Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bfc466cd936930b05167693b5105ba24d> ?p ?o ?g. }
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- Bfc466cd936930b05167693b5105ba24d hasDbXref "Orphanet:428" @default.
- Bfc466cd936930b05167693b5105ba24d type Axiom @default.
- Bfc466cd936930b05167693b5105ba24d annotatedProperty IAO_0000115 @default.
- Bfc466cd936930b05167693b5105ba24d annotatedSource MONDO_0018543 @default.
- Bfc466cd936930b05167693b5105ba24d annotatedTarget "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." @default.