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- B23c8042dbe71d212296d513bf01acc50 hasDbXref "Orphanet:352447" @default.
- B23c8042dbe71d212296d513bf01acc50 type Axiom @default.
- B23c8042dbe71d212296d513bf01acc50 annotatedProperty IAO_0000115 @default.
- B23c8042dbe71d212296d513bf01acc50 annotatedSource MONDO_0014039 @default.
- B23c8042dbe71d212296d513bf01acc50 annotatedTarget "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported." @default.