Search Result |
Top |
Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01494 | SEMD with joint laxity type | Spondyloepimetaphyseal dysplasia with joint laxity type (SEMD-JL) is an autosomal recessive skeletal dysplasia that consists of type 1 (SEMDJL1, SEMD-JL Beighton type) and type 2 (SEMDJL2, SEMD-leptodactylic ... | Congenital malformation |
(SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734] (SEMDJL2) KIF22 [HSA:3835] [KO:K10403] (SEMDJL3) EXOC6B [HSA:23233] [KO:K19985] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |