Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bc2a8f0e6153c85d00cb6270bd44c9e78> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Bc2a8f0e6153c85d00cb6270bd44c9e78 hasDbXref "Orphanet:457193" @default.
- Bc2a8f0e6153c85d00cb6270bd44c9e78 type Axiom @default.
- Bc2a8f0e6153c85d00cb6270bd44c9e78 annotatedProperty IAO_0000115 @default.
- Bc2a8f0e6153c85d00cb6270bd44c9e78 annotatedSource MONDO_0014558 @default.
- Bc2a8f0e6153c85d00cb6270bd44c9e78 annotatedTarget "A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described." @default.