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- B7f9b6a7c6e064054e54518c69e4375cd hasDbXref "Orphanet:51188" @default.
- B7f9b6a7c6e064054e54518c69e4375cd type Axiom @default.
- B7f9b6a7c6e064054e54518c69e4375cd annotatedProperty IAO_0000115 @default.
- B7f9b6a7c6e064054e54518c69e4375cd annotatedSource MONDO_0011229 @default.
- B7f9b6a7c6e064054e54518c69e4375cd annotatedTarget "Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities." @default.