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- Q42863605 description "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption" @default.
- Q42863605 name "congenital bile acid synthesis defect 1" @default.
- Q42863605 type Item @default.
- Q42863605 label "congenital bile acid synthesis defect 1" @default.
- Q42863605 altLabel "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" @default.
- Q42863605 altLabel "BASD1" @default.
- Q42863605 altLabel "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1" @default.
- Q42863605 altLabel "BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1" @default.
- Q42863605 altLabel "Bile Acid Synthesis Defect, Congenital, type 1" @default.
- Q42863605 altLabel "CBAS1" @default.
- Q42863605 altLabel "congenital bile acid synthesis defect type 1" @default.
- Q42863605 prefLabel "congenital bile acid synthesis defect 1" @default.
- Q42863605 P11430 Q42863605-2ffef37b-4101-5a87-2654-51324accdb13 @default.
- Q42863605 P1550 Q42863605-B62D48FE-2DC0-4164-82D9-548BD6EFA6E0 @default.
- Q42863605 P2293 Q42863605-A55C3A02-B746-47AC-9E0D-689A458BDD64 @default.
- Q42863605 P279 Q42863605-12E6B3DC-4142-4C81-A34B-326CD6A54AEE @default.
- Q42863605 P279 Q42863605-732224C8-F1EC-4E5A-891E-86C54A7C8D07 @default.
- Q42863605 P2888 Q42863605-57B026CA-7728-48E1-AED7-794B450E5244 @default.
- Q42863605 P2888 Q42863605-777915ED-236B-44E8-A8BF-E0912B19F4F7 @default.
- Q42863605 P2888 Q42863605-FCB9D891-9A65-4326-B93C-D3FB57E58F95 @default.
- Q42863605 P2892 Q42863605-8331A864-FD89-49F3-8BC7-35AF67415888 @default.
- Q42863605 P31 Q42863605-41FCCF56-6782-4C01-B26D-03B2FCEB9E7E @default.
- Q42863605 P31 Q42863605-962D867C-1173-40D6-8219-5CA860DDFDF2 @default.
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- Q42863605 P4317 Q42863605-99978978-359B-4D02-B1BF-6E0D6133E0AA @default.
- Q42863605 P486 Q42863605-59F59360-1568-48F7-AEAA-0351FC8F02E3 @default.
- Q42863605 P486 Q42863605-9EF24FDB-4471-429A-A43F-EA2EF8D4BC2F @default.
- Q42863605 P492 Q42863605-3165BF92-3E93-4DF9-90F1-2941E1C5BDEE @default.
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- Q42863605 P5270 Q42863605-24135806-6A87-4C68-8118-9206F4200BD2 @default.
- Q42863605 P699 Q42863605-8BB2C448-3D0D-4D7C-A999-C7B534167BAB @default.
- Q42863605 P486 C535442 @default.
- Q42863605 P5270 MONDO_0011906 @default.
- Q42863605 P699 DOID_DOID:0111071 @default.
- Q42863605 P11430 "DI-00329" @default.
- Q42863605 P1550 "79301" @default.
- Q42863605 P2293 Q18046679 @default.
- Q42863605 P279 Q200779 @default.
- Q42863605 P279 Q9398222 @default.
- Q42863605 P2888 DOID:0111071 @default.
- Q42863605 P2888 DOID_0111071 @default.
- Q42863605 P2888 Orphanet_79301 @default.
- Q42863605 P2892 "C1843116" @default.
- Q42863605 P31 Q112193867 @default.
- Q42863605 P31 Q929833 @default.
- Q42863605 P4229 "K76.8" @default.
- Q42863605 P4317 "9813" @default.
- Q42863605 P486 "C535442" @default.
- Q42863605 P492 "607765" @default.
- Q42863605 P5008 Q4099686 @default.
- Q42863605 P5270 "MONDO_0011906" @default.
- Q42863605 P699 "DOID:0111071" @default.