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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01824 |
CODAS syndrome Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome |
... crumpled ears, epiphyseal dysplasia, and dysmorphic features (grooved nose, ptosis). Recently, mutations in LONP1 gene have been mapped and identified as causative of this disorder. LONP1 encodes Lon protease ... | Congenital malformation | LONP1 [HSA:9361] [KO:K08675] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |