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- Bfd324104b30852dc773988a83dc85ac6 NCIT_P378 "NCI" @default.
- Bfd324104b30852dc773988a83dc85ac6 type Axiom @default.
- Bfd324104b30852dc773988a83dc85ac6 annotatedProperty IAO_0000115 @default.
- Bfd324104b30852dc773988a83dc85ac6 annotatedSource NCIT_C179915 @default.
- Bfd324104b30852dc773988a83dc85ac6 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.