Preferred Label : ethylmalonic encephalopathy;
MeSH note : clinical heterogeneity exists; early-onset encephalopathy, developmental delay and
regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea, microangiopathy,
and ethylmalonic acid in urine; see ETHE1 protein, human (C483228);
MeSH synonym : syndrome of encephalopathy, petechiae, and ethylmalonic aciduria; encephalopathy, ethylmalonic; encephalopathy, petechiae, and ethylmalonic aciduria; epema syndrome;
Origin ID : C535737;
UMLS CUI : C1865349;
Currated CISMeF NLP mapping
DO Cross reference
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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=51188
2007
true
France
French
ethylmalonic encephalopathy
scientific and technical information
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