MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
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inborn mitochondrial metabolism disorder (MONDO:0004069)
..Starting node
..expand
mitochondrial complex deficiency ()

       Child Nodes:
........expandcytochrome-c oxidase deficiency disease ()  LSDB  L: 00012;
........expandmitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 ()  LSDB  L: 00579;
........expandmitochondrial complex I deficiency ()  LSDB  L: 00011;
........expandmitochondrial complex II deficiency ()  LSDB  L: 00016;
........expandmitochondrial complex III deficiency ()
........expandmitochondrial complex V (ATP synthase) deficiency nuclear type 2 ()  LSDB  L: 00024;
........expandmitochondrial complex V (ATP synthase) deficiency nuclear type 3 ()  LSDB  L: 00025;
........expandmitochondrial complex V (ATP synthase) deficiency nuclear type 4 ()  LSDB  L: 00010;
........expandmitochondrial complex V (ATP synthase) deficiency, nuclear type 1 ()  LSDB  L: 00023;



 Sister Nodes: 
..expandhypotonia-cystinuria syndrome type 1 ()
..expandinborn mitochondrial myopathy ()  LSDB  L: 00400;
..expandinherited lipoic acid biosynthesis defect ()
..expandmitochondrial complex deficiency ()
..expandmitochondrial disease with dilated cardiomyopathy ()
..expandmitochondrial disease with epilepsy ()
..expandmitochondrial disease with hypertrophic cardiomyopathy ()
..expandmitochondrial disease with peripheral neuropathy ()
..expandmitochondrial membrane transport disorder ()
..expandmitochondrial oxidative phosphorylation disorder ()
..expandunspecified inborn mitochondrial disorder ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:66
Name:mitochondrial complex deficiency
Definition:
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal