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 oxidative phosphorylation disorder with no known mechanism ()

       Child Nodes:
........expandautosomal dominant mitochondrial myopathy with exercise intolerance ()  LSDB  L: 00509;
........expandautosomal dominant optic atrophy and peripheral neuropathy ()
........expandautosomal dominant optic atrophy, classic form ()  LSDB  L: 00073;
........expandautosomal recessive optic atrophy, OPA7 type ()
........expandencephalopathy due to defective mitochondrial and peroxisomal fission ()
........expandFASTKD2-related infantile mitochondrial encephalomyopathy ()
........expandgrowth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome ()  LSDB  L: 00514;
........expandnon-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ()
........expandoptic atrophy 3 ()
........expandZellweger-like syndrome without peroxisomal anomalies ()



 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:16799
Name:mitochondrial oxidative phosphorylation disorder with no known mechanism
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:OXPHOS disease with no known mechanism
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal