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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02467 | Neonatal inflammatory skin and bowel disease | Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations ... | Immune system disease |
(NISBD1) ADAM17 [HSA:6868] [KO:K06059] (NISBD2) EGFR [HSA:1956] [KO:K04361] |
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| H02702 | Tylosis with esophageal cancer | ... in RHBDF2 cause this disease. RHBDF2 is an inactive rhomboid protease, which has recently been shown to regulate the maturation of the multi-substrate ectodomain sheddase enzyme ADAM17 in macrophages. | Congenital malformation | RHBDF2 [HSA:79651] [KO:K27588] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |