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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02246 | Ehlers-Danlos syndrome musculocontractural type | Ehlers-Danlos syndrome musculocontractural type (EDSMC) is an autosomal recessive disorder characterized by connective tissue fragility, craniofacial abnormalities, congenital contractures, and developmental ... | Congenital malformation |
(EDSMC1) CHST14 [HSA:113189] [KO:K08105] (EDSMC2) DSE [HSA:29940] [KO:K01794] |
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| H02497 | Smith-McCort dysplasia | Smith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epimetaphyseal dysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen disease [DS:H00757] but with normal intelligence ... | Congenital malformation |
(SMC1) DYM [HSA:54808] [KO:K23951] (SMC2) RAB33B [HSA:83452] [KO:K07920] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |