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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00462 | Stuve-Wiedemann syndrome | Stuve-Wiedemann syndrome is an autosomal recessively inherited disorder characterized by congenital bone dysplasia like bowing of the long bones. Mutations in LIFR result in this disease. | Congenital malformation |
(STWS1) LIFR [HSA:3977] [KO:K05058] (STWS2) IL6ST [HSA:3572] [KO:K05060] |
|
| H01968 |
Hyper-IgE syndrome Job syndrome Buckley syndrome |
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria ... | Immune system disease |
(HIES1) STAT3 [HSA:6774] [KO:K04692] (HIES2) DOCK8 [HSA:81704] [KO:K21852] (HIES3) ZNF341 [HSA:84905] [KO:K24852] (HIES4A/4B) IL6ST [HSA:3572] [KO:K05060] (HIES5) IL6R [HSA:3570] [KO:K05055] (HIES6) STAT6 [HSA:6778] [KO:K11225] (HIES with mycobacteriosis) TYK2 [HSA:7297] [KO:K11219] (HIES and cognitive impairment) PGM3 [HSA:5238] [KO:K01836] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |