Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B6b7ae8fd2f65014ebf8d1cf13aec7a10> ?p ?o ?g. }
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- B6b7ae8fd2f65014ebf8d1cf13aec7a10 hasDbXref "Orphanet:71289" @default.
- B6b7ae8fd2f65014ebf8d1cf13aec7a10 type Axiom @default.
- B6b7ae8fd2f65014ebf8d1cf13aec7a10 annotatedProperty IAO_0000115 @default.
- B6b7ae8fd2f65014ebf8d1cf13aec7a10 annotatedSource MONDO_0011555 @default.
- B6b7ae8fd2f65014ebf8d1cf13aec7a10 annotatedTarget "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15)." @default.