Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf1465ce76c6a5d3b0b6ed77252efaaa1> ?p ?o ?g. }
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- Bf1465ce76c6a5d3b0b6ed77252efaaa1 hasDbXref "Orphanet:51188" @default.
- Bf1465ce76c6a5d3b0b6ed77252efaaa1 type Axiom @default.
- Bf1465ce76c6a5d3b0b6ed77252efaaa1 annotatedProperty IAO_0000115 @default.
- Bf1465ce76c6a5d3b0b6ed77252efaaa1 annotatedSource MONDO_0011229 @default.
- Bf1465ce76c6a5d3b0b6ed77252efaaa1 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.