Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B4a80b7b4086ef7805afef1e946e7efab> ?p ?o ?g. }
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- B4a80b7b4086ef7805afef1e946e7efab hasDbXref "Orphanet:96074" @default.
- B4a80b7b4086ef7805afef1e946e7efab type Axiom @default.
- B4a80b7b4086ef7805afef1e946e7efab annotatedProperty IAO_0000115 @default.
- B4a80b7b4086ef7805afef1e946e7efab annotatedSource MONDO_0019874 @default.
- B4a80b7b4086ef7805afef1e946e7efab annotatedTarget "Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported." @default.