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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00418 | Bardet-Biedl syndrome | Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism ... | Inherited metabolic disorder |
(BBS1) BBS1 [HSA:582] [KO:K16746] (BBS2) BBS2 [HSA:583] [KO:K16747] (BBS3) ARL6 [HSA:84100] [KO:K07951] (BBS4) BBS4 [HSA:585] [KO:K16531] (BBS5) BBS5 [HSA:129880] [KO:K16748] (BBS6) MKKS [HSA:8195] [KO:K09492] (BBS7) BBS7 [HSA:55212] [KO:K16749] (BBS8) TTC8 [HSA:123016] [KO:K16781] (BBS9) BBS9 [HSA:27241] [KO:K19398] (BBS10) BBS10 [HSA:79738] [KO:K19401] (BBS11) TRIM32 [HSA:22954] [KO:K10607] (BBS12) BBS12 [HSA:166379] [KO:K19402] (BBS13) MKS1 [HSA:54903] [KO:K19332] (BBS14) CEP290 [HSA:80184] [KO:K16533] (BBS15) WDPCP [HSA:51057] [KO:K22863] (BBS16) SDCCAG8 [HSA:10806] [KO:K16488] (BBS17) LZTFL1 [HSA:54585] [KO:K19400] (BBS18) BBIP1 [HSA:92482] [KO:K19399] (BBS19) IFT27 [HSA:11020] [KO:K07934] (BBS20) IFT172 [HSA:26160] [KO:K19676] (BBS21) CFAP418 [HSA:157657] [KO:K25226] (BBS22) IFT74 [HSA:80173] [KO:K19679] |
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