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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02074 | Knobloch syndrome | Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations ... | Congenital malformation |
(KNO1) COL18A1 [HSA:80781] [KO:K06823] (KNO2) PAK2 [HSA:5062] [KO:K04410] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |