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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02513 | Oculopharyngodistal myopathy | Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and ... | Musculoskeletal disease |
(OPDM1) LRP12 [HSA:29967] [KO:K20050] (OPDM2) GIPC1 [HSA:10755] [KO:K20056] (OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466] (OPDM4) RILPL1 [HSA:353116] [KO:K20173] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |