Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bc16a9779e64e59a32ccf6d65d75fc3ee> ?p ?o ?g. }
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- Bc16a9779e64e59a32ccf6d65d75fc3ee hasDbXref "PMID:3231430" @default.
- Bc16a9779e64e59a32ccf6d65d75fc3ee hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bc16a9779e64e59a32ccf6d65d75fc3ee type Axiom @default.
- Bc16a9779e64e59a32ccf6d65d75fc3ee annotatedProperty IAO_0000115 @default.
- Bc16a9779e64e59a32ccf6d65d75fc3ee annotatedSource MONDO_0021856 @default.
- Bc16a9779e64e59a32ccf6d65d75fc3ee annotatedTarget "An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion." @default.