Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb9f65f555abc417bc325614a6980934b> ?p ?o ?g. }
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- Bb9f65f555abc417bc325614a6980934b hasDbXref "Orphanet:456328" @default.
- Bb9f65f555abc417bc325614a6980934b type Axiom @default.
- Bb9f65f555abc417bc325614a6980934b annotatedProperty IAO_0000115 @default.
- Bb9f65f555abc417bc325614a6980934b annotatedSource MONDO_0010271 @default.
- Bb9f65f555abc417bc325614a6980934b annotatedTarget "X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia." @default.