Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Baf8faa3289dc75a6e26465dd8de77a33> ?p ?o ?g. }
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- Baf8faa3289dc75a6e26465dd8de77a33 hasDbXref "Orphanet:261529" @default.
- Baf8faa3289dc75a6e26465dd8de77a33 type Axiom @default.
- Baf8faa3289dc75a6e26465dd8de77a33 annotatedProperty IAO_0000115 @default.
- Baf8faa3289dc75a6e26465dd8de77a33 annotatedSource MONDO_0016853 @default.
- Baf8faa3289dc75a6e26465dd8de77a33 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.