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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01301 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | ... calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in JAM3 that encodes tight-junction protein causes this syndrome. | Nervous system disease | JAM3 [HSA:83700] [KO:K06785] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |