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- B5e71169726e22f3cb3c3bbe42dba3fcb NCIT_P378 "NCI" @default.
- B5e71169726e22f3cb3c3bbe42dba3fcb type Axiom @default.
- B5e71169726e22f3cb3c3bbe42dba3fcb annotatedProperty IAO_0000115 @default.
- B5e71169726e22f3cb3c3bbe42dba3fcb annotatedSource NCIT_C75470 @default.
- B5e71169726e22f3cb3c3bbe42dba3fcb annotatedTarget "A genetic syndrome caused by microdeletions in chromosome 17q21. The microdeletions encompass the MAPT and CRHR1 genes. It is characterized by mental retardation, hypotonia, distinctive facial features (long face, low-set ears, and pear-shaped nose), friendly behavior, and heart defects." @default.