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- B21d7b7b5199146468d27ebe5b8cee070 NCIT_P378 "NCI" @default.
- B21d7b7b5199146468d27ebe5b8cee070 type Axiom @default.
- B21d7b7b5199146468d27ebe5b8cee070 annotatedProperty IAO_0000115 @default.
- B21d7b7b5199146468d27ebe5b8cee070 annotatedSource NCIT_C35064 @default.
- B21d7b7b5199146468d27ebe5b8cee070 annotatedTarget "An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas." @default.