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:
expandmitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies (MONDO:0016578)
..Starting node
..expandmitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes ()

       Child Nodes:
........expand3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ()  LSDB  L: 00484;
........expandBjornstad syndrome ()  LSDB  L: 00084;
........expandexercise intolerance with lactic acidosis ()
........expandfatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency ()
........expandfatal multiple mitochondrial dysfunctions syndrome ()
........expandgracile syndrome ()  LSDB  L: 00104;
........expandmitochondrial complex V (ATP synthase) deficiency nuclear type 2 ()  LSDB  L: 00024;
........expandrenal tubulopathy-encephalopathy-liver failure syndrome ()
........expandsevere neonatal lactic acidosis due to NFS1-ISD11 complex deficiency ()



 Sister Nodes: 
..expandCharcot-Marie-Tooth disease recessive intermediate d ()
..expandCharcot-Marie-Tooth disease type 4K ()
..expandcoenzyme Q10 deficiency ()
..expandcongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ()  LSDB  L: 00045;
..expandfatal infantile encephalocardiomyopathy ()
..expandLeigh disease ()
..expandlethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ()  LSDB  L: 00522;
..expandmitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes ()
..expandmitochondrial disorder due to a defect in mitochondrial protein synthesis ()
..expandmitochondrial DNA maintenance syndrome ()
..expandmitochondrial oxidative phosphorylation disorder with no known mechanism ()
..expandpancreatic insufficiency-anemia-hyperostosis syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17718
Name:mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
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Reference: MedGen:
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MSeqDR Portal