Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bbdde6f713f841dce19292846ade8083d> ?p ?o ?g. }
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- Bbdde6f713f841dce19292846ade8083d hasDbXref "Orphanet:48652" @default.
- Bbdde6f713f841dce19292846ade8083d type Axiom @default.
- Bbdde6f713f841dce19292846ade8083d annotatedProperty IAO_0000115 @default.
- Bbdde6f713f841dce19292846ade8083d annotatedSource MONDO_0011652 @default.
- Bbdde6f713f841dce19292846ade8083d annotatedTarget "Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features." @default.