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- B3f36868099414fa5dcb69c0c9eab4076 NCIT_P378 "ACC/AHA" @default.
- B3f36868099414fa5dcb69c0c9eab4076 type Axiom @default.
- B3f36868099414fa5dcb69c0c9eab4076 annotatedProperty NCIT_P325 @default.
- B3f36868099414fa5dcb69c0c9eab4076 annotatedSource NCIT_C85232 @default.
- B3f36868099414fa5dcb69c0c9eab4076 annotatedTarget "A genetic syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental developmental delay, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia." @default.