Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B6b5328505ce881032b0b2144f60bb9dd> ?p ?o ?g. }
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- B6b5328505ce881032b0b2144f60bb9dd hasDbXref "Orphanet:75496" @default.
- B6b5328505ce881032b0b2144f60bb9dd type Axiom @default.
- B6b5328505ce881032b0b2144f60bb9dd annotatedProperty IAO_0000115 @default.
- B6b5328505ce881032b0b2144f60bb9dd annotatedSource MONDO_0007526 @default.
- B6b5328505ce881032b0b2144f60bb9dd annotatedTarget "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." @default.