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- B1eb53b155a811cdf7c7e08297fc70a9b NCIT_P378 "NCI" @default.
- B1eb53b155a811cdf7c7e08297fc70a9b type Axiom @default.
- B1eb53b155a811cdf7c7e08297fc70a9b annotatedProperty IAO_0000115 @default.
- B1eb53b155a811cdf7c7e08297fc70a9b annotatedSource NCIT_C114767 @default.
- B1eb53b155a811cdf7c7e08297fc70a9b annotatedTarget "An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life." @default.