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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02187 | Spondyloepimetaphyseal dysplasia | Spondyloepimetaphyseal dysplasia (SEMD) is a heterogeneous group of skeletal dysplasias (dwarfing disorders) characterized by abnormal epiphyses, with varying degrees of metaphyseal irregularities, flattened ... | Congenital malformation |
(SEMDSTWK) COL2A1 [HSA:1280] [KO:K19719] (SEMDSH) DDRGK1 [HSA:65992] [KO:K23344] (SEMDFA) RSPRY1 [HSA:89970] [KO:K23332] (SEMDDR) UFSP2 [HSA:55325] [KO:K01376] (SEMDIST) RPL13 [HSA:6137] [KO:K02873] (SEMDIK) SIK3 [HSA:23387] [KO:K19009] (SEMDAG) ACAN [HSA:176] [KO:K06792] (SEMDG) NANS [HSA:54187] [KO:K05304] (SEMDSP) TONSL [HSA:4796] [KO:K09257] (SEMDX) BGN [HSA:633] [KO:K08118] (SEMDM) MMP13 [HSA:4322] [KO:K07994] (SEMDHL) AIFM1 [HSA:9131] [KO:K04727] (SEMDGC) ERI1 [HSA:90459] [KO:K18416] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |