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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01393 |
Van Maldergem syndrome Cerebro-facio-articular syndrome |
... hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS. | Congenital malformation |
(VMLDS1) DCHS1 [HSA:8642] [KO:K16507] (VMLDS2) FAT4 [HSA:79633] [KO:K16669] |
|
| H01868 | Mitral valve prolapse | Mitral valve prolapse (MVP) is a very common clinical condition that refers to a systolic billowing of one or both mitral valve leaflets into the left atrium. MVP can be associated with significant mitral ... | Cardiovascular disease |
(MVP2) DCHS1 [HSA:8642] [KO:K16507] (MVP3) DZIP1 [HSA:22873] [KO:K16470] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |