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:
expandautosomal dominant disease (MONDO:0000426)
Parent Node:
expandmultiple mitochondrial DNA deletion syndrome (MONDO:0016797)
Parent Node:
expandprogressive external ophthalmoplegia with mitochondrial DNA deletions (MONDO:0000090)
..Starting node
..expandautosomal dominant progressive external ophthalmoplegia ()

       Child Nodes:
........expandprogressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 ()  LSDB  L: 00117;
........expandprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 ()  LSDB  L: 00047;
........expandprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 ()  LSDB  L: 00074;
........expandprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ()  LSDB  L: 00048;
........expandprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ()  LSDB  L: 00049;



 Sister Nodes: 
..expandadult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency ()  LSDB  L: 00535;
..expandautosomal dominant progressive external ophthalmoplegia ()
..expandmitochondrial DNA deletion syndrome with progressive myopathy ()  LSDB  L: 00050;
..expandprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 ()  LSDB  L: 00118;
..expandprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ()  LSDB  L: 00534;
..expandprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 ()  LSDB  L: 00510;
..expandprogressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 ()  LSDB  L: 00578;
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:8003
Name:autosomal dominant progressive external ophthalmoplegia
Definition:Autosomal dominant form of progressive external ophthalmoplegia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:adPEO; PEOA1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1; progressive external ophthalmoplegia, autosomal dominant
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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