Search Result |
Top |
Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02154 | Omodysplasia | Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican ... | Congenital malformation |
(OMOD1) GPC6 [HSA:10082] [KO:K08112] (OMOD2) FZD2 [HSA:2535] [KO:K02235] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |