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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00282 | Cryopyrin associated periodic syndrome | Cryopyrin associated periodic syndrome (CAPS) arise from mutations in the NLRP3 gene that encodes cryopyrin. These are autosomal dominant inherited diseases characterized by recurrent inflammatory episodes ... | Immune system disease | |
| H00283 |
Ebola disease Ebola hemorrhagic fever |
Ebola disease, also known as Ebola hemorrhagic fever, is a deadly infectious disease caused by ebolaviruses within the genus Ebolavirus in the family Filoviridae of -ssRNA viruses. Four ebolavirus are ... | Viral infectious disease | |
| H00284 | Crimean-Congo hemorrhagic fever | Crimean-Congo hemorrhagic fever is an often fatal infectious disease caused by Crimean-Congo hemorrhagic fever virus (CCHFV), an orthonairovirus in the order Bunyavirales of -ssRNA viruses, and transmitted ... | Viral infectious disease | |
| H00285 |
Blau syndrome Sarcoidosis, early-onset |
Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and ... | Immune system disease | |
| H00286 | Crohn disease | Crohn disease is a chronic, relapsing inflammatory bowel disease (IBD) characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small ... | Immune system disease | |
| H00287 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoimflammatory disease with early onset, developing erosive arthritis. It is inherited in an autosomal dominant fashion ... | Immune system disease | |
| H00288 |
Familial Mediterranean fever Familial hereditary periodic fever syndromes |
Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an ... | Immune system disease | |
| H00289 |
Recurrent hydatidiform moles Familial biparental hydatidiform |
Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is ... | Reproductive system disease | |
| H00290 | Aicardi-Goutieres syndrome | Aicardi-Goutieres Syndrome (AGS) is an autosomal recessive encephalopathy characterized by basal ganglia and white matter calcification in the presence of chronic cerebrospinal fluid lymphocytosis, and ... | Immune system disease | |
| H00291 |
Familial chilblain lupus (FCL) Chilblain lupus erythematosus (CHLE) |
Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus ... | Immune system disease | |
| H00292 | Hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy (HCM/CMH) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features ... | Cardiovascular disease | hsa05410 Hypertrophic cardiomyopathy |
| H00293 | Arrhythmogenic right ventricular cardiomyopathy | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive ... | Cardiovascular disease | hsa05412 Arrhythmogenic right ventricular cardiomyopathy |
| H00294 | Dilated cardiomyopathy | Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death ... | Cardiovascular disease | hsa05414 Dilated cardiomyopathy |
| H00295 | Viral myocarditis | Myocarditis is clinically defined as cardiac disease associated with inflammation of the myocardium and necrosis and/or degeneration of adjacent myocytes in the absence of an ischemic event. Most often ... | Cardiovascular disease | hsa05416 Viral myocarditis |
| H00296 | Defects in RecQ helicases | RecQ helicases have crucial roles in the maintenance of genome stability. In humans, it is known that deficiencies in four of the five human RecQ helicases cause genetic disorders characterized by cancer ... | Congenital malformation | |
| H00297 | Plague | Plague is a deadly infectious disease caused by Yersinia pestis. The pathogen has rodent reservoirs and is transmitted to humans usually by fleas as vectors. There are three major manifestations: bubonic ... | Bacterial infectious disease | |
| H00298 | Yersiniosis | Yersiniosis (non-plague) is an infectious disease caused by two species, Yersinia enterocolitica and Y. pseudotuberculosis, which is zoonotic, capable of being transmitted from infected animals to man ... | Bacterial infectious disease | hsa05135 Yersinia infection |
| H00299 |
Shigellosis Bacillary dysentery |
Shigellosis (bacillary dysentery) is a foodborne enterobacterial infection caused by Shigella species. There are four subgroups of Shigella: S. dysenteriae, S. flexneri, S. boydii, and S. sonnei. Of these ... | Bacterial infectious disease | hsa05131 Shigellosis |
| H00300 | Enterobacter infection | Enterobacter infections are commonly found in nosocomial settings and Enterobacter spp. have been recognized as increasingly important pathogens. They are intrinsically resistant to aminopenicillins, cefazolin ... | Bacterial infectious disease | |
| H00301 | Klebsiella infection | Klebsiella is a gram-negative bacterium of Enterobacteriaceae, which has emerged as an important cause of hospital-acquired infections. Infections caused by extended-spectrum beta-lactamase (ESBL)-producing ... | Bacterial infectious disease | |
| H00302 | Citrobacter infection | Citrobacter species may cause infections in neonates and immunocompromised hosts. Among them, C. koseri is an important cause of neonatal meningitis and brain abscess formation. Neonates may acquire C ... | Bacterial infectious disease | |
| H00303 | Serratia infection | Serratia species are gram-negative bacilli of the Enterobacteriaceae that cause hospital-acquired infection. Numerous outbreaks have been reported in association with medical devices and neonatal intensive ... | Bacterial infectious disease | |
| H00304 | Haemophilus influenzae infection | Haemophilus influenzae type b (Hib) infections are a major cause of severe infections in children between 2 months and 5 years of age worldwide. It affects approximately 25000 patients each year. Severity ... | Bacterial infectious disease | |
| H00305 | Chancroid | Chancroid is a sexually transmitted disease (STD) caused by the gram-negative, short, slender bacterium Haemophilus ducreyi. It is a classical genito-ulcerative disease accompanied by inguinal lymphadenitis ... | Bacterial infectious disease | |
| H00306 | Pasteurellosis | Pasteurella species are gram-negative facultative anaerobic bacilli found in the animal's oral cavity. Most human infections are caused by dog or cat bites. Disseminated Pasteurella infections can lead ... | Bacterial infectious disease | |
| H00307 | Vibrio parahaemolyticus infection | Vibrio parahaemolyticus is a Gram-negative halophilic bacterium that naturally inhabits marine and estuarine environments. It is a well-recognized pathogen of both aquatic animals and humans. In the case ... | Bacterial infectious disease | |
| H00308 | Vibrio vulnificus infection | Vibrio vulnificus is a gram-negative bacillus found in warm coastal waters. It causes two distinct syndromes: a primary septicemia related to seafood consumption and a necrotizing wound infection acquired ... | Bacterial infectious disease | |
| H00309 | Multidrug-resistant Acinetobacter infection | Acinetobacter baumannii has emerged as a worldwide problem as a nosocomial pathogen in hospitalized patients. It can cause bacteremia, pneumonia, meningitis, urinary tract infection, wound infection, and ... | Bacterial infectious disease | |
| H00310 | Q fever | Q fever is a worldwide zoonosis caused by Coxiella burnetii, a gram-negative obligate intracellular bacterium. This infection has many different reservoirs that mainly consist of dairy cattle. Infection ... | Bacterial infectious disease | |
| H00311 |
Legionellosis Legionnaires disease |
Legionnaires disease (LD), caused by Gram-negative Legionella spp., can be nosocomial, community acquired or travel related. L. pneumophila is the most common cause of LD. The source of LD is potable water ... | Bacterial infectious disease | hsa05134 Legionellosis |
| H00312 | Tularemia | Tularemia is a rare zoonotic infection caused by the bacterium Francisella tularensis. It occurs in North America, Europe, and Asia. The most common clinical presentation is ulceroglandular tularemia with ... | Bacterial infectious disease | |
| H00313 | Multidrug-resistant Pseudomonas aeruginosa infection | Pseudomonas aeruginosa is an opportunistic pathogen that may cause severe invasive diseases in critically ill patients. In the 21st century, when the life expectancy of highly susceptible immunocompromised ... | Bacterial infectious disease | |
| H00314 | Meningococcal infection | Neisseria meningitidis is a gram-negative bacterial pathogen that specifically infects humans. It is a frequent asymptomatic colonizer of the human upper respiratory tract, and most adults are resistant ... | Bacterial infectious disease | |
| H00315 |
Gonococcal infection Gonorrhea |
Gonorrhea is an ancient disease caused by the strict human pathogen Neisseria gonorrhoeae. It remains a major public health concern and multidrug-resistant forms of gonorrhea have been discovered. | Bacterial infectious disease | |
| H00316 | Glanders | Glanders is an infectious disease of equines that can be transmitted to humans. It is usually an occupational disease, affecting individuals in contact with infected animals such as veterinarians, grooms ... | Bacterial infectious disease | |
| H00317 | Melioidosis | Melioidosis (MD) is an infection caused by the gram-negative soil-dwelling bacillus Burkholderia pseudomallei. It predominantly affects people in regular contact with soil and water and is endemic in areas ... | Bacterial infectious disease | |
| H00319 |
Pertussis Whooping cough |
Pertussis, or whooping cough, caused by the gram-negative bacillus Bordetella pertussis, is a highly contagious, acute respiratory disease of humans. Despite high vaccination rates, this illness has re-emerged ... | Bacterial infectious disease | hsa05133 Pertussis |
| H00320 | Helicobacter pylori infection | Helicobacter pylori (HP) is a gram-negative pathogenic bacterium that specifically colonizes in the gastric epithelium and causes chronic gastritis, peptic ulcer disease, and/or gastric malignancies. Persistent ... | Bacterial infectious disease | hsa05120 Epithelial cell signaling in Helicobacter pylori infection |
| H00321 |
Campylobacter infection Campylobacteriosis |
Campylobacter infection is a diarrhoeal disease most commonly caused by Campylobacter jejuni. Campylobacter is a commensal microorganism of the gastrointestinal tract of many wild animals, farm animals ... | Bacterial infectious disease | |
| H00322 | Epidemic typhus | Epidemic typhus is caused by gram-negative rickettsia species in the typhus biogroup that are transmitted by infective louse and flea. The disease is widely distributed in tropical and subtropical areas ... | Bacterial infectious disease |
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