/D005621

2002

http://purl.bioontology.org/ontology/MESH/C565784

http://purl.bioontology.org/ontology/MESH/C537004

20010725

20130708

C16.320.565.240

C18.452.660.195

D030401

Cytochrome-c Oxidase Deficiency

T447259

T812182

T812183

T843578

T843579

T443344

T443346

NLM (2002)

OMIM (2013)

GHR (2014)

T019

T047

http://purl.bioontology.org/ontology/MESH/D028361

http://purl.bioontology.org/ontology/MESH/D008661