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- NCIT_C98641 IAO_0000115 "Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma." @default.
- NCIT_C98641 NCIT_A13 NCIT_C177195 @default.
- NCIT_C98641 NCIT_NHC0 "C98641" @default.
- NCIT_C98641 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C98641 NCIT_P108 "Tyrosinemia Type I" @default.
- NCIT_C98641 NCIT_P207 "C3844598" @default.
- NCIT_C98641 NCIT_P322 "CCPS" @default.
- NCIT_C98641 NCIT_P322 "Cellosaurus" @default.
- NCIT_C98641 NCIT_P322 "NICHD" @default.
- NCIT_C98641 NCIT_R176 NCIT_C16612 @default.
- NCIT_C98641 NCIT_R176 NCIT_C177195 @default.
- NCIT_C98641 NCIT_R176 NCIT_C21281 @default.
- NCIT_C98641 NCIT_R176 NCIT_C25804 @default.
- NCIT_C98641 normalizedInformationContent "100" @default.
- NCIT_C98641 referenceCount "1" @default.
- NCIT_C98641 hasExactSynonym "Type I Tyrosinemia" @default.
- NCIT_C98641 hasExactSynonym "Tyrosinemia Type I" @default.
- NCIT_C98641 inSubset NCIT_C165258 @default.
- NCIT_C98641 inSubset NCIT_C177281 @default.
- NCIT_C98641 inSubset NCIT_C177516 @default.
- NCIT_C98641 inSubset NCIT_C192842 @default.
- NCIT_C98641 inSubset NCIT_C90259 @default.
- NCIT_C98641 inSubset NCIT_C99147 @default.
- NCIT_C98641 type Class @default.
- NCIT_C98641 isDefinedBy ncit.owl @default.
- NCIT_C98641 label "Tyrosinemia Type I" @default.
- NCIT_C98641 subClassOf B5e2b512f5a0d53c8fe8b7ee23f4dc788 @default.
- NCIT_C98641 subClassOf Bf948924af66819563d37510eb4e45ab3 @default.
- NCIT_C98641 subClassOf NCIT_C2991 @default.
- NCIT_C98641 subClassOf NCIT_C3235 @default.
- NCIT_C98641 subClassOf NCIT_C34816 @default.
- NCIT_C98641 subClassOf NCIT_C53529 @default.
- NCIT_C98641 subClassOf NCIT_C53547 @default.
- NCIT_C98641 subClassOf NCIT_C7057 @default.
- NCIT_C98641 subClassOf NCIT_C97090 @default.
- NCIT_C98641 subClassOf NCIT_C98640 @default.
- NCIT_C98641 subClassOf NCIT_C98641 @default.