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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01525 |
22q11.2 deletion syndrome CATCH22 |
The 22q11.2 deletion syndrome is the most common microdeletion disorder with an estimated prevalence of 1 in 3000-6000 live births. Most of the patients show the common 3 Mb deletion, but proximal 1.5 ... | Chromosomal abnormality | |
| H01526 | Legg-Calve-Perthes Disease | Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually ... | Musculoskeletal disease | |
| H01527 | Chronic inflammatory demyelinating polyradiculoneuropathy | Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a polyneuropathy that is often disabling, with more than 50% of patients reported as having temporary disability, and about 10% eventually ... | Immune system disease; Nervous system disease | |
| H01528 | Neuroleptic malignant syndrome | Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening side effect to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction ... | Nervous system disease | |
| H01529 |
Avascular necrosis of femoral head Osteonecrosis of the femoral head |
Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death ... | Musculoskeletal disease | |
| H01530 |
Pinta Mal del pinto Carate |
Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Pinta, also ... | Bacterial infectious disease | |
| H01531 |
Bejel Endemic syphilis |
Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and bejel. Bejel, also known as ... | Bacterial infectious disease | |
| H01532 | Gout | Gout is a kind of arthritis associated with hyperuricemia. It is triggered due to precipitation and deposition of inflammatory monosodium urate crystals in synovial and other tissues, accompanied by severe ... | Musculoskeletal disease | |
| H01533 | Japanese encephalitis | Japanese encephalitis is an infection of the central nervous system caused by Japanese encephalitis virus (JEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes ... | Viral infectious disease | |
| H01534 | Western equine encephalitis | Western equine encephalitis is an infection of the central nervous system caused by Western equine encephalitis virus (WEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted ... | Viral infectious disease | |
| H01535 | Eastern equine encephalitis | Eastern equine encephalitis is an infection of the central nervous system caused by Eastern equine encephalitis virus (EEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted ... | Viral infectious disease | |
| H01536 |
Murray Valley encephalitis Australian encephalitis |
Murray Valley encephalitis, previously known as Australian encephalitis, is an infection of the central nervous system caused by Murray Valley encephalitis virus (MVEV), a flavivirus in the Flaviviridae ... | Viral infectious disease | |
| H01537 |
La Crosse encephalitis California encephalitis |
La Crosse encephalitis is an infection of the central nervous system caused by La Crosse virus (LACV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes mosquitoes. LACV ... | Viral infectious disease | |
| H01538 | Hendra virus infection | Hendra virus (HeV) is an enveloped, single-stranded negative sense RNA virus that is a prototype member of the genus Henipavirus in the family Paramyxoviridae. HeV is a zoonotic virus that emerged in 1994 ... | Viral infectious disease | |
| H01539 | Nipah virus infection | Nipah virus (NiV) is an enveloped, single-stranded negative sense RNA virus that is a prototype member of the genus Henipavirus in the family Paramyxoviridae. NiV is a zoonotic virus that emerged in Malaysia ... | Viral infectious disease | |
| H01540 | Chikungunya fever | Chikungunya fever is an infectious disease caused by Chikungunya virus (CHIKV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. CHIKV was first recognized ... | Viral infectious disease | |
| H01541 | Argentine hemorrhagic fever | Argentine hemorrhagic fever is an infectious disease caused by Junin virus (JUNV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. JUNV was first isolated ... | Viral infectious disease | |
| H01542 | Bolivian hemorrhagic fever | Bolivian hemorrhagic fever is an infectious disease caused by Machupo virus (MACV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. MACV was first isolated ... | Viral infectious disease | |
| H01543 | Venezuelan hemorrhagic fever | Venezuelan hemorrhagic fever is an infectious disease caused by Guanarito virus (GTOV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. GTOV was first isolated ... | Viral infectious disease | |
| H01544 | Brazilian hemorrhagic fever | Brazilian hemorrhagic fever is an infectious disease caused by Sabia virus (SABV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. SABV was first isolated ... | Viral infectious disease | |
| H01545 | O'nyong-nyong fever | O'nyong-nyong fever is an infectious disease caused by O'nyong-nyong virus (ONNV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Anopheles mosquitoes. ONNV was first isolated ... | Viral infectious disease | |
| H01546 | Mayaro fever | Mayaro fever is an infectious disease caused by Mayaro virus (MAYV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Haemagogus mosquitoes. MAYV was first isolated in 1954 ... | Viral infectious disease | |
| H01547 | Venezuelan equine encephalitis | Venezuelan equine encephalitis is an infection of the central nervous system caused by Venezuelan equine encephalitis virus (VEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted ... | Viral infectious disease | |
| H01548 |
West Nile fever West Nile virus infection |
West Nile fever is an infectious disease caused by West Nile virus (WNV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. WNV was first isolated in 1937 ... | Viral infectious disease | |
| H01549 | Rift Valley fever | Rift Valley fever is an infectious disease caused by Rift Valley fever virus (RVFV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RVFV was first ... | Viral infectious disease | |
| H01550 | Bunyamwera fever | Bunyamwera fever is an infectious disease caused by Bunyamwera virus (BUNV), an orthobunyavirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes and Anopheles mosquitoes. BUNV was ... | Viral infectious disease | |
| H01551 |
Interstitial cystitis Bladder pain syndrome |
Interstitial cystitis (IC), also referred to as bladder pain syndrome (BPS), is a chronic non-infectious inflammatory condition characterized by recurring discomfort, pain or pressure in the bladder and ... | Urinary system disease | |
| H01552 |
Down syndrome Trisomy 21 |
Down syndrome (DS), a genetic condition characterized by mental retardation and distinctive facial appearance, is caused by trisomy of chromosome 21 (HSA21). Down syndrome (DS) is the most common chromosomal ... | Chromosomal abnormality | |
| H01553 |
Zika fever Zika virus disease |
Zika fever is an infectious disease caused by Zika virus (ZIKV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. ZIKV was first isolated in 1947 in the Zika ... | Viral infectious disease | |
| H01554 | Fallopian tube cancer | Fallopian tube cancer is a rare, aggressive gynecologic malignancy. Recent genetic and immunohistochemical studies strongly suggest that high-grade serous adenocarcinoma (SAC) involving the ovary likely ... | Cancer | |
| H01555 | Merkel cell carcinoma | Merkel cell carcinoma (MCC) is a cutaneous neuroendocrine malignancy that exhibits clinically aggressive features and is associated with a poor prognosis. Ultraviolet (UV) radiation may be a cause, and ... | Cancer | |
| H01556 | Meningioma | Meningiomas are the second-most common central nervous system tumor in adults. These tumors arise from arachnoid cells of the meninges, the covering layer of the brain. The majority of meningiomas tend ... | Cancer | |
| H01557 | Hepatic angiosarcoma | Angiosarcoma represents 1 to 2% of soft tissue tumors. It originates from endothelial cells of small blood vessels and may affect a variety of organs, including the retroperitoneum, skeletal muscle, subcutis ... | Cancer | |
| H01558 | Parathyroid carcinoma | Parathyroid carcinoma (PC) is a highly aggressive endocrine tumor, with an annual incidence of less than 1 per million. Over 90% of patients present with excess parathyroid hormone (PTH), representing ... | Cancer | |
| H01559 | Oropharyngeal cancer | Oropharyngeal cancer is a generic term that includes tumors arising within the anatomic confines of the posterior pharyngeal wall, soft palate, tonsillar region and posterior one-third (base) of the tongue ... | Cancer | |
| H01560 | Alkhumra hemorrhagic fever | Alkhumra hemorrhagic fever is a severe, often fatal, infectious disease caused by Alkhumra hemorrhagic fever virus (AHFV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by ... | Viral infectious disease | |
| H01561 |
Chiari malformation Arnold-Chiari syndrome |
Chiari malformations, also known as Arnold-Chiari syndrome, is a group of syndromes consisting of different kinds of pathologic conditions of the posterior fossa development. They are congenital in most ... | Congenital malformation | |
| H01562 |
Patau syndrome Trisomy 13 |
Patau syndrome, also known as trisomy 13, is a chromosomal disorder characterized by the severe clinical picture of multiple congenital anomalies. It is one of the least common autosomal trisomies among ... | Chromosomal abnormality | |
| H01563 | HIV infection | The human immunodeficiency virus (HIV) is a lentivirus (a subgroup of retrovirus) that causes HIV infection and over time acquired immunodeficiency syndrome (AIDS). Two types of HIV has been characterized ... | Viral infectious disease | hsa05170 Human immunodeficiency virus 1 infection |
| H01564 |
Edwards syndrome Trisomy 18 |
Edwards syndrome, also known as trisomy 18, is a chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. This disease is the second-most ... | Chromosomal abnormality |
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