Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bec578e1dc648b0d8b726fc92c7852b6b> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bec578e1dc648b0d8b726fc92c7852b6b hasDbXref "Orphanet:250999" @default.
- Bec578e1dc648b0d8b726fc92c7852b6b type Axiom @default.
- Bec578e1dc648b0d8b726fc92c7852b6b annotatedProperty IAO_0000115 @default.
- Bec578e1dc648b0d8b726fc92c7852b6b annotatedSource MONDO_0012927 @default.
- Bec578e1dc648b0d8b726fc92c7852b6b annotatedTarget "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." @default.