Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8f4db66599cd01eefc366d5d3eedc07e> ?p ?o ?g. }
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- B8f4db66599cd01eefc366d5d3eedc07e hasDbXref "Orphanet:1001" @default.
- B8f4db66599cd01eefc366d5d3eedc07e hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B8f4db66599cd01eefc366d5d3eedc07e type Axiom @default.
- B8f4db66599cd01eefc366d5d3eedc07e annotatedProperty IAO_0000115 @default.
- B8f4db66599cd01eefc366d5d3eedc07e annotatedSource MONDO_0010886 @default.
- B8f4db66599cd01eefc366d5d3eedc07e annotatedTarget "A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism." @default.