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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01043 |
Onchocerciasis River blindness Robles disease |
Human onchocerciasis is an infection caused by the filarial nematode Onchocerca volvulus transmitted by Simulium blackflies. The disease is endemic in sub-Saharan African countries, the Arabian peninsula ... | Parasitic infectious disease | |
| H01044 |
Dracunculiasis Guinea worm disease |
Dracunculiasis, or guinea worm disease, is a parasitic disease caused by the nematode Dracunculiasis medinensis. It is limited to mostly remote rural communities that do not have access to safe drinking ... | Parasitic infectious disease | |
| H01045 | Schistosomiasis | Schistosomiasis is a parasitic disease caused by trematode worms of the genus Schistosoma. Schistosomiasis is one of the most devastating tropical diseases in the world, and WHO estimates 600 million people ... | Parasitic infectious disease | |
| H01046 | Trichuriasis | Trichuriasis is a parasitic disease caused by the whipworm Trichuris trichiura, which is prevalent, particularly in tropical and subtropical areas. The infections occur by ingestion of embryonated eggs ... | Parasitic infectious disease | |
| H01047 | Cysticercosis | Taenia solium, the pork tapeworm, is endemic in many poorer countries of Latin America, Africa, and Asia, where pigs are raised. Human infection with T. solium occurs after ingestion of undercooked pork ... | Parasitic infectious disease | |
| H01048 |
Liver fluke disease Fascioliasis |
Fascioliasis is a foodborne zoonotic disease caused by the liver flukes Fasciola hepatica and Fasciola gigantica. Whereas in Europe, the Americas and Oceania only F. hepatica is concerned, the distributions ... | Parasitic infectious disease | |
| H01049 | Gordonia bronchialis infection | Gordonia species are aerobic actinomycetes recently recognized as causing human disease in immunocompromised and immunocompetent patients. Gordonia bronchialis has been isolated from cases of bacteremia ... | Bacterial infectious disease | |
| H01050 | Tsukamurella infection | Tsukamurella species are aerobic gram-positive rods from the order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis ... | Bacterial infectious disease | |
| H01051 | Corynebacterium ulcerans infection | Human infections with toxigenic Corynebacterium ulcerans cause respiratory diphtheria-like illness. It can be fatal in unvaccinated patients and usually occur in adults, who consumed raw milk or had close ... | Bacterial infectious disease | |
| H01052 | Molluscum contagiosum | Molluscum contagiosum is a highly contagious poxvirus infection of the mucous membranes and skin that usually affects school-aged children. The infection is transmitted by close physical contact, fomites ... | Viral infectious disease | |
| H01053 | Paroxysmal nocturnal hemoglobinuria | Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene ... | Hematologic disease | |
| H01054 | Pediculosis | Pediculosis is the result of infestation by Pediculus humanus capitis (head louse) and Pediculus humanus corporis (body louse), sucking lice belonging to the family Pediculidae. Head louse is transmitted ... | Parasitic infectious disease | |
| H01055 |
Giant kidney worm infection Dioctophymosis |
Dioctophyma renale is a parasite of the Dioctophymidae family that principally occurs in dogs or other carnivores. Humans are accidental definitive hosts. Ingested Dioctophyma larvae migrate into the right ... | Parasitic infectious disease | |
| H01056 | Toxocariasis | Human toxocariasis is the disease caused by infection of zoonotic roundworms Toxocara canis and T. cati, whose definitive hosts are dogs and cats, respectively. Humans become infected by ingesting either ... | Parasitic infectious disease | |
| H01057 | Gnathostomiasis | Gnathostomiasis is a parasitic infection caused by the helminths Gnathostoma species, which are endemic to tropical and subtropical regions. Humans usually become infected by eating raw freshwater fish ... | Parasitic infectious disease | |
| H01058 | Anisakiasis | Anisakiasis is an acute gastrointestinal disease caused by infection with the larval stages of herring worm (Anisakis spp.) or the cod worm (Pseudoterranova decipiens). Humans can be accidental hosts by ... | Parasitic infectious disease | |
| H01059 | Capnocytophaga canimorsus infection | Capnocytophaga canimorsus is a fastidious, gram-negative commensal bacterium in the normal oral flora of dogs and cats. The bacterium has been isolated from humans infected by dog, or cat bites, scratches ... | Bacterial infectious disease | |
| H01060 | Babesiosis | Babesiosis is a malaria-like infection of red blood cells caused by the protozoan parasite Babesia species. It is a well-recognized veterinary disease in cattle, horses and dogs but recently has gained ... | Parasitic infectious disease | |
| H01061 | Mansonelliasis | Mansonelliasis is one of the filarial nematode infections widespread in many parts of Sub-Saharan Africa and in parts of Central and South America. The nematode, Mansonella perstans, is transmitted by ... | Parasitic infectious disease | |
| H01062 | Histoplasmosis | Histoplasmosis is a disease caused by the fungus Histoplasma capsulatum that occurs in temperate and tropical climates. It is one of the most frequent invasive fungal infections in immunocompromised patients ... | Fungal infectious disease | |
| H01063 | Human metapneumovirus infection | Human metapneumovirus (hMPV) is an emerging human respiratory pathogen first reported in 2001. hMPV is widely distributed that nearly all individuals have been exposed to the virus by age of 5 years. It ... | Viral infectious disease | |
| H01064 | Simkania negevensis infection | Simkania negevensis is a recently found Chlamydia-like organism. It is associated with respiratory diseases such as pneumonia in adults and bronchiolitis in infants. | Bacterial infectious disease | |
| H01065 | Pentosuria | Pentosuria is an autosomal recessive inherited condition to be inborn errors of metabolism characterized by high levels of the pentose sugar L-xylulose in blood and urine. The condition is completely clinically ... | Inherited metabolic disorder | |
| H01066 | Bordetella petrii infection | Bordetella petrii is one of the members of the genus Bordetella, that includes human pathogen B. pertussis. Unlike other members of Bordetella, B. petrii is an environmental species but sometimes can infect ... | Bacterial infectious disease | |
| H01067 | Proteus mirabilis infection | Proteus mirabilis is a motile gram-negative bacterium within the Enterobacteriaceae, that inhabits the environment. It causes a number of infections including those of the skin, respiratory tract, wounds ... | Bacterial infectious disease | |
| H01068 | Aggregatibacter aphrophilus infection | Aggregatibacter aphrophilus (formerly Haemophilus aphrophilus) is a capnophilic, fermentative, non-motile, gram-negative coccobacillus, that is part of the indigenous microbiota of the human oropharynx ... | Bacterial infectious disease | |
| H01069 | Stenotrophomonas maltophilia infection | Stenotrophomonas maltophilia is a ubiquitous organism found in practically all natural environments with water content. In hospital environments, it is frequently found as a contaminant in many devices ... | Bacterial infectious disease | |
| H01070 | Vibrio furnissii infection | Vibrio furnissii, first described as a gasproducing biovar of V. fluvialis, is associated with human acute gastroenteritis. The pathology of V. furnissii in gastroenteritis is potentially related to hemolysin ... | Bacterial infectious disease | |
| H01071 | Acute alcohol sensitivity | Aldehyde dehydrogenases (ALDHs) are important enzymes that eliminate toxic aldehydes by catalysing their oxidation to non-reactive acids. It is reported that a deficiency in the ALDH2 is associated with ... | Inherited metabolic disorder | |
| H01072 | Moraxella catarrhalis infection | Moraxella catarrhalis is a gram-negative human mucosal pathogen that is morphologically similar to Neisseria spp. It is found as a common commensal of the nasopharynx and can cause upper respiratory tract ... | Bacterial infectious disease | |
| H01073 | Shewanella infection | Shewanella putrefaciens and Shewanella algae, which are frequently found in non-human sources, are opportunistically pathogenic for humans. Shewanella infection is associated with a wide clinical spectrum ... | Bacterial infectious disease | |
| H01074 | Aeromonas infection | Members of the genus Aeromonas are gram-negative bacteria that inhabit various aquatic environments. It can cause a wide spectrum of disease in humans as well as other animals, with gastroenteritis being ... | Bacterial infectious disease | |
| H01075 | Peters anomaly | Peters anomaly is a subtype of anterior segment dysgenesis. It is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of ... | Congenital malformation | |
| H01076 |
Beta-ketothiolase deficiency Alpha-methylacetoacetic aciduria |
Beta-ketothiolase deficiency/Alpha-methylacetoacetic aciduria is an autosomal recessive error of isoleucine and ketone body catabolism caused by a deficiency of mitochondrial acetoacetyl-CoA thiolase. ... | Inherited metabolic disorder | |
| H01077 | Bordetella hinzii infection | Bordetella hinzii is a recently added species to the genus Bordetella that is isolated from poultry with respiratory disease. B. hinzii is a potential human pathogen in immunocompromised patients or patients ... | Bacterial infectious disease | |
| H01078 |
Fletcher factor deficiency Prekallikrein deficiency (PKKD) |
Fletcher factor deficiency, also called Prekallikrein deficiency, is an autosomal recessive heterozygous disorder of coagulation that is caused by defects in KLKB1. Although the patients had no abnormal ... | Hematologic disease | |
| H01079 |
3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency PHGDH Deficiency |
3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder caused by a defect in the synthesis of the amino acid L-serine characterized clinically by congenital microcephaly ... | Inherited metabolic disorder | |
| H01080 | Ralstonia pickettii infection | Ralstonia pickettii is a gram-negative aerobic bacillus that can cause infections, mainly of the respiratory tract, in immunocompromised and cystic fibrosis patients. | Bacterial infectious disease | |
| H01081 | Achromobacter xylosoxidans keratitis | Achromobacter xylosoxidans is a gram-negative bacterium that belongs to the genus Alicaligenes. This organism can rarely cause keratitis in patients who had worn contact lenses. | Bacterial infectious disease | |
| H01082 | Phosphoserine aminotransferase deficiency | Phosphoserine aminotransferase (PSAT) deficiency is a disorder of serine biosynthesis characterized biochemically by low plasma and CSF concentrations of serine and glycine and clinically by intractable ... | Inherited metabolic disorder |
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