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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01325 | Actinomycosis | Actinomycosis is an uncommon chronic granulomatous infection caused by several members of the order Actinomycetales, most notably, Actinomyces israelii. Additional species that are established but less ... | Bacterial infectious disease | |
| H01326 | Hand, foot and mouth disease | Hand, foot and mouth disease (HFMD) is a common infection among infants and young children caused by certain enteroviruses in the Picornaviridae family of +ssRNA viruses, such as Coxsackievirus A16 and ... | Viral infectious disease | |
| H01327 | Herpangina | Herpangina is a mouth infection caused by coxsackieviruses in the genus Enterovirus, the family Picornaviridae of +ssRNA viruses, affecting mostly children in summer. | Viral infectious disease | |
| H01328 | Aspergillosis | Pulmonary aspergillus infections can be classified based on clinical syndromes into saprophytic infections, allergic disease and invasive disease. Invasive pulmonary aspergillosis, occurring in immunocompromised ... | Fungal infectious disease | |
| H01329 | Paracoccidioidomycosis | Paracoccidioidomycosis is a systemic endemic mycosis caused by Paracoccidioides brasiliensis and Paracoccidioides lutzii, exhibiting geographically restricted distribution from southern Mexico to northern ... | Fungal infectious disease | |
| H01330 | Brazilian purpuric fever | Brazilian purpuric fever (BPF) is a pediatric disease caused by Haemophilus influenzae biogroup aegyptius (H. aegyptius) and is often fatal. This disease is characterized by purulent conjunctivitis and ... | Bacterial infectious disease | |
| H01331 |
Dental caries Dental decay |
Dental caries occurs due to demineralization of enamel and dentine (the hard tissues of the teeth) by organic acids formed by bacteria in dental plaque through the anaerobic metabolism of sugars derived ... | Bacterial infectious disease | |
| H01332 | Helicobacter heilmannii infection | Helicobacter heilmannii (H. heilmannii) infection is a relatively rare causative agent of gastroduodenal diseases in children. H. heilmannii frequently colonizes gastric mucosa of animals, mainly cats ... | Bacterial infectious disease | |
| H01333 | Non-alcoholic fatty liver disease | It has been reported that those patients with non-alcoholic fatty liver disease (NAFLD) are probably more common in those individuals with metabolic syndrome, which includes obesity and type 2 diabetes ... | Digestive system disease | hsa04932 Non-alcoholic fatty liver disease |
| H01334 |
Tinea versicolor Pityriasis versicolor |
Tinea versicolor, also known as pityriasis versicolor, dermatomycosis furfuracea and tinea flava, is caused by Malassezia species which are naturally found on the skin surfaces of many animals, including ... | Fungal infectious disease | |
| H01335 | Photorhabdus asymbiotica infection | Photorhabdus are Gram-negative nematode-symbiotic and insect-pathogenic bacteria. The species Photorhabdus asymbiotica can infect humans as well as insects. P. asymbiotica causes both locally invasive ... | Bacterial infectious disease | |
| H01336 | Encephalitozoon infection | The genus Encephalitozoon are spore-forming obligate intracellular microsporidian parasites that infect a wide range of organisms, including protists, invertebrates, humans, and many other vertebrates ... | Fungal infectious disease | |
| H01337 | Laribacter hongkongensis infection | Laribacter hongkongensis is a facultatively anaerobic, nonsporulating, gram-negative, spiral rod-shaped bacterium belongs to the Neisseriaceae family of the beta-subclass of Proteobacteria. L. hongkongensis ... | Bacterial infectious disease | |
| H01338 | Myosclerosis | Myosclerosis is an autosomal recessive disorder caused by nonsense mutation of COL6A2. This disease is one of the collagen VI myopathies, characterized by difficulty in walking in early childhood, toe ... | Nervous system disease; Musculoskeletal disease | |
| H01339 | Asymptomatic bacteriuria | The term asymptomatic bacteriuria is generally used to distinguish colonization from infection and to emphasize that the presence of bacteria at mucosal surfaces does not always cause symptoms and tissue ... | Bacterial infectious disease | |
| H01340 | Bethlem myopathy | Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has ... | Nervous system disease; Musculoskeletal disease | |
| H01341 | Collagen VI myopathy | Collagen VI-related myopathy include severe Ullrich congenital muscular dystrophy (UCMD) and milder Bethlem myopathy. Mutations in each of the three collagen VI genes COL6A1, COL6A2, and COL6A3 cause these ... | Nervous system disease; Musculoskeletal disease | |
| H01342 | Zellweger syndrome | Zellweger syndrome (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia ... | Inherited metabolic disorder | |
| H01343 | Pantoea ananatis infection | Pantoea ananatis, a gram-negative, motile rod belonging to the family Enterobacteriaceae, is known as an emerging phytopathogen infecting a wide range of important crop and forest plants, and has been ... | Bacterial infectious disease | |
| H01344 | Nijmegen breakage syndrome | Nijmegen Breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, growth retardation, immunodeficiency, radiosensitivity, and cancer predisposition. Due to a founder ... | Immune system disease | |
| H01345 | Providencia stuartii infection | Providencia is a gram-negative urea-metabolizing bacillus that readily incorporates DNA from other bacteria, enabling it to acquire resistance to a broad spectrum of antibiotics. Providencia stuartii is ... | Bacterial infectious disease | |
| H01346 |
Bloom syndrome MGRISCE1 |
Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by severe growth deficiency, an erythematous and photosensitive ... | Congenital malformation | |
| H01347 |
MELAS syndrome Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes |
MELAS syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01348 | Mitochondrial phosphate carrier deficiency | Mitochondrial phosphate carrier deficiency (MPCD) is a novel disorder of oxidative phosphorylation caused by mutation in the SLC25A3 gene. The mitochondrial phosphate carrier SLC25A3 transports inorganic ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01349 |
Methacrylic aciduria 3-Hydroxy-isobutyryl-CoA hydrolase deficiency |
Methacrylic aciduria is a very rare cerebral organic aciduria caused by 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) mutations. HIBCH is a mitochondrial enzyme of valine catabolism. Patients demonstrated ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01350 | Morganella morganii infection | The genera Morganella are gram-negative anaerobic rods and important opportunistic pathogens, which cause a wide variety of nosocomial infections following surgery. Morganella morganii can cause bacteremia ... | Bacterial infectious disease | |
| H01351 | Spastic ataxia | Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... | Neurodegenerative disease | |
| H01352 | Mitochondrial trifunctional protein deficiency | Mitochondrial trifunctional protein (TFP) deficiency is a rare autosomal recessive disorder that is caused by mutations in HADHA and HADHB. TFP is a multienzyme complex of the fatty acid beta-oxidation ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01353 | Chromobacterium violaceum infection | Chromobacterium violaceum is a gram-negative, facultative anaerobic, opportunistic pathogenic bacterium that infects both humans and animals. The major symptoms in most of the cases with fatal results ... | Bacterial infectious disease | |
| H01354 | Leigh syndrome | Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01355 | Kearns-Sayre syndrome | Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of ... | Inherited metabolic disorder | |
| H01356 |
Myoclonic Epilepsy and Ragged-Red Fiber Disease MERRF syndrome Fukuhara syndrome |
Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) is a mitochondrial encephalomyopathy characterized by myoclonic seizures, cerebellar ataxia, myopathy, and ragged-red fibers (RRFs) on muscle biopsy ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01357 | Allergic contact dermatitis | Allergic contact dermatitis (ACD) is a T-cell mediated skin inflammation caused by repeated skin exposure to contact allergens. Although regarded as a dermatosis that is typically triggered by environmental ... | Immune system disease | |
| H01358 | Atopic dermatitis | Atopic dermatitis (ATOD) is a relapsing chronic inflammatory skin disease characterized by eczematous skin lesions and intense pruritus. A genetic defect in the filaggrin (FLG) protein and/or environmental ... | Immune system disease; Skin disease | |
| H01359 | Anaphylaxis | Anaphylaxis is a severe, life-threatening, systemic allergic reaction that is almost always unanticipated and may lead to death by airway obstruction or vascular collapse. Anaphylaxis can be triggered ... | Immune system disease | |
| H01360 | Allergic rhinitis | Allergic rhinitis (AR) is an inflammation of nasal mucosa mediated by IgE-associated processes, which is characterised by pruritus, sneezing, rhinorrhoea, and nasal congestion. The development of AR entails ... | Immune system disease | |
| H01361 | Eosinophilic esophagitis | Eosinophilic esophagitis (EoE) is a chronic immune and antigen-mediated clinicopathologic disease that is characterized by eosinophil infiltration into the esophageal epithelium and results in esophageal ... | Immune system disease | |
| H01362 | Dermatitis herpetiformis | Dermatitis herpetiformis (DH) is a chronic, polymorphic, pruritic skin disease that develops mostly in patients with latent gluten-sensitive enteropathy. There is an association with the genotypes HLA ... | Immune system disease; Skin disease | |
| H01363 |
NARP syndrome Neuropathy ataxia and retinis pigmentosa |
Neuropathy ataxia and retinis pigmentosa (NARP syndrome) is a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. Point mutations of the mitochondrial DNA ATPase ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01364 |
3-Hydroxyacyl-CoA dehydrogenase deficiency HADH deficiency SCHAD deficiency |
3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid ... | Inherited metabolic disorder, Mitochondrial disease |
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