Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bf0569a7f0eb987b89f0ca90c959924db> ?p ?o ?g. }
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- Bf0569a7f0eb987b89f0ca90c959924db hasDbXref "Orphanet:324313" @default.
- Bf0569a7f0eb987b89f0ca90c959924db type Axiom @default.
- Bf0569a7f0eb987b89f0ca90c959924db annotatedProperty IAO_0000115 @default.
- Bf0569a7f0eb987b89f0ca90c959924db annotatedSource MONDO_0017928 @default.
- Bf0569a7f0eb987b89f0ca90c959924db annotatedTarget "9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia)." @default.