Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf8a3fd73e8a9836073d6f0cbcf4baf0b> ?p ?o ?g. }
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- Bf8a3fd73e8a9836073d6f0cbcf4baf0b NCIT_P378 "NCI" @default.
- Bf8a3fd73e8a9836073d6f0cbcf4baf0b type Axiom @default.
- Bf8a3fd73e8a9836073d6f0cbcf4baf0b annotatedProperty IAO_0000115 @default.
- Bf8a3fd73e8a9836073d6f0cbcf4baf0b annotatedSource NCIT_C75470 @default.
- Bf8a3fd73e8a9836073d6f0cbcf4baf0b 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.