Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B6eee4baa9842e8e8a1aefb8985d457ad> ?p ?o ?g. }
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- B6eee4baa9842e8e8a1aefb8985d457ad hasDbXref "Orphanet:1752" @default.
- B6eee4baa9842e8e8a1aefb8985d457ad type Axiom @default.
- B6eee4baa9842e8e8a1aefb8985d457ad annotatedProperty IAO_0000115 @default.
- B6eee4baa9842e8e8a1aefb8985d457ad annotatedSource MONDO_0015772 @default.
- B6eee4baa9842e8e8a1aefb8985d457ad annotatedTarget "Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size." @default.