Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bbf4e48948a3d24d64f2996fda1e623cf> ?p ?o ?g. }
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- Bbf4e48948a3d24d64f2996fda1e623cf hasDbXref "NCIT:C141424" @default.
- Bbf4e48948a3d24d64f2996fda1e623cf type Axiom @default.
- Bbf4e48948a3d24d64f2996fda1e623cf annotatedProperty IAO_0000115 @default.
- Bbf4e48948a3d24d64f2996fda1e623cf annotatedSource MONDO_0007974 @default.
- Bbf4e48948a3d24d64f2996fda1e623cf annotatedTarget "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." @default.