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- Bb54d453d4d58d7ce88d3b4f6b40f497e NCIT_P378 "NCI" @default.
- Bb54d453d4d58d7ce88d3b4f6b40f497e type Axiom @default.
- Bb54d453d4d58d7ce88d3b4f6b40f497e annotatedProperty IAO_0000115 @default.
- Bb54d453d4d58d7ce88d3b4f6b40f497e annotatedSource NCIT_C84764 @default.
- Bb54d453d4d58d7ce88d3b4f6b40f497e annotatedTarget "A hereditary disorder of iron metabolism caused by mutations in the HFE gene. It is characterized by increased absorption of iron in the gastrointestinal mucosa. It results in abnormal iron accumulation in the liver, pancreas, skin, joints, heart, and testes. It may lead to skin pigmentation, liver failure, heart failure, and hypogonadism." @default.