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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01297 | Neutral lipid storage disease with myopathy | ... cytoplasmic droplets. Neutral lipid storage disease with myopathy is the subgroup of NLSDM, characterized by mild myopathy, absence of ichthyosis and mutations in adipose triglyceride lipase (PNPLA2). | Inherited metabolic disorder | PNPLA2 [HSA:57104] [KO:K16816] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |