Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B3b479813f9ecb80341da58c8062a0dea> ?p ?o ?g. }
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- B3b479813f9ecb80341da58c8062a0dea hasDbXref "Orphanet:137834" @default.
- B3b479813f9ecb80341da58c8062a0dea hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B3b479813f9ecb80341da58c8062a0dea type Axiom @default.
- B3b479813f9ecb80341da58c8062a0dea annotatedProperty IAO_0000115 @default.
- B3b479813f9ecb80341da58c8062a0dea annotatedSource MONDO_0009579 @default.
- B3b479813f9ecb80341da58c8062a0dea annotatedTarget "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay." @default.