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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00496 | Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) | ... (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL, an enzyme involved in cholesterol biosynthesis leads to the condition. | Congenital malformation | NSDHL [HSA:50814] [KO:K07748] | |
| H01917 | CK syndrome | ... attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. CK syndrome is caused by mutations in NSDHL, a gene that encodes an enzyme in the cholesterol biosynthesis pathway. | Congenital malformation | NSDHL [HSA:50814] [KO:K07748] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |