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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01565 | Wernicke encephalopathy | Wernicke encephalopathy is a rare but serious neurological pathology due to a vitamin B1 deficiency. It is commonly associated with heavy alcohol consumption. Other clinical associations are with hyperemesis ... | Endocrine and metabolic disease | |
| H01566 | Beriberi | Beriberi is the classical syndrome caused by thiamine (vitamin B1) deficiency. Beriberi has two major clinical manifestations, dry beriberi characterized by neurologic manifestations that include peripheral ... | Endocrine and metabolic disease | |
| H01567 |
Thiamine pyrophosphokinase deficiency Thiamine metabolism dysfunction syndrome 5 |
Thiamine pyrophosphokinase (TPK) deficiency is a recently described rare disorder that has episodic encephalopathy or Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of ... | Inherited metabolic disorder | |
| H01568 |
3C syndrome Ritscher-Schinzel syndrome Craniocerebellocardiac dysplasia |
The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a rare, presumably autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ... | Congenital malformation | |
| H01569 | CHOPS syndrome | CHOPS syndrome is a congenital disorder involving multiple abnormalities. The symptoms include cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal ... | Congenital malformation | |
| H01570 | Autosomal dominant striatal degeneration | Autosomal-dominant striatal degeneration (ADSD) is a rare autosomal-dominant movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical ... | Nervous system disease | |
| H01571 | Singleton-Merten syndrome | Singleton-Merten syndrome (SMS) is a rare autosomal-dominant multisystem disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root ... | Congenital malformation | |
| H01572 | Cole-Carpenter syndrome | Cole-Carpenter syndrome (CCS) is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. CCS was ... | Congenital malformation | |
| H01573 | Zimmermann-Laband syndrome | Zimmermann-Laband syndrome (ZLS) is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic ... | Congenital malformation | |
| H01574 |
Familial idiopathic basal ganglia calcification Bilateral striopallidodentate calcinosis (BSPDC) Fahr disease |
Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known ... | Nervous system disease | |
| H01575 |
Roifman syndrome Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency |
Roifman syndrome is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy ... | Congenital malformation | |
| H01576 |
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) Spondyloenchondrodysplasia (SPENCD) |
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an autosomal recessive skeletal dysplasia, characterised by radiolucent metaphyseal and vertebral lesions. Patients may exhibit varying ... | Congenital malformation | |
| H01577 | Essential tremor | Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or ... | Nervous system disease | |
| H01578 | Subacute myelo-optico-neuropathy (SMON) | Subacute myelo-optico-neuropathy (SMON) is a severe neurodegenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. SMON is characterized by subacute onset ... | Neurodegenerative disease | |
| H01579 |
Congenital symmetric circumferential skin creases Kunze-Riehm syndrome Michelin tire baby syndrome |
Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described ... | Congenital malformation | |
| H01580 |
Vitamin C deficiency Scurvy |
Scurvy occurs because of reduced intake or absorption of vitamin C, which is characterized by bleeding gums, impaired wound healing, petechiae, perifollicular hemorrhage, anemia, arthralgia and joint effusions ... | Inherited metabolic disorder | |
| H01581 |
IgA nephropathy Berger disease |
Primary IgA nephropathy is an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits accompanied by a variety of histopathologic lesions. It ... | Immune system disease; Urinary system disease | |
| H01582 | Pellagra | Pellagra is a remarkable chronic wasting disorder, the late stage of a severe cellular deficiency of niacin (vitamin B3). The classical triad of pellagra is dermatitis, diarrhea and dementia. Early symptoms ... | Endocrine and metabolic disease | |
| H01583 |
Hydroxykynureninuria Xanthurenic aciduria Kynureninase deficiency |
Hydroxykynureninuria, also known as xanthurenic aciduria is autosomal recessive disorder of tryptophan metabolism. It is characterized by excessive output of xanthutrenic acid, 3-hydroxykynurenine, and ... | Inherited metabolic disorder | |
| H01584 |
IgA vasculitis Henoch-Schonlein purpura |
IgA vasculitis (IgAV), also known as Henoch-Schonlein purpura (HSP), is the most common systemic small vessel vasculitis in childhood with clinical characteristics of non-thrombocytopenic palpable purpura ... | Immune system disease | |
| H01585 | Autoimmune hemolytic anemia | Autoimmune hemolytic anemia (AIHA) is a relatively uncommon disorder caused by the increased destruction of red blood cells (RBCs) by anti-RBC autoantibodies with or without complement activation. AIHAs ... | Hematologic disease | |
| H01586 | Acquired pure red cell aplasia | Pure red cell aplasia (PRCA) is a rare condition characterised by selective inhibition and the absence of red cell precursors in the bone marrow with consequent anaemia and reticulocytopenia in the presence ... | Hematologic disease | |
| H01587 | Disseminated intravascular coagulation | Disseminated intravascular coagulation (DIC) is an acquired syndrome characterised by the intravascular activation of coagulation with loss of localisation arising from different causes. It can originate ... | Hematologic disease | |
| H01588 | Cluster headache | Cluster headache (CH) is the commonest of the trigeminal autonomic cephalalgias (TAC) characterized by attacks of severe, strictly unilateral pain, which is orbital, supraorbital, temporal, or in any combination ... | Nervous system disease | |
| H01589 | Systemic primary carnitine deficiency | Systemic primary carnitine deficiency is a rare autosomal recessive disorder characterized by cardiomyopathy, muscle weakness, hypoglycemic hypoketotic coma, and hyperammonemia. Carnitine plays essential ... | Inherited metabolic disorder | |
| H01590 | Chronic eosinophilic leukemia | Chronic eosinophilic leukemia (CEL) is a chronic myeloproliferative disease of unknown etiology in which a clonal proliferation of eosinophilic precursors results in a persistently elevated number of eosinophils ... | Cancer | |
| H01591 | Gastrotintestinal stromal tumor | Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract, arising from the interstitial cells of Cajal, or their precursor stem cells. GISTs account for about 80% ... | Cancer | |
| H01592 | Medullary thyroid cancer | Medullary thyroid carcinoma (MTC) is a malignant tumor originating from thyroid parafollicular C cells and accounts for only <5% of thyroid cancers, but it causes a disproportionate number of thyroid cancer ... | Cancer | |
| H01593 | Osteoporosis | Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values ... | Musculoskeletal disease | |
| H01594 | Myasthenia gravis | Myasthenia gravis (MG) is an autoimmune disorder characterized by a defective transmission of nerve impulses to muscles leading to muscle weakness and fatigability. Some, but not all, muscles are affected ... | Immune system disease; Nervous system disease | |
| H01595 | Cutaneous lupus erythematosus | Cutaneous lupus erythematosus (CLE) is the skin-related form of lupus erythematosus (LE), with a broad spectrum of clinical manifestations and a variable course. CLE is a frequent finding in patients with ... | Immune system disease; Skin disease | |
| H01596 | Lambert-Eaton myasthenic syndrome | The Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of neuromuscular transmission in which autoantibodies against the P/Q-type voltage-gated calcium channel (VGCC) at the presynaptic ... | Immune system disease; Nervous system disease | |
| H01597 |
Restless legs syndrome Willis Ekbom disease |
The restless legs syndrome (RLS), also known as Willis Ekbom disease is a neurologic disorder characterized by unpleasant sensations in the legs accompanied by an urge to move them (akathisia). These symptoms ... | Nervous system disease | |
| H01598 |
Addison disease Primary adrenal insufficiency Hypoadrenocorticism |
Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adrenal cortex, resulting in insufficient ... | Endocrine and metabolic disease | |
| H01599 | Hypereosinophilic syndrome | Hypereosinophilic syndrome (HES) is a heterogeneous group of rare disorders characterized by marked blood or tissue eosinophilia resulting in a wide variety of clinical manifestations. A number of HES ... | Cancer | |
| H01600 | Parkinsonian syndrome | Parkinsonian syndromes (PS) are multisystemic diseases that produce not only motor and cognitive function impairment, but also other disorders that require the intervention of specialists other than the ... | Neurodegenerative disease | |
| H01601 | Anaplastic large-cell lymphoma | Anaplastic large cell lymphoma (ALCL) is a lymphoid neoplasm characterized by a proliferation of large lymphoid cells, referred to as hallmark cells, with strong expression of CD30. The World Health Organization ... | Cancer | |
| H01602 | Gastroesophageal reflux disease | Gastroesophageal reflux disease (GERD) is a condition in which reflux of the stomach contents into the oesophagus results in symptoms or, occasionally, complications. GERD can be classified as non-erosive ... | Digestive system disease | |
| H01603 | Primary aldosteronism | Primary aldosteronism is a clinical syndrome characterized by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought ... | Endocrine and metabolic disease | |
| H01604 | Polymyositis and dermatomyositis | Polymyositis (PM) and dermatomyositis (DM) are the two major forms of inflammatory muscle diseases. PM and DM, along with sporadic inclusion-body myositis (sIBM), belong to the heterogeneous group of the ... | Musculoskeletal disease |
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