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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01498 |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Larsen-like syndrome |
... termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosyntheses. The mutation results in ... | Inherited metabolic disorder | B3GAT3 [HSA:26229] [KO:K10158] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |