Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bbd7ea40b58f069ee6ef9215f9a7c80ce> ?p ?o ?g. }
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- Bbd7ea40b58f069ee6ef9215f9a7c80ce hasDbXref "Orphanet:247582" @default.
- Bbd7ea40b58f069ee6ef9215f9a7c80ce type Axiom @default.
- Bbd7ea40b58f069ee6ef9215f9a7c80ce annotatedProperty IAO_0000115 @default.
- Bbd7ea40b58f069ee6ef9215f9a7c80ce annotatedSource MONDO_0016602 @default.
- Bbd7ea40b58f069ee6ef9215f9a7c80ce annotatedTarget "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)." @default.