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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01083 | Bordetella bronchiseptica infection | Bordetella bronchiseptica is a common pathogen among dogs and pigs, but has rarely been implicated in human infections. Human infections caused by B. bronchiseptica occur mostly in immunocompromised patients ... | Bacterial infectious disease | |
| H01084 | Bordetella holmesii infection | Bordetella holmesii is a fastidious asaccharolytic oxidase-negative gram-negative bacterium closely related to B. pertussis. It has been reported as a rare cause of bacteremia, pertussis-like respiratory ... | Bacterial infectious disease | |
| H01085 | Diphyllobothriasis | Diphyllobothriasis is a parasitosis caused by the tapeworms of the genus Diphyllobothrium. It has been known as intestinal parasites of humans for a long time and has shown a reemergence in some countries ... | Parasitic infectious disease | |
| H01086 | Lymphatic filariasis | Lymphatic filariasis is a mosquito-borne parasitic nematode infection in tropical and subtropical areas of Asia, Africa, the Western Pacific, and some parts of the Americas. Disease pathogenesis is linked ... | Parasitic infectious disease | |
| H01087 |
Balantidiasis Balantidial dysentery |
Balantidiasis is a zoonotic disease caused by protozoan Balantidium coli, which is acquired by humans via the fecal-oral route from the natural reservoir, pigs. Humans may remain asymptomatic or may develop ... | Parasitic infectious disease | |
| H01088 | Pigmented paravenous chorioretinal atrophy | Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare retinal disorder characterized by the presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation ... | Nervous system disease | |
| H01089 | Dientamoebiasis | Dientamoeba fragilis is a trichomonad protozoan that belongs to the Parabasalia group. It is found worldwide in the gastrointestinal tract of humans and implicated as a cause of diarrhea. | Parasitic infectious disease | |
| H01090 | Ascariasis | Ascariasis is a commonly documented parasitic infection in sub-Saharan Africa, the Americas, China, and east Asia. Morbidity and mortality increase with worm burden and those who harbor light infections ... | Parasitic infectious disease | |
| H01091 |
Enterobiasis Oxyuriasis |
Enterobiasis is one of the most widespread parasitic nematode infections caused by Enterobius vermicularis that commonly referred to as pinworm. This infection is usually associated with pruritis in the ... | Parasitic infectious disease | |
| H01092 | Hookworm disease | Human hookworm disease is a chronic intestinal nematode infection most commonly caused by Ancylostoma duodenale and Necator americanus, which are transmitted via skin contact with fecally contaminated ... | Parasitic infectious disease | |
| H01093 |
Paragonimiasis Pulmonary distomatosis Lung fluke disease Benign endemic hemoptysis |
Paragonimiasis (also known as lung fluke infection) is a food-borne parasitic disease caused by infection with trematodes belonging to the genus Paragonimus. Human infections occur by consuming freshwater ... | Parasitic infectious disease | |
| H01094 | Eosinophil peroxidase deficiency | Eosinophil peroxidase deficiency is a rare autosomal recessive abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix ... | Immune system disease | |
| H01095 | Syndactyly | Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized ... | Congenital malformation | |
| H01096 | Pyruvate kinase deficiency | Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes) ... | Inherited metabolic disorder | |
| H01097 | Spastic quadriplegic cerebral palsy | Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural ... | Nervous system disease | |
| H01098 | Pentastomiasis | Pentastomiasis is an unusual parasitic zoonosis caused by the larval stages of pentastomes (tongue worms), generally limited to the tropics and subtropical areas. Its definitive hosts are reptiles whilst ... | Parasitic infectious disease | |
| H01099 |
Trichinosis Trichinellosis |
Trichinellosis or trichinosis is a foodborne disease caused by the parasitic nematode Trichinella and is widely distributed in the temperate, tropical, and arctic regions. Humans become infected after ... | Parasitic infectious disease | |
| H01100 | Strongyloidiasis | Strongyloidiasis is an intestinal parasite infection caused by soil-transmitted helminths of the genus Strongyloides. The disease occurs worldwide, but especially in tropical and subtropical regions. Most ... | Parasitic infectious disease | |
| H01101 | Combined lipase deficiency | Combined lipase deficiency (CLD) is characterized by very severe hypertriglyceridemia, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. CLD is caused by mutations in ... | Inherited metabolic disorder | |
| H01102 | Pituitary adenomas | Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial ... | Neoplasm | |
| H01103 | Alpha-1-antitrypsin deficiency | Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by low plasma levels of A1AT. The condition is associated with emphysematous lung disease and also with liver disease. A1AT is ... | Inherited metabolic disorder | |
| H01104 | Loiasis | Loiasis is an infection with Loa loa, a filarial parasite found in central Africa transmitted by Chrysops fly bites. Loiasis is often asymptomatic. | Parasitic infectious disease | |
| H01105 |
Cranio-lenticulo-sutural dysplasia Boyadjiev-Jabs syndrome |
Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by ... | Congenital malformation | |
| H01106 | Plasminogen activator inhibitor type 1 deficiency | Plasminogen activator inhibitor type 1 (PAI-1) deficiency is a disorder resulting in increased fibrinolysis and an associated bleeding diathesis. PAI-1 is an important component of the coagulation system ... | Hematologic disease | |
| H01108 |
CD36 deficiency Platelet glycoprotein IV deficiency Bleeding disorder platelet-type 10 (BDPLT10) |
Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases ... | Hematologic disease; Inherited metabolic disorder | |
| H01109 |
Chronic mucocutaneous candidiasis Familial candidiasis (CANDF) |
Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic ... | Immune system disease | |
| H01110 | Pneumothorax | Pneumothorax is defined as air or gas accumulated in the pleural space and can be classified as spontaneous or traumatic. Traumatic pneumothorax includes iatrogenic cases caused during procedures such ... | Respiratory system disease | |
| H01111 | Cortisone reductase deficiency | Cortisone reductase deficiency (CORTRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between cortisone reductase deficiency (CRD) and polycystic ovary syndrome ... | Endocrine and metabolic disease | |
| H01112 |
Polyhydramnios, megalencephaly, and symptomatic epilepsy PMSE syndrome |
Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 ... | Congenital malformation | |
| H01113 | Acid phosphatase deficiency | Acid phosphatase deficiency is caused by defects in ACP2, that encodes the beta subunit of lysosomal acid phosphatase. The clinical features are intermittent vomiting, hypotonia, lethargy, opisthotonos ... | Inherited metabolic disorder, Lysosomal disease | |
| H01114 | Ocular coloboma | Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal ... | Congenital malformation | |
| H01115 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, autosomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis ... | Neurodegenerative disease | |
| H01116 |
Choroideremia Tapetochoroidal dystrophy |
Choroideremia (CHM) is an X-linked retinal dystrophy characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the ... | Nervous system disease | |
| H01117 | Chronic recurrent multifocal osteomyelitis | Chronic recurrent multifocal osteomyelitis (CRMO), also known as Majeed syndrome, is a rare, autosomal recessive autoinflammatory disorder consisting of chronic recurrent multifocal osteomyelitis, congenital ... | Immune system disease | |
| H01118 |
Progressive external ophthalmoplegia Autosomal dominant progressive external ophthalmoplegia |
Progressive external ophthalmoplegia (PEO) is a progressive weakness of the external muscles of the eye resulting in blepharoptosis and ophthalmoparesis. Often other muscles are involved resulting in dysphagia ... | Nervous system disease | |
| H01119 | Prolidase deficiency | Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen ... | Inherited metabolic disorder | |
| H01120 |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Cerebral proliferative glomeruloid vasculopathy (PGV) Fowler syndrome |
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder of brain angiogenesis, resulting ... | Nervous system disease | |
| H01121 | Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency | Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism. SCOT/OXCT1 is a key mitochondrial enzyme in the metabolism of ketone bodies in various organs. Deficiency ... | Inherited metabolic disorder | |
| H01122 |
Congenital pulmonary alveolar proteinosis Pulmonary surfactant metabolism dysfunction |
Congenital pulmonary alveolar proteinosis is also known as pulmonary surfactant metabolism dysfunction (SMDP). It is caused by one of the three different genes associated with surfactant metabolism in ... | Respiratory system disease | |
| H01123 | HMG-CoA synthase deficiency | HMG-CoA synthase (HMGCS) deficiency is an autosomal recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial ... | Inherited metabolic disorder, Mitochondrial disease |
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