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- B9789f71dbf9263b41ea0a35c76f52710 NCIT_P378 "NCI" @default.
- B9789f71dbf9263b41ea0a35c76f52710 type Axiom @default.
- B9789f71dbf9263b41ea0a35c76f52710 annotatedProperty IAO_0000115 @default.
- B9789f71dbf9263b41ea0a35c76f52710 annotatedSource NCIT_C179915 @default.
- B9789f71dbf9263b41ea0a35c76f52710 annotatedTarget "A rare, autosomal dominant hereditary syndrome caused by germline mutation in the PTEN gene. It manifests with macrocephaly, neurocognitive deficits, hamartomas in multiple locations, polyposis, vascular abnormalities, and an increased risk of developing malignant tumors, particularly breast, thyroid, and endometrial carcinoma." @default.