Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B1cc9665f088731270bdc019375c0a2fd> ?p ?o ?g. }
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- B1cc9665f088731270bdc019375c0a2fd hasDbXref "Orphanet:96092" @default.
- B1cc9665f088731270bdc019375c0a2fd type Axiom @default.
- B1cc9665f088731270bdc019375c0a2fd annotatedProperty IAO_0000115 @default.
- B1cc9665f088731270bdc019375c0a2fd annotatedSource MONDO_0019876 @default.
- B1cc9665f088731270bdc019375c0a2fd annotatedTarget "8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum." @default.