Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B1a53caebacd31d96ed9da6345d4946f4> ?p ?o ?g. }
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- B1a53caebacd31d96ed9da6345d4946f4 hasDbXref "Orphanet:191" @default.
- B1a53caebacd31d96ed9da6345d4946f4 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B1a53caebacd31d96ed9da6345d4946f4 type Axiom @default.
- B1a53caebacd31d96ed9da6345d4946f4 annotatedProperty IAO_0000115 @default.
- B1a53caebacd31d96ed9da6345d4946f4 annotatedSource MONDO_0016006 @default.
- B1a53caebacd31d96ed9da6345d4946f4 annotatedTarget "A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit." @default.