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- B0551876dab63c43458f1b84a780f865c hasDbXref "Orphanet:26791" @default.
- B0551876dab63c43458f1b84a780f865c hasDbXref "https://doi.org/10.1016/B978-0-323-40139-5.00087-5" @default.
- B0551876dab63c43458f1b84a780f865c hasDbXref "https://github.com/monarch-initiative/mondo/issues/1569" @default.
- B0551876dab63c43458f1b84a780f865c type Axiom @default.
- B0551876dab63c43458f1b84a780f865c annotatedProperty IAO_0000115 @default.
- B0551876dab63c43458f1b84a780f865c annotatedSource MONDO_0009282 @default.
- B0551876dab63c43458f1b84a780f865c annotatedTarget "A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure." @default.