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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expandmitochondrial DNA maintenance syndrome (MONDO:0018121)
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expandmyopathy with eye involvement (MONDO:0020259)
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expandrare disorder with ptosis (MONDO:0020169)
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..expandmitochondrial neurogastrointestinal encephalomyopathy ()

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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17575
Name:mitochondrial neurogastrointestinal encephalomyopathy
Definition:Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
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Synonyms:Mitochondrial neurogastrointestinal encephalopathy; Mitochondrial neurogastrointestinal encephalopathy; mitochondrial neurogastrointestinal encephalopathy syndrome; mitochondrial Neurogastrointestingal encephalopathy; MNGIE; MNGIE syndrome; myoneurogastrointestinal encephalopathy syndrome; oculogast
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