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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cytochrome-c oxidase deficiency disease
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Accession:DOID:3762 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)
Synonyms:exact_synonym: Complex IV Deficiency;   Cox Deficiencies;   Cox Deficiency;   Cytochrome Oxidase Deficiencies;   Cytochrome Oxidase Deficiency;   Cytochrome c Oxidase I Deficiency;   complex IV deficiencies;   cytochrome-c oxidase deficiencies;   cytochrome-c oxidase deficiency;   early-onset hepatic failure and neurologic disorder due to cytochrome c oxidase deficiency;   lethal neonatal hypertrophic cardiomyopathy due to cytochrome c oxidase deficiency;   mitochondrial complex IV deficiency;   mitochondrial cytochrome c oxidase deficiency
 narrow_synonym: sensorineural deafness with neurologic features
 primary_id: MESH:D030401
 xref: NCI:C98910;   OMIM:PS220110
For additional species annotation, visit the Alliance of Genome Resources.


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cytochrome-c oxidase deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa3 cytochrome C oxidase assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency ClinVar PMID:25604084 NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178
JBrowse link
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency
ClinVar PMID:25175347 PMID:25741868 NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO
ISS
ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar
MouseDO
PMID:9536098 PMID:12928484 PMID:17576681 PMID:23814038 PMID:25741868 More... NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
JBrowse link
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar PMID:25741868 NCBI chr13:90,065,900...90,075,386 JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency ClinVar PMID:25741868 PMID:26685157 NCBI chr 1:204,402,118...204,404,439 JBrowse link
G Cpo carboxypeptidase O ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 9:65,319,996...65,338,250 JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:242,622,276...242,637,048
Ensembl chr 1:242,622,276...242,637,047
JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:242,559,365...242,601,044
Ensembl chr 1:242,559,365...242,601,447
JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency
ClinVar PMID:18771761 PMID:25326635 PMID:25497598 PMID:25741868 PMID:25842391 More... NCBI chr 9:65,166,148...65,188,184
Ensembl chr 9:65,168,228...65,188,174
JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO RGD PMID:12529507 RGD:1600676 NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
JBrowse link
G Mdh1b malate dehydrogenase 1B ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 9:65,120,370...65,168,008
Ensembl chr 9:65,119,029...65,167,933
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cytochrome c oxidase i deficiency
ClinVar PMID:9832034 PMID:10441567 PMID:12140182 PMID:16284789 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency
ClinVar PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 Ensembl chr MT:7,006...7,689 JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by null ClinVar PMID:8630495 PMID:9634511 PMID:11063732 PMID:12414820 Ensembl chr MT:8,599...9,382 JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO
ISS
ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar
MouseDO
PMID:25741868 PMID:28492532 NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
CTD
ClinVar
PMID:9837813 PMID:9843204 PMID:10636738 PMID:10647889 PMID:10746561 More... NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by OMIM:220110
CTD
ClinVar
PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:25959673 PMID:26467025 More... NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:12529715 PMID:15210538 PMID:19879173 PMID:23643385 More... NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:39,651,459...39,664,870 JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:54,395,682...54,398,918 JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by OMIM:615119
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
ClinVar
OMIM
PMID:2175025 PMID:12474143 PMID:15235026 PMID:15863660 PMID:21412973 More... NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261
JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM
PMID:21457908 NCBI chr 9:39,651,459...39,664,870 JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ClinVar
OMIM
PMID:22277967 PMID:24549041 PMID:25339201 PMID:25959673 PMID:26160915 NCBI chr19:54,395,682...54,398,918 JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type
ClinVar Annotator: match by term: Leigh syndrome, French Canadian type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:220111
OMIM
ClinVar
CTD
PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:18414213 More... NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12928484 PMID:25741868 PMID:32313153 NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
JBrowse link
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25741868 NCBI chr13:90,065,900...90,075,386 JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:8630495 Ensembl chr MT:8,599...9,382 JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO OMIM NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315
JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:19503089 PMID:20727754 PMID:25741868 NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox14 cytochrome c oxidase assembly factor COX14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 ClinVar
OMIM
PMID:22243966 NCBI chr 7:130,852,226...130,854,316 JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 ClinVar
OMIM
PMID:23125284 PMID:24202787 PMID:25741868 NCBI chr13:90,065,900...90,075,386 JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 ClinVar
OMIM
PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa3 cytochrome C oxidase assembly factor 3 ISO OMIM NCBI chr10:86,220,192...86,221,173
Ensembl chr10:86,220,194...86,221,178
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox8a cytochrome c oxidase subunit 8A ISO OMIM NCBI chr 1:204,402,118...204,404,439 JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i1 cytochrome c oxidase subunit 4i1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 ClinVar
OMIM
PMID:31290619 NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar
OMIM
PMID:25175347 PMID:25741868 PMID:28492532 NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox6a2 cytochrome c oxidase subunit 6A2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar
PMID:25741868 PMID:31155743 NCBI chr 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 ClinVar PMID:25741868 PMID:28386624 NCBI chr 3:131,736,430...131,781,732
Ensembl chr 3:131,736,549...131,781,706
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 ClinVar
OMIM
PMID:28247525 NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa4 NDUFA4, mitochondrial complex associated ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 OMIM
ClinVar
NCBI chr 4:40,002,216...40,009,384
Ensembl chr 4:40,002,216...40,023,920
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox16 cytochrome c oxidase assembly factor COX16 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 OMIM
ClinVar
NCBI chr 6:101,162,231...101,181,277
Ensembl chr 6:101,019,680...101,181,246
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 ClinVar
OMIM
PMID:10767350 PMID:12928484 PMID:15455402 PMID:25741868 PMID:32313153 NCBI chr10:48,630,993...48,742,835
Ensembl chr10:48,630,676...48,746,667
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 ClinVar
OMIM
PMID:11013136 PMID:19295170 PMID:25741868 NCBI chr10:51,744,656...51,757,246
Ensembl chr10:51,744,656...51,757,237
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO OMIM NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taco1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 ClinVar
OMIM
PMID:19503089 PMID:20727754 PMID:25044680 PMID:25741868 NCBI chr10:91,002,590...91,010,494
Ensembl chr10:91,002,640...91,012,042
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        inherited metabolic disorder 2619
          cytochrome-c oxidase deficiency disease 31
            French Canadian Leigh disease 2
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 9
            Mitochondrial Complex IV Deficiency, Nuclear Type 10 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 11 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 12 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 14 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 15 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 16 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 17 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 18 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 19 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 20 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 21 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 22 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 3 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 4 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 7 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 8 1
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency + 5
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          inherited metabolic disorder 2619
            mitochondrial metabolism disease 394
              cytochrome-c oxidase deficiency disease 31
                French Canadian Leigh disease 2
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 9
                Mitochondrial Complex IV Deficiency, Nuclear Type 10 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 11 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 12 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 14 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 15 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 16 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 17 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 18 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 19 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 20 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 21 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 22 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 3 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 4 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 7 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 8 1
                fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency + 5
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