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- Bd61fa6c0a5f1cb2aa13837bb643bc27d hasDbXref "Orphanet:882" @default.
- Bd61fa6c0a5f1cb2aa13837bb643bc27d type Axiom @default.
- Bd61fa6c0a5f1cb2aa13837bb643bc27d annotatedProperty IAO_0000115 @default.
- Bd61fa6c0a5f1cb2aa13837bb643bc27d annotatedSource MONDO_0010161 @default.
- Bd61fa6c0a5f1cb2aa13837bb643bc27d annotatedTarget "Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone." @default.