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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:fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
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Accession:DOID:0050713 term browser browse the term
Definition:A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase. (DO)
Synonyms:exact_synonym: fatal infantile COX deficiency;   fatal infantile cytochrome C oxidase deficiency;   fatal infantile encephalocardiomyopathy
 primary_id: RDO:9004918
 xref: ORDO:1561
For additional species annotation, visit the Alliance of Genome Resources.


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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 PMID:14994243 PMID:15210538 PMID:16326995 PMID:18924171 PMID:19879173 PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 NCBI chr 7:120,422,926...120,439,942 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 PMID:25741868 PMID:25959673 PMID:26467025 PMID:28492532 NCBI chr 7:120,438,768...120,444,088 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 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 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 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 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 NCBI chr 1:242,605,588...242,622,279 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    Nutritional and Metabolic Diseases 5532
      disease of metabolism 5532
        Metabolic Brain Diseases 610
          mitochondrial encephalomyopathy 48
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 5
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 5
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 1
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
              fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 1
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        peripheral nervous system disease 2529
          neuropathy 2327
            neuromuscular disease 1833
              muscular disease 1232
                muscle tissue disease 823
                  myopathy 657
                    mitochondrial myopathy 88
                      mitochondrial encephalomyopathy 48
                        fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 5
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 5
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 1
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 1
                          fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 1
paths to the root