Disease Browser            Parent Node: isolated oxidative phosphorylation complex disorder (MONDO:0016805) Parent Node: mitochondrial complex deficiency (MONDO:0000066) ..Starting node ..cytochrome-c oxidase deficiency disease ()        Child Nodes: ........pancreatic insufficiency-anemia-hyperostosis syndrome ()  Sister Nodes:  ..cytochrome-c oxidase deficiency disease ()    L: 00012; ..mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 ()    L: 00579; ..mitochondrial complex I deficiency ()    L: 00011; ..mitochondrial complex II deficiency ()    L: 00016; ..mitochondrial complex III deficiency () ..mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ()    L: 00024; ..mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ()    L: 00025; ..mitochondrial complex V (ATP synthase) deficiency nuclear type 4 ()    L: 00010; ..mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 ()    L: 00023;     MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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SELECT t5.Variation_Name, t5.GeneID, t5.GeneSymbol, t5.ClinicalSignificance, t5.dbSNP, t5.RCVaccession, t5.TestedInGTR, t5.PhenotypeIDs, t5.Chromosome, t5.Start, t5.Stop, t5.HGVS_c, t5.HGVS_p, t5.HGVS_g, t5.OtherIDs, t5.Diseases as Disease_ClinVar FROM gb_exome.clinvar_variation_v2_latest as t5 WHERE Assembly ='GRCh37' AND (t5.PhenotypeIDs like '%:220110%' OR t5.otherIDs like '%OMIM Allelic Variant:220110%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	9068
Name:	cytochrome-c oxidase deficiency disease
Definition:	A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.
Alternative IDs:	220110
ParentIDs:
TreeNumbers:
Synonyms:	Complex 4 mitochondrial respiratory chain deficiency; Complex IV deficiency; COX deficiency; Cox deficiency; cytochrome C oxidase deficiency; cytochrome-C oxidase deficiency; deficiency of mitochondrial respiratory chain complex4; isolated COX deficiency; isolated cytochrome C oxidase deficiency; is
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: 220110; MSeqDR : 00012;   Genes: APOPT1; COA5; COX10; COX14; COX20; COX6B1; FASTKD2; PET100; TACO1;