Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B34401db6ce8ba5c027f2deaf6b88635e> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B34401db6ce8ba5c027f2deaf6b88635e hasDbXref "Orphanet:909" @default.
- B34401db6ce8ba5c027f2deaf6b88635e type Axiom @default.
- B34401db6ce8ba5c027f2deaf6b88635e annotatedProperty IAO_0000115 @default.
- B34401db6ce8ba5c027f2deaf6b88635e annotatedSource MONDO_0008948 @default.
- B34401db6ce8ba5c027f2deaf6b88635e annotatedTarget "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction." @default.