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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01960 | Muscular dystrophy-dystroglycanopathy type B | Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy ... | Inherited metabolic disorder |
(MDDGB1) POMT1 [HSA:10585] [KO:K00728] (MDDGB2) POMT2 [HSA:29954] [KO:K00728] (MDDGB3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGB4) FKTN [HSA:2218] [KO:K19872] (MDDGB5/MDC1C) FKRP [HSA:79147] [KO:K19873] (MDDGB6/MDC1D) LARGE1 [HSA:9215] [KO:K09668] (MDDGB14) GMPPB [HSA:29925] [KO:K00966] (MDDGB15) DPM3 [HSA:54344] [KO:K09659] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |