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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:COX deficiency, benign infantile mitochondrial myopathy
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Accession:DOID:0081377 term browser browse the term
Definition:A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. (DO)
Synonyms:exact_synonym: isolated cytochrome C oxidase deficiency
 alt_id: DOID:0080035
 xref: ORDO:254905


show annotations for term's descendants           Sort by:
mitochondrial complex IV deficiency nuclear type 1 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, nuclear type 1 ClinVar PMID:25604084 PMID:28492532 PMID:36344503 NCBI chr10:86,720,454...86,721,435
Ensembl chr10:86,720,456...86,721,440 		JBrowse link
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:25175347 PMID:25741868 PMID:28492532 NCBI chr 6:136,593,399...136,618,237
Ensembl chr 6:136,592,787...136,619,602 		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 Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:12928484 PMID:17576681 PMID:22669974 PMID:23814038 More... NCBI chr10:49,130,209...49,242,009
Ensembl chr10:49,130,209...49,242,009 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr 1:252,554,811...252,571,471
Ensembl chr 1:252,554,811...252,571,471 		JBrowse link
G Cox18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:25741868 NCBI chr14:18,147,558...18,161,622
Ensembl chr14:18,149,992...18,161,619 		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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30656193 More... NCBI chr13:92,592,260...92,604,129
Ensembl chr14:6,872,315...6,872,638 		JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 NCBI chr 1:95,002,513...95,011,516
Ensembl chr 1:95,001,707...95,011,431
Ensembl chr 5:95,001,707...95,011,431 		JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:25741868 PMID:26685157 PMID:28492532 NCBI chr 1:213,831,302...213,833,623
Ensembl chr 1:213,831,298...213,833,623 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:18771761 PMID:25326635 PMID:25497598 PMID:25741868 PMID:25842391 More... NCBI chr 9:72,659,961...72,681,986
Ensembl chr 9:72,661,764...72,721,338 		JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:28492532 NCBI chr 9:88,555,050...88,560,101
Ensembl chr 9:88,555,019...88,561,215 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:9832034 PMID:10441567 PMID:32906214 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,309...6,853 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 PMID:22342700 NCBI chr MT:7,006...7,689
Ensembl chr MT:6,991...7,674 		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 PMID:9634511 PMID:11063732 PMID:12414820 PMID:14597761 More... NCBI chr MT:8,599...9,382
Ensembl chr MT:8,584...9,367 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33340101 NCBI chr10:52,243,664...52,256,250
Ensembl chr10:52,243,648...52,260,861 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 OMIM
ClinVar		 PMID:9536098 PMID:9837813 PMID:9843204 PMID:10443880 PMID:10558868 More... NCBI chr 3:30,639,868...30,642,759 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 PMID:28492532 NCBI chr10:91,502,395...91,510,299
Ensembl chr10:91,502,460...91,515,678 		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 OMIM
ClinVar		 PMID:22243966 PMID:25741868 PMID:28492532 NCBI chr 7:132,731,069...132,733,159
Ensembl chr 7:132,731,069...132,733,159 		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: COX20-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23125284 PMID:24202787 PMID:25741868 More... NCBI chr13:92,592,260...92,604,129
Ensembl chr14:6,872,315...6,872,638 		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 OMIM NCBI chr12:6,477,703...6,480,435
Ensembl chr12:6,477,777...6,480,431 		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 ClinVar Annotator: match by term: COA3-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 OMIM
ClinVar		 PMID:28492532 NCBI chr10:86,720,454...86,721,435
Ensembl chr10:86,720,456...86,721,440 		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 ClinVar Annotator: match by term: COX8A-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:213,831,302...213,833,623
Ensembl chr 1:213,831,298...213,833,623 		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: COX4I1-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31290619 NCBI chr19:65,630,383...65,636,623
Ensembl chr19:65,630,432...65,636,624 		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: COA8-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 OMIM
ClinVar		 PMID:25175347 PMID:25741868 PMID:28492532 PMID:30724636 NCBI chr 6:136,593,399...136,618,237
Ensembl chr 6:136,592,787...136,619,602 		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: COX6A2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar		 PMID:22592081 PMID:25741868 PMID:31155743 PMID:32304865 PMID:34151536 NCBI chr 1:192,218,970...192,221,188
Ensembl chr 1:192,218,970...192,219,716 		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 Pet117 PET117 cytochrome c oxidase chaperone ISO OMIM NCBI chr 3:152,187,473...152,195,173
Ensembl chr 3:152,189,892...152,194,868 		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: COX5A-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 OMIM
ClinVar		 PMID:28247525 PMID:28492532 PMID:35246835 NCBI chr 8:66,818,284...66,829,691
Ensembl chr 8:66,818,196...66,830,279 		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 | ClinVar Annotator: match by term: NDUFA4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:40,968,391...40,975,559
Ensembl chr 4:40,968,391...40,975,559 		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 OMIM NCBI chr 6:106,745,424...106,912,523
Ensembl chr 6:106,899,494...106,912,484 		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 OMIM
ClinVar		 PMID:10767350 PMID:12928484 PMID:15455402 PMID:22669974 PMID:23665194 More... NCBI chr10:49,130,209...49,242,009
Ensembl chr10:49,130,209...49,242,009 		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 Annotator: match by term: SCO1-related condition OMIM
ClinVar		 PMID:11013136 PMID:11118289 PMID:16520371 PMID:17182746 PMID:19295170 More... NCBI chr10:52,243,664...52,256,250
Ensembl chr10:52,243,648...52,260,861 		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 ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 OMIM
ClinVar		 PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 NCBI chr 1:95,002,513...95,011,516
Ensembl chr 1:95,001,707...95,011,431
Ensembl chr 5:95,001,707...95,011,431 		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 Annotator: match by term: TACO1-related condition OMIM
ClinVar		 PMID:16199547 PMID:19503089 PMID:20727754 PMID:25044680 PMID:25741868 More... NCBI chr10:91,502,395...91,510,299
Ensembl chr10:91,502,460...91,515,678 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        mitochondrial metabolism disease 343
          cytochrome-c oxidase deficiency disease 87
            COX deficiency, benign infantile mitochondrial myopathy 24
              mitochondrial complex IV deficiency nuclear type 1 16
              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
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          inherited metabolic disorder 3387
            mitochondrial metabolism disease 343
              cytochrome-c oxidase deficiency disease 87
                COX deficiency, benign infantile mitochondrial myopathy 24
                  mitochondrial complex IV deficiency nuclear type 1 16
                  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
paths to the root