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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00136 | Niemann-Pick disease type C | ... disease type C is an autosomal recessive lysosomal lipid storage disorder caused by a defect of NPC1 or NPC2 involved in cholesterol trafficking. The disease is characterized by neurodegeneration starting ... | Inherited metabolic disorder, Lysosomal disease |
(NPC1/ D) NPC1 [HSA:4864] [KO:K12385] (NPC2) NPC2 [HSA:10577] [KO:K13443] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |