Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8458f7c022ac5dc39ec196baf1360027> ?p ?o ?g. }
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- B8458f7c022ac5dc39ec196baf1360027 hasDbXref "Orphanet:261529" @default.
- B8458f7c022ac5dc39ec196baf1360027 type Axiom @default.
- B8458f7c022ac5dc39ec196baf1360027 annotatedProperty IAO_0000115 @default.
- B8458f7c022ac5dc39ec196baf1360027 annotatedSource MONDO_0016853 @default.
- B8458f7c022ac5dc39ec196baf1360027 annotatedTarget "Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed." @default.