MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandmitochondrial oxidative phosphorylation disorder (MONDO:0016387)
..Starting node
..expandcombined oxidative phosphorylation deficiency ()

       Child Nodes:
........expandcombined oxidative phosphorylation defect type 11 ()  LSDB  L: 00423;
........expandcombined oxidative phosphorylation defect type 13 ()  LSDB  L: 00512;
........expandcombined oxidative phosphorylation defect type 14 ()  LSDB  L: 00094;
........expandcombined oxidative phosphorylation defect type 15 ()  LSDB  L: 00095;
........expandcombined oxidative phosphorylation defect type 17 ()  LSDB  L: 00513;
........expandcombined oxidative phosphorylation defect type 2 ()  LSDB  L: 00096;
........expandcombined oxidative phosphorylation defect type 20 ()  LSDB  L: 00515;
........expandcombined oxidative phosphorylation defect type 21 ()  LSDB  L: 00501;
........expandcombined oxidative phosphorylation defect type 23 ()  LSDB  L: 00516;
........expandcombined oxidative phosphorylation defect type 24 ()  LSDB  L: 00517;
........expandcombined oxidative phosphorylation defect type 25 ()  LSDB  L: 00503;
........expandcombined oxidative phosphorylation defect type 26 ()  LSDB  L: 00518;
........expandcombined oxidative phosphorylation defect type 27 ()  LSDB  L: 00519;
........expandcombined oxidative phosphorylation defect type 30 ()  LSDB  L: 00521;
........expandcombined oxidative phosphorylation defect type 4 ()  LSDB  L: 00098;
........expandcombined oxidative phosphorylation defect type 7 ()  LSDB  L: 00493;
........expandcombined oxidative phosphorylation defect type 8 ()  LSDB  L: 00076;
........expandcombined oxidative phosphorylation defect type 9 ()  LSDB  L: 00100;
........expandcombined oxidative phosphorylation deficiency 19 ()  LSDB  L: 00500;
........expandcombined oxidative phosphorylation deficiency 29 ()  LSDB  L: 00504;
........expandcombined oxidative phosphorylation deficiency 32 ()  LSDB  L: 00523;
........expandcombined oxidative phosphorylation deficiency 33 ()  LSDB  L: 00524;
........expandcombined oxidative phosphorylation deficiency 34 ()  LSDB  L: 00563;
........expandcombined oxidative phosphorylation deficiency 35 ()  LSDB  L: 00564;
........expandcombined oxidative phosphorylation deficiency 36 ()  LSDB  L: 00565;
........expandfatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ()  LSDB  L: 00097;
........expandgrowth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome ()  LSDB  L: 00514;
........expandhepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ()  LSDB  L: 00092;
........expandhypotonia with lactic acidemia and hyperammonemia ()  LSDB  L: 00099;
........expandinfantile hypertrophic cardiomyopathy due to MRPL44 deficiency ()  LSDB  L: 00080;
........expandlethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ()  LSDB  L: 00522;
........expandleukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome ()  LSDB  L: 00511;
........expandmitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency ()  LSDB  L: 00093;
........expandmitochondrial proton-transporting ATP synthase complex deficiency ()  LSDB  L: 00502;
........expandneonatal severe cardiopulmonary failure due to mitochondrial methylation defect ()  LSDB  L: 00520;
........expandsevere X-linked mitochondrial encephalomyopathy ()  LSDB  L: 00411;



 Sister Nodes: 
..expandcombined oxidative phosphorylation deficiency ()
..expandisolated oxidative phosphorylation complex disorder ()
..expandmitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies ()
..expandmitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:732
Name:combined oxidative phosphorylation deficiency
Definition:A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respirartory chain complexes.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes: STRA6;
Phenotypes
Disease Causing ClinVar Variants
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