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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01887 |
3MC syndrome Malpuech-Michels-Mingarelli-Carnevale syndrome |
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. Patients with 3MC syndrome may exhibit a spectrum of developmental features, including ... | Congenital malformation |
(3MC1) MASP1 [HSA:5648] [KO:K03992] (3MC2) COLEC11 [HSA:78989] [KO:K10066] (3MC3) COLEC10 [HSA:10584] [KO:K10065] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |