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- Be4d4595ca74174579b47a4d8a079aacd hasDbXref "Orphanet:319171" @default.
- Be4d4595ca74174579b47a4d8a079aacd type Axiom @default.
- Be4d4595ca74174579b47a4d8a079aacd annotatedProperty IAO_0000115 @default.
- Be4d4595ca74174579b47a4d8a079aacd annotatedSource MONDO_0017867 @default.
- Be4d4595ca74174579b47a4d8a079aacd annotatedTarget "Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." @default.