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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02744 | Neurofacioskeletal syndrome with or without renal agenesis | ... abnormalities. The majority of patients have renal agenesis. It has been reported that mutations in HS2ST1 cause this syndrome. HS2ST1 is one of several specialized enzymes required for heparan sulfate ... | Congenital malformation | HS2ST1 [HSA:9653] [KO:K02513] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |