Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B21eb742d0ec4aaf9f04b00b19755be14> ?p ?o ?g. }
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- B21eb742d0ec4aaf9f04b00b19755be14 hasDbXref "Orphanet:1742" @default.
- B21eb742d0ec4aaf9f04b00b19755be14 type Axiom @default.
- B21eb742d0ec4aaf9f04b00b19755be14 annotatedProperty IAO_0000115 @default.
- B21eb742d0ec4aaf9f04b00b19755be14 annotatedSource MONDO_0015768 @default.
- B21eb742d0ec4aaf9f04b00b19755be14 annotatedTarget "Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit." @default.