Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00471 | Split-hand/foot malformation | Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by median clefts of hands and foot. Disrupted formation of the apical ectodermal ridge during development results in ... | Congenital malformation |
(SHFM1/1D) DLX5 [HSA:1749] [KO:K18489] (SHFM4) TP63 [HSA:8626] [KO:K10149] (SHFM6) WNT10B [HSA:7480] [KO:K01357] (SFMMP) MAP3K20 [HSA:51776] [KO:K04424] |
|
| H00700 | Centronuclear myopathy | Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic ... | Nervous system disease; Musculoskeletal disease |
(CNMX) MTM1 [HSA:4534] [KO:K01108] (CNM1) DNM2 [HSA:1785] [KO:K23484] (CNM2) BIN1 [HSA:274] [KO:K12562] (CNM3) MYF6 [HSA:4618] [KO:K18485] (CNM4) CCDC78 [HSA:124093] [KO:K23693] (CNM5) SPEG [HSA:10290] [KO:K08809] (CNM6) MAP3K20 [HSA:51776] [KO:K04424] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |