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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01686 |
Idiopathic portal hypertension Non-cirrhotic portal fibrosis Banti syndrome |
Idiopathic portal hypertension (IPH) is a disorder generally classified as a noncirrhotic portal hypertension of unknown etiology, and is clinically characterized by portal hypertension, splenomegaly, ... | Digestive system disease | |
| H01687 |
Extrahepatic portal vein obstruction Extrahepatic portal venous obstruction |
Extrahepatic portal vein obstruction (EHPVO) is a vascular disorder of liver characterized by obstruction and cavernomatous transformation of portal vein with or without the involvement of intrahepatic ... | Digestive system disease | |
| H01688 | Rapidly progressive glomerulonephritis | Rapidly progressive glomerulonephritis (RPGN) or crescentic glomerulonephritis is a life-threatening disease that destroys kidneys over a period of days to weeks. Proliferation of epithelial cells and ... | Urinary system disease | |
| H01689 |
Fisher syndrome Miller Fisher syndrome |
Fisher syndrome is a variant of the Guillain- Barre syndrome (GBS) and its classical clinical triad consists of ophthalmoplegia, ataxia, and areflexia. It is a relatively rare neurological disorder, accounting ... | Immune system disease; Nervous system disease | |
| H01690 | Lichen sclerosus et atrophicus | Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory dermatitis affecting primarily vulvar, perianal and perineal skin. Extragenital lichen sclerosus is most common on the neck, shoulders, and ... | Immune system disease; Skin disease | |
| H01691 | Renal angiomyolipoma | Renal angiomyolipoma (AML) is one of the most common solid benign renal tumours, composed of fat, smooth muscle, and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome ... | Neoplasm | |
| H01692 | Subependymal giant cell astrocytoma | Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative ... | Nervous system disease | |
| H01693 |
Eosinophilic fasciitis Diffuse fasciitis |
Eosinophilic fasciitis (EF) is a systemic inflammatory disease characterized by symmetrical swelling and skin induration of the arms and/or legs, evolving into a scleroderma-like appearance, accompanied ... | Musculoskeletal disease | |
| H01694 |
Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome |
Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe acute mucocutaneous diseases. The early stage of the disease is characterized by red-purple maculopapular eruptions. Then ... | Immune system disease; Skin disease | |
| H01695 | Erythema multiforme | Erythema multiforme (EM) is an immune-mediated, mucocutaneous condition characterized by "target" lesions. Classically, EM has been separated into 2 subgroups, EM minor and EM major. In EM minor, lesions ... | Immune system disease; Skin disease | |
| H01696 | Subacute sclerosing panencephalitis | Subacute sclerosing panencephalitis (SSPE) is a progressive, fatal neurologic disorder of childhood and early adolescence. It is caused by a persistent infection of the brain by an aberrant measles virus ... | Neurodegenerative disease; Viral infectious disease | |
| H01697 | Antiphospholipid syndrome | Antiphospholipid syndrome (APS) is characterized by a variety of clinical and immunological manifestations. The clinical hallmarks of this syndrome are thrombosisand poor obstetric outcomes in the presence ... | Hematologic disease | |
| H01698 |
Giant cell arteritis Temporal arteritis |
Giant cell arteritis (GCA), also known as temporal arteritis, is a chronic and polygenic immune-mediated disease of unknown etiology. It is the most common form of vasculitis in individuals over the age ... | Immune system disease | |
| H01699 | Isolated TSH deficiency | Isolated TSH deficiency is a rare autosomal recessive disease, that cause congenital hypothyroidism. Patients were found to have homozygous splice site mutation in the TSH beta subunit gene. They show ... | Endocrine and metabolic disease | |
| H01700 | Hypopituitarism | Hypopituitarism is a chronic endocrine illness, and is the partial or complete insufficiency of anterior pituitary hormone secretion. Anterior pituitary is composed of five cell types that secrete growth ... | Endocrine and metabolic disease | |
| H01701 |
Pituitary TSH hypersecretion Syndrome of inappropriate secretion of TSH (SITSH) |
Pituitary TSH hypersecretion is disease of the anterior portion of the pituitary resulting in hypersecretion of thyroid stimulating hormone (TSH). It includes two forms of central hyperthyroidism, i.e ... | Endocrine and metabolic disease | |
| H01702 | Glucocorticoid resistance syndrome | Glucocorticoid resistance (GCCR) is a rare syndrome characterized by decreased sensitivity to cortisol, increased secretion of cortisol, resistance to adrenal suppression by dexamethasone and the absence ... | Endocrine and metabolic disease | |
| H01703 | Eating Disorders | Eating disorders, which include anorexia nervosa (AN), bulimia nervosa (BN), and binge eating disorder (BED), are disorders defined by disturbances in eating behavior. Anorexia nervosa (AN) is the oldest ... | Mental and behavioural disorder | |
| H01704 | Sudden sensorineural hearing loss | Sudden sensorineural hearing loss (SSNHL) is defined as a loss of hearing of 30 dB or more over at least three contiguous frequencies. Usually, symptoms present unilaterally and suddenly within 24-72 h ... | Nervous system disease | |
| H01705 | Bilateral sudden sensorineural hearing loss | Bilateral sudden sensorineural hearing loss (SNHL) represents a rare disease entity, constituting less than 5 % of all sudden SNHL cases. Unlike unilateral disease, bilateral sudden SNHL appears to be ... | Nervous system disease | |
| H01706 | Delayed endolymphatic hydrops | Delayed endolymphatic hydrops (DEH) is a disorder, characterized by episodic vertigo that develops some time after the onset of a profound, typically unilateral sensorineural hearing loss. DEH can be differentiated ... | Nervous system disease | |
| H01707 |
Ossified ligamentum flavum Ossification of the yellow ligament |
Ossified ligamentum flavum (OLF) is a condition of heterotopic lamellar bone formation within the yellow ligament. OLF is a widely described pathology in eastern Asia and rare in other parts of the world ... | Musculoskeletal disease | |
| H01708 |
Diffuse idiopathic skeletal hyperostosis Forestier disease Ankylosing hyperostosis Ossification of the anterior longitudinal ligament |
Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier disease, is a systemic noninflammatory disease characterized by ossification of the entheses. It affects mainly elderly men, and ... | Musculoskeletal disease | |
| H01709 | Glucocorticoid-induced osteonecrosis | Glucocorticoid-induced osteonecrosis is a common and severe adverse event. Glucocorticoid use is one of the most important causes of osteonecrosis. In patients receiving long-term therapy, glucocorticoids ... | Musculoskeletal disease | |
| H01710 | Mixed connective tissue disease | Mixed connective tissue disease (MCTD) is a rare autoimmune disease characterized by a combination of clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis with elevated ... | Immune system disease | |
| H01711 | Spinal stenosis | Spinal stenosis is an abnormal narrowing of the spinal canal that mainly occurs in the cervical and lumbar regions. Cervical stenosis presents with axial neck pain, radiculopathy, myelopathy, or a combination ... | Musculoskeletal disease | |
| H01712 |
Fulminant hepatic failure Fulminant hepatitis |
Fulminant hepatic failure (FHF) is a life-threatening condition characterized by the rapid deterioration of liver functions and hepatic encephalopathy. FHF is with the basic definition of the onset of ... | Digestive system disease | |
| H01713 | Diffuse panbronchiolitis | Diffuse panbronchiolitis (DPB) is a chronic inflammatory lung disease, which predominantly affects East Asians. Clinically, DPB is characterized by chronic inflammation of the respiratory bronchioles and ... | Respiratory system disease | |
| H01714 |
Chronic obstructive pulmonary disease (COPD) Emphysema |
Chronic obstructive pulmonary disease (COPD) is a representative chronic inflammatory disorder of the lungs that includes chronic bronchitis and emphysema. COPD is characterized by airway inflammation ... | Respiratory system disease | |
| H01715 |
Obesity hypoventilation syndrome Pickwickian Syndrome |
Obesity hypoventilation syndrome (OHS) is defined as the triad of obesity (BMI of 30 or higher), daytime hypoventilation, and sleep-disordered breathing in the absence of any other cause of hypoventilation ... | Respiratory system disease | |
| H01716 | Idiopathic interstitial pneumonias | Idiopathic interstitial pneumonias (IIP) are a heterogeneous subset of interstitial lung diseases, characterized by unknown aetiology. Despite the varied nature of IIPs, the common histological feature ... | Respiratory system disease | |
| H01717 | Optic neuritis | Optic neuritis is a demyelinating inflammatory disease of the optic nerve that presents with an abrupt loss of vision. The majority of patients are between the ages of 20 and 50 years, with a mean age ... | Nervous system disease | |
| H01718 |
Kawasaki disease Mucocutaneous lymph node syndrome |
Kawasaki disease (KD) is an acute systemic vasculitis of childhood that does not have a known cause or aetiology. KD is a self-limited illness that is not associated with the production of autoantibodies ... | Immune system disease | |
| H01719 | Optic neuropathy | Optic neuropathy is damage to the optic nerve that causes vision loss frequently. The optic nerve is susceptible to a number of pathologic processes. Causes of the disease include demyelinating, inflammatory ... | Nervous system disease | |
| H01720 | Southeast Asian ovalocytosis | Southeast Asian ovalocytosis (SAO) is a very common condition in the aboriginal peoples from Papua New Guinea, Indonesia, Malaysia, the Philippines, and southern Thailand, in areas where malaria is endemic ... | Hematologic disease | |
| H01721 |
Anti-glomerular basement membrane (GBM) disease Goodpasture syndrome |
Goodpasture syndrome (GS), or anti-glomerular basement membrane (anti-GBM) disease, is a rare and organ-specific autoimmune disease defined by anti-GBM antibody-mediated damage (mainly immunoglobulin G-1) ... | Immune system disease | |
| H01722 | Galloway-Mowat syndrome | Galloway-Mowat Syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement. Several case reports and studies ... | Congenital malformation | |
| H01723 | Deep vein thrombosis | Deep vein thrombosis (DVT) is the formation of blood clots (thrombi) in the deep veins. It can lead to complications such as postphlebitic syndrome, pulmonary embolism and death. DVT has genetic and acquired ... | Hematologic disease | |
| H01724 |
HTLV1-associated myelopathy Tropical spastic paraparesis |
Human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic progressive myelopathy characterized by bilateral pyramidal tract involvement with sphincteric ... | Immune system disease; Nervous system disease | |
| H01725 | Primary immunodeficiency disease | Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many ... | Immune system disease | hsa05340 Primary immunodeficiency |
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