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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00099 | Leukocyte adhesion deficiency | ... cells, is the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), the predominant hematopoeitic-specific Rho GTPase in neutrophils also ... | Primary immunodeficiency |
ITGB2 [HSA:3689] [KO:K06464] SLC35C1 [HSA:55343] [KO:K15279] FERMT3 [HSA:83706] [KO:K17084] RAC2 [HSA:5880] [KO:K07860] |
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| H00339 | Botulism | Botulism is an acute neuroparalytic illness caused by a botulinum toxin produced by Clostridium botulinum, an anaerobic, gram-positive bacterium. Botulism occurs in four forms: foodborne, wound, infant ... | Bacterial infectious disease | ||
| H01608 |
Cervical dystonia Spasmodic torticollis |
... drugs known to cause dystonia (tardive dystonia), or neurological illness. Intramuscular injections of botulinum toxin (BoNT), have been shown to be efficacious and well tolerated when used to treat CD, and ... | Nervous system disease | ||
| H02414 | Autoinflammation, panniculitis, and dermatosis syndrome | ... dermatosis syndrome (AIPDS) is an auto-inflammatory disease caused by loss-of-function mutations in OTULIN, encoding a deubiquitinase. Patients present with neonatal-onset fever, neutrophilic dermatitis/panniculitis ... | Immune system disease | OTULIN [HSA:90268] [KO:K18343] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |