Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B751a8263feb02cb1d06ced730c87b8db> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B751a8263feb02cb1d06ced730c87b8db hasDbXref "Orphanet:261222" @default.
- B751a8263feb02cb1d06ced730c87b8db type Axiom @default.
- B751a8263feb02cb1d06ced730c87b8db annotatedProperty IAO_0000115 @default.
- B751a8263feb02cb1d06ced730c87b8db annotatedSource MONDO_0013267 @default.
- B751a8263feb02cb1d06ced730c87b8db annotatedTarget "Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated." @default.