Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B833b9bd12696d563af3b03bc90ff87af> ?p ?o ?g. }
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- B833b9bd12696d563af3b03bc90ff87af hasDbXref "Orphanet:96182" @default.
- B833b9bd12696d563af3b03bc90ff87af type Axiom @default.
- B833b9bd12696d563af3b03bc90ff87af annotatedProperty IAO_0000115 @default.
- B833b9bd12696d563af3b03bc90ff87af annotatedSource MONDO_0019913 @default.
- B833b9bd12696d563af3b03bc90ff87af annotatedTarget "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders)." @default.