Disease Browser            Parent Node: mitochondrial complex deficiency (MONDO:0000066) Parent Node: mitochondrial proton-transporting ATP synthase complex deficiency (MONDO:0014471) ..Starting node ..mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 ()        Child Nodes:  Sister Nodes:  ..combined oxidative phosphorylation deficiency 22 () ..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

Could not execute query 3
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 '%:604273%' OR t5.otherIDs like '%OMIM Allelic Variant:604273%' ) ORDER by GeneSymbol, t5.ClinicalSignificance LIKE 'Patho%' DESC, t5.ClinicalSignificance LIKE '%likely pathog%' DESC, start <1,start;

Term ID:	11421
Name:	mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Definition:	Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
Alternative IDs:	604273
ParentIDs:
TreeNumbers:
Synonyms:	ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency; Complex 5 mitochondrial respiratory chain deficiency; MC5DN1; mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type; mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1; mitochondrial complex V (ATP synt
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: 604273; MSeqDR : 00023;   Genes: ATPAF2;