Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B912eb394765c9aeeb0d7cf19e8d48e28> ?p ?o ?g. }
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- B912eb394765c9aeeb0d7cf19e8d48e28 hasDbXref "NCIT:C141424" @default.
- B912eb394765c9aeeb0d7cf19e8d48e28 type Axiom @default.
- B912eb394765c9aeeb0d7cf19e8d48e28 annotatedProperty IAO_0000115 @default.
- B912eb394765c9aeeb0d7cf19e8d48e28 annotatedSource MONDO_0007974 @default.
- B912eb394765c9aeeb0d7cf19e8d48e28 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.