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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02395 | Calvarial doughnut lesions with bone fragility | ... increased spinal and peripheral fractures, and sclerotic, doughnut-shaped lesions in the cranial bones. Novel heterozygous pathogenic variants in the sphingomyelin synthase 2 gene (SGMS2) have been identified. | Musculoskeletal disease | SGMS2 [HSA:166929] [KO:K04714] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |