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mitochondrial complex IV deficiency nuclear type 14 - Ontology Report - Rat Genome Database

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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:mitochondrial complex IV deficiency nuclear type 14
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Accession:DOID:0070499 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: COA3-RELATED CONDITION;   MC4DN14
 primary_id: MIM:619058
 alt_id: DOID:9008434

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mitochondrial complex IV deficiency nuclear type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D CCDC56 coiled-coil domain containing 56 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 chr 9:20,223,096...20,224,178
Ensembl chr 9:20,223,096...20,224,178 		JBrowse link
G 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 chr16:63,485,730...63,487,076 JBrowse link
G R 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 chr10:86,220,194...86,221,178 		JBrowse link
G M 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 chr11:101,168,796...101,169,774
Ensembl chr11:101,168,794...101,169,940 		JBrowse link
G H COA3 cytochrome c oxidase assembly factor 3 IAGP 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 chr17:42,797,625...42,798,704
Ensembl chr17:42,795,147...42,798,704 		JBrowse link
G P LOC100518575 cytochrome c oxidase assembly factor 3 homolog, mitochondrial 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 chr12:20,062,831...20,063,984
Ensembl chr12:20,062,826...20,063,980 		JBrowse link
G B LOC100970874 cytochrome c oxidase assembly factor 3 homolog, mitochondrial 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 chr17:14,519,214...14,520,292
Ensembl chr17:14,744,405...14,745,490 		JBrowse link
G N LOC101712798 cytochrome c oxidase assembly factor 3 homolog, mitochondrial 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 chrNW_004624795:1,414,533...1,415,828
Ensembl chrNW_004624795:1,414,727...1,415,483 		JBrowse link
G S LOC101972068 cytochrome c oxidase assembly factor 3 homolog, mitochondrial 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 chrNW_004936490:17,508,663...17,509,538
Ensembl chrNW_004936490:17,508,663...17,509,582 		JBrowse link
G C LOC102025968 cytochrome c oxidase assembly factor 3 homolog, mitochondrial 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 chrNW_004955451:16,607,495...16,608,732
Ensembl chrNW_004955451:16,607,895...16,608,647 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        mitochondrial metabolism disease 8513
          cytochrome-c oxidase deficiency disease 2310
            COX deficiency, benign infantile mitochondrial myopathy 508
              mitochondrial complex IV deficiency nuclear type 14 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          inherited metabolic disorder 74830
            mitochondrial metabolism disease 8513
              cytochrome-c oxidase deficiency disease 2310
                COX deficiency, benign infantile mitochondrial myopathy 508
                  mitochondrial complex IV deficiency nuclear type 14 10
paths to the root