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- B38dccd2c54f933511f0be14085ebaf6b NCIT_P378 "NCI" @default.
- B38dccd2c54f933511f0be14085ebaf6b type Axiom @default.
- B38dccd2c54f933511f0be14085ebaf6b annotatedProperty IAO_0000115 @default.
- B38dccd2c54f933511f0be14085ebaf6b annotatedSource NCIT_C84639 @default.
- B38dccd2c54f933511f0be14085ebaf6b annotatedTarget "A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood." @default.