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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, infantile mitochondrial myopathy
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Accession:DOID:0050713 term browser browse the term
Definition:A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. (DO)
Synonyms:exact_synonym: fatal infantile COX deficiency;   fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency;   fatal infantile cytochrome C oxidase deficiency;   fatal infantile encephalocardiomyopathy
 xref: ORDO:1561


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COX deficiency, infantile mitochondrial myopathy 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:11673586 PMID:12020273 PMID:14970747 PMID:14994243 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: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 13 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 OMIM
ClinVar		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25741868 PMID:25959673 More... NCBI chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407 		JBrowse link
mitochondrial complex IV deficiency nuclear type 2 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 chr19:54,395,746...54,398,348
Ensembl chr19:54,395,742...54,399,407 		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 Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 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: 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
mitochondrial complex IV deficiency nuclear type 6 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 term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 OMIM
ClinVar		 PMID:2175025 PMID:9536098 PMID:12474143 PMID:15235026 PMID:15863660 More... NCBI chr 1:242,605,588...242,622,279
Ensembl chr 1:242,605,588...242,622,261 		JBrowse link
mitochondrial complex IV deficiency nuclear type 9 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        Metabolic Brain Diseases 1487
          mitochondrial encephalomyopathy 78
            COX deficiency, infantile mitochondrial myopathy 5
              mitochondrial complex IV deficiency nuclear type 13 1
              mitochondrial complex IV deficiency nuclear type 2 5
              mitochondrial complex IV deficiency nuclear type 6 1
              mitochondrial complex IV deficiency nuclear type 9 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myopathy 1004
                    mitochondrial myopathy 123
                      mitochondrial encephalomyopathy 78
                        COX deficiency, infantile mitochondrial myopathy 5
                          mitochondrial complex IV deficiency nuclear type 13 1
                          mitochondrial complex IV deficiency nuclear type 2 5
                          mitochondrial complex IV deficiency nuclear type 6 1
                          mitochondrial complex IV deficiency nuclear type 9 1
paths to the root