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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01192 |
Lysyl hydroxylase 3 deficiency Bone fragility with contractures arterial rupture and deafness |
Lysyl hydroxylase 3 (LH3) deficiency is a connective tissue disorder, caused by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues ... | Congenital malformation | PLOD3 [HSA:8985] [KO:K13646] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |