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
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inborn mitochondrial myopathy (MONDO:0009637)
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mitochondrial disease with eye involvement (MONDO:0020265)
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mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA (MONDO:0016792)
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myopathy with eye involvement (MONDO:0020259)
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rare disorder with ptosis (MONDO:0020169)
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syndrome with a symptomatic strabismus (MONDO:0020253)
..Starting node
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maternally-inherited progressive external ophthalmoplegia ()

       Child Nodes:



 Sister Nodes: 
..expandcat-eye syndrome ()
..expandcongenital fibrosis of extraocular muscles ()
..expandCornelia de Lange syndrome ()
..expandcraniostenosis associated with a strabismus ()
..expandCri-du-chat syndrome ()
..expandDuane retraction syndrome ()
..expandDuane-radial ray syndrome ()
..expandfragile X syndrome ()
..expandhorizontal gaze palsy with progressive scoliosis ()
..expandintellectual disability-strabismus syndrome ()
..expandJoubert syndrome with ocular defect ()
..expandKearns-Sayre syndrome ()  LSDB  L: 00143;
..expandLeigh disease ()
..expandmaternally-inherited progressive external ophthalmoplegia ()
..expandMobius syndrome ()
..expandoculorenocerebellar syndrome ()
..expandsevere hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome ()
..expandsevere intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome ()
..expandTreacher-Collins syndrome ()
..expandtrisomy 13 ()
..expandWaardenburg syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19016
Name:maternally-inherited progressive external ophthalmoplegia
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Synonyms:maternally-inherited chronic progressive external ophthalmoplegia; maternally-inherited CPEO
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal