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- Bc9c69572916b7d9176d8fe5f382d586f hasDbXref "Orphanet:480864" @default.
- Bc9c69572916b7d9176d8fe5f382d586f type Axiom @default.
- Bc9c69572916b7d9176d8fe5f382d586f annotatedProperty IAO_0000115 @default.
- Bc9c69572916b7d9176d8fe5f382d586f annotatedSource MONDO_0018820 @default.
- Bc9c69572916b7d9176d8fe5f382d586f annotatedTarget "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy." @default.