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do-bridge-has_phenotype-MP.obo
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[Term]
id: DOID:0050025 ! human granulocytic anaplasmosis
relationship: has_phenotype MP:0002899 ! fatigue
! An ehrlichiosis that results_in infection located_in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted_by lone start tick (Amblyomma americanum ). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
[Term]
id: DOID:0050026 ! human monocytic ehrlichiosis
relationship: has_phenotype MP:0002899 ! fatigue
! An ehrlichiosis that results_in infection located_in monocyte or located_in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted_by black-legged tick (Ixodes scapularis), transmitted_by western black-legged tick (Ixodes pacificus) or transmitted_by castor bean tick (Ixodes ricinus,). The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue, has_symptom fever and has_symptom rash.
[Term]
id: DOID:0050041 ! Astrakhan spotted fever
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is trasnmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.
[Term]
id: DOID:0050042 ! Indian tick typhus
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
[Term]
id: DOID:0050043 ! Israeli tick typhus
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities.
[Term]
id: DOID:0050046 ! Far Eastern spotted fever
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy.
[Term]
id: DOID:0050047 ! Flinders Island spotted fever
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy.
[Term]
id: DOID:0050050 ! Japanese spotted fever
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities.
[Term]
id: DOID:0050068 ! pestis minor
relationship: has_phenotype MP:0003865 ! lymph node inflammation
! A bubonic plague that results_in a benign form of bubonic plague, has_symptom fever, has_symptom lymphadenitis, has_symptom headache and has_symptom prostration.
[Term]
id: DOID:0050073 ! invasive aspergillosis
relationship: has_phenotype MP:0001914 ! hemorrhage
! An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
[Term]
id: DOID:0050073 ! invasive aspergillosis
relationship: has_phenotype MP:0001861 ! lung inflammation
! An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.
[Term]
id: DOID:0050084 ! rhinotracheitis
relationship: has_phenotype MP:0001852 ! conjunctivitis
! An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.
[Term]
id: DOID:0050084 ! rhinotracheitis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! An upper respiratory tract disease involving inflammation of the nasal cavities and trachea caused by feline herpesvirus 1, of the family Herpesviridae in cats and especially young kittens that is characterized by sneezing, conjunctivitis with discharge, and nasal discharges.
[Term]
id: DOID:0050118 ! La Crosse encephalitis
relationship: has_phenotype MP:0000753 ! paralysis
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
[Term]
id: DOID:0050118 ! La Crosse encephalitis
relationship: has_phenotype MP:0002064 ! seizures
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
[Term]
id: DOID:0050118 ! La Crosse encephalitis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis.
[Term]
id: DOID:0050120 ! hemophagocytic lymphohistiocytosis
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
[Term]
id: DOID:0050120 ! hemophagocytic lymphohistiocytosis
relationship: has_phenotype MP:0005152 ! pancytopenia
! A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
[Term]
id: DOID:0050125 ! dengue shock syndrome
relationship: has_phenotype MP:0001596 ! hypotension
! A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.
[Term]
id: DOID:0050130 ! osmotic diarrhea
relationship: has_phenotype MP:0003267 ! constipation
! Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.
[Term]
id: DOID:0050130 ! osmotic diarrhea
relationship: has_phenotype MP:0005036 ! diarrhea
! Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.
[Term]
id: DOID:0050131 ! motility-related diarrhea
relationship: has_phenotype MP:0005036 ! diarrhea
! Motility-related diarrhea is a diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.
[Term]
id: DOID:0050132 ! inflammatory diarrhea
relationship: has_phenotype MP:0005036 ! diarrhea
! A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis.
[Term]
id: DOID:0050134 ! cutaneous mycosis
relationship: has_phenotype MP:0001212 ! skin lesions
! A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions.
[Term]
id: DOID:0050140 ! acute diarrhea
relationship: has_phenotype MP:0005036 ! diarrhea
! A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide.
[Term]
id: DOID:0050145 ! adenoiditis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has_symptom pain, has_symptom redness, has_symptom swelling, and has_symptom difficulty swallowing.
[Term]
id: DOID:0050147 ! otomycosis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans.
[Term]
id: DOID:0050148 ! laryngotracheitis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe.
[Term]
id: DOID:0050152 ! aspiration pneumonia
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
[Term]
id: DOID:0050152 ! aspiration pneumonia
relationship: has_phenotype MP:0003158 ! dysphagia
! A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
[Term]
id: DOID:0050152 ! aspiration pneumonia
relationship: has_phenotype MP:0005426 ! tachypnea
! A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.
[Term]
id: DOID:0050157 ! cryptogenic organizing pneumonia
relationship: has_phenotype MP:0001263 ! weight loss
! A idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
[Term]
id: DOID:0050157 ! cryptogenic organizing pneumonia
relationship: has_phenotype MP:0001861 ! lung inflammation
! A idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
[Term]
id: DOID:0050157 ! cryptogenic organizing pneumonia
relationship: has_phenotype MP:0002899 ! fatigue
! A idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.
[Term]
id: DOID:0050158 ! respiratory bronchiolitis-associated interstitial lung disease
relationship: has_phenotype MP:0002499 ! chronic inflammation
! A idiopathic interstitial pneumonia which involves bronchiolocentric alveolar macrophage accumulation, mild bronchiolar fibrosis and chronic inflammation. Respiratory bronchiolitis is a histopathologic lesion found in cigarette smokers and is characterized by the presence of pigmented intralumenal macrophages within first- and second-order respiratory bronchioles.
[Term]
id: DOID:0050158 ! respiratory bronchiolitis-associated interstitial lung disease
relationship: has_phenotype MP:0003045 ! fibrosis
! A idiopathic interstitial pneumonia which involves bronchiolocentric alveolar macrophage accumulation, mild bronchiolar fibrosis and chronic inflammation. Respiratory bronchiolitis is a histopathologic lesion found in cigarette smokers and is characterized by the presence of pigmented intralumenal macrophages within first- and second-order respiratory bronchioles.
[Term]
id: DOID:0050160 ! inhalation anthrax
relationship: has_phenotype MP:0001954 ! respiratory distress
! An anthrax disease that results_in infection located_in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches.
[Term]
id: DOID:0050174 ! Kunjin encephalitis
relationship: has_phenotype MP:0005202 ! lethargy
! A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy.
[Term]
id: DOID:0050175 ! tick-borne encephalitis
relationship: has_phenotype MP:0000753 ! paralysis
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
[Term]
id: DOID:0050175 ! tick-borne encephalitis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis.
[Term]
id: DOID:0050179 ! Powassan encephalitis
relationship: has_phenotype MP:0000745 ! tremors
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
[Term]
id: DOID:0050179 ! Powassan encephalitis
relationship: has_phenotype MP:0000753 ! paralysis
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
[Term]
id: DOID:0050179 ! Powassan encephalitis
relationship: has_phenotype MP:0002064 ! seizures
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
[Term]
id: DOID:0050179 ! Powassan encephalitis
relationship: has_phenotype MP:0003260 ! vomiting
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
[Term]
id: DOID:0050179 ! Powassan encephalitis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma.
[Term]
id: DOID:0050194 ! Argentine hemorrhagic fever
relationship: has_phenotype MP:0000221 ! decreased leukocyte cell number
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
[Term]
id: DOID:0050194 ! Argentine hemorrhagic fever
relationship: has_phenotype MP:0002899 ! fatigue
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
[Term]
id: DOID:0050194 ! Argentine hemorrhagic fever
relationship: has_phenotype MP:0003179 ! decreased platelet cell number
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
[Term]
id: DOID:0050195 ! Bolivian hemorrhagic fever
relationship: has_phenotype MP:0001914 ! hemorrhage
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
[Term]
id: DOID:0050195 ! Bolivian hemorrhagic fever
relationship: has_phenotype MP:0002899 ! fatigue
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Machupo virus, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts.
[Term]
id: DOID:0050196 ! Venezuelan hemorrhagic fever
relationship: has_phenotype MP:0000746 ! weakness
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
[Term]
id: DOID:0050196 ! Venezuelan hemorrhagic fever
relationship: has_phenotype MP:0000947 ! convulsive seizures
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
[Term]
id: DOID:0050196 ! Venezuelan hemorrhagic fever
relationship: has_phenotype MP:0003259 ! nausea
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
[Term]
id: DOID:0050196 ! Venezuelan hemorrhagic fever
relationship: has_phenotype MP:0003260 ! vomiting
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
[Term]
id: DOID:0050196 ! Venezuelan hemorrhagic fever
relationship: has_phenotype MP:0003261 ! hematemesis
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
[Term]
id: DOID:0050196 ! Venezuelan hemorrhagic fever
relationship: has_phenotype MP:0003292 ! melena
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Guanarito virus, which is transmitted_by cotton rat, Sigmodon alstoni and transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia.
[Term]
id: DOID:0050197 ! Brazilian hemorrhagic fever
relationship: has_phenotype MP:0001914 ! hemorrhage
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
[Term]
id: DOID:0050197 ! Brazilian hemorrhagic fever
relationship: has_phenotype MP:0002899 ! fatigue
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Sabia virus, which is transmitted_by rodents. The infection has_symptom fever, has_symptom eye redness, has_symptom fatigue, has_symptom dizziness, has_symptom muscle aches, has_symptom loss of strength, and has_symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears.
[Term]
id: DOID:0050198 ! Chapare hemorrhagic fever
relationship: has_phenotype MP:0001914 ! hemorrhage
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding.
[Term]
id: DOID:0050198 ! Chapare hemorrhagic fever
relationship: has_phenotype MP:0003260 ! vomiting
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Chapare virus. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom shock, and has_symptom bleeding.
[Term]
id: DOID:0050200 ! Korean hemorrhagic fever
relationship: has_phenotype MP:0002843 ! decreased systemic arterial blood pressure
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
[Term]
id: DOID:0050200 ! Korean hemorrhagic fever
relationship: has_phenotype MP:0003259 ! nausea
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
[Term]
id: DOID:0050200 ! Korean hemorrhagic fever
relationship: has_phenotype MP:0006149 ! blurred vision
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload.
[Term]
id: DOID:0050201 ! nephropathia epidemica
relationship: has_phenotype MP:0001634 ! internal hemorrhage
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Clethrionomys glareolus. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
[Term]
id: DOID:0050201 ! nephropathia epidemica
relationship: has_phenotype MP:0003259 ! nausea
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Clethrionomys glareolus. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
[Term]
id: DOID:0050201 ! nephropathia epidemica
relationship: has_phenotype MP:0003260 ! vomiting
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Clethrionomys glareolus. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
[Term]
id: DOID:0050201 ! nephropathia epidemica
relationship: has_phenotype MP:0003606 ! kidney failure
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Clethrionomys glareolus. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure.
[Term]
id: DOID:0050202 ! lujo hemorrhagic fever
relationship: has_phenotype MP:0001914 ! hemorrhage
! A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
[Term]
id: DOID:0050204 ! Epstein-Barr virus hepatitis
relationship: has_phenotype MP:0000611 ! jaundice
! A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
[Term]
id: DOID:0050204 ! Epstein-Barr virus hepatitis
relationship: has_phenotype MP:0002899 ! fatigue
! A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
[Term]
id: DOID:0050204 ! Epstein-Barr virus hepatitis
relationship: has_phenotype MP:0003259 ! nausea
! A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
[Term]
id: DOID:0050204 ! Epstein-Barr virus hepatitis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
[Term]
id: DOID:0050211 ! swine influenza
relationship: has_phenotype MP:0003259 ! nausea
! An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
[Term]
id: DOID:0050211 ! swine influenza
relationship: has_phenotype MP:0003260 ! vomiting
! An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
[Term]
id: DOID:0050211 ! swine influenza
relationship: has_phenotype MP:0005036 ! diarrhea
! An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
[Term]
id: DOID:0050211 ! swine influenza
relationship: has_phenotype MP:0005202 ! lethargy
! An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.
[Term]
id: DOID:0050242 ! primary amebic meningoencephalitis
relationship: has_phenotype MP:0002064 ! seizures
! A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
[Term]
id: DOID:0050242 ! primary amebic meningoencephalitis
relationship: has_phenotype MP:0003259 ! nausea
! A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
[Term]
id: DOID:0050242 ! primary amebic meningoencephalitis
relationship: has_phenotype MP:0003260 ! vomiting
! A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma.
[Term]
id: DOID:0050246 ! granulomatous amebic encephalitis
relationship: has_phenotype MP:0001641 ! death
! A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death.
[Term]
id: DOID:0050253 ! mesocestoidiasis
relationship: has_phenotype MP:0003259 ! nausea
! A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
[Term]
id: DOID:0050253 ! mesocestoidiasis
relationship: has_phenotype MP:0003260 ! vomiting
! A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
[Term]
id: DOID:0050253 ! mesocestoidiasis
relationship: has_phenotype MP:0005036 ! diarrhea
! A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
[Term]
id: DOID:0050254 ! acanthocephaliasis
relationship: has_phenotype MP:0001263 ! weight loss
! A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
[Term]
id: DOID:0050254 ! acanthocephaliasis
relationship: has_phenotype MP:0003259 ! nausea
! A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
[Term]
id: DOID:0050254 ! acanthocephaliasis
relationship: has_phenotype MP:0003260 ! vomiting
! A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
[Term]
id: DOID:0050254 ! acanthocephaliasis
relationship: has_phenotype MP:0003267 ! constipation
! A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
[Term]
id: DOID:0050254 ! acanthocephaliasis
relationship: has_phenotype MP:0005036 ! diarrhea
! A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
[Term]
id: DOID:0050259 ! baylisascariasis
relationship: has_phenotype MP:0001641 ! death
! A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
[Term]
id: DOID:0050259 ! baylisascariasis
relationship: has_phenotype MP:0002001 ! blindness
! A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death.
[Term]
id: DOID:0050266 ! tungiasis
relationship: has_phenotype MP:0004947 ! skin inflammation
! A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo.
[Term]
id: DOID:0050288 ! penicilliosis
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
[Term]
id: DOID:0050288 ! penicilliosis
relationship: has_phenotype MP:0001212 ! skin lesions
! An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
[Term]
id: DOID:0050288 ! penicilliosis
relationship: has_phenotype MP:0001263 ! weight loss
! An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
[Term]
id: DOID:0050288 ! penicilliosis
relationship: has_phenotype MP:0001577 ! anemia
! An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions.
[Term]
id: DOID:0050308 ! Alkhurma hemorrhagic fever
relationship: has_phenotype MP:0003179 ! decreased platelet cell number
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever.
[Term]
id: DOID:0050308 ! Alkhurma hemorrhagic fever
relationship: has_phenotype MP:0003260 ! vomiting
! A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever.
[Term]
id: DOID:0050339 ! commensal bacterial infectious disease
relationship: has_phenotype MP:0001924 ! infertility
! A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.
[Term]
id: DOID:0050352 ! foodborne botulism
relationship: has_phenotype MP:0003158 ! dysphagia
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis.
[Term]
id: DOID:0050352 ! foodborne botulism
relationship: has_phenotype MP:0006149 ! blurred vision
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis.
[Term]
id: DOID:0050352 ! foodborne botulism
relationship: has_phenotype MP:0006150 ! double vision
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted_by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has_symptom blurred vision, has_symptom diplopia, has_symptom dysarthria, has_symptom dysphonia, has_symptom dysphagia and has_symptom descending muscle paralysis.
[Term]
id: DOID:0050354 ! infant botulism
relationship: has_phenotype MP:0000747 ! muscle weakness
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
[Term]
id: DOID:0050354 ! infant botulism
relationship: has_phenotype MP:0001344 ! blepharoptosis
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
[Term]
id: DOID:0050354 ! infant botulism
relationship: has_phenotype MP:0003267 ! constipation
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
[Term]
id: DOID:0050354 ! infant botulism
relationship: has_phenotype MP:0005202 ! lethargy
! A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness.
[Term]
id: DOID:0050383 ! typhoidal tularemia
relationship: has_phenotype MP:0001263 ! weight loss
! A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss.
[Term]
id: DOID:0050434 ! Andersen-Tawil syndrome
relationship: has_phenotype MP:0002639 ! micrognathia
! A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
[Term]
id: DOID:0050434 ! Andersen-Tawil syndrome
relationship: has_phenotype MP:0004592 ! small mandible
! A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
[Term]
id: DOID:0050434 ! Andersen-Tawil syndrome
relationship: has_phenotype MP:0006253 ! clinodactyly
! A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
[Term]
id: DOID:0050473 ! Alstrom syndrome
relationship: has_phenotype MP:0002001 ! blindness
! An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
[Term]
id: DOID:0050473 ! Alstrom syndrome
relationship: has_phenotype MP:0004740 ! sensorineural hearing loss
! An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
[Term]
id: DOID:0050481 ! endemic typhus
relationship: has_phenotype MP:0003259 ! nausea
! A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash.
[Term]
id: DOID:0050481 ! endemic typhus
relationship: has_phenotype MP:0003260 ! vomiting
! A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted_by fleas (Xenopsylla cheopis). The infection has_symptom headache, has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom nausea, has_symptom vomiting, has_symptom cough and has_symptom rash.
[Term]
id: DOID:0050485 ! sennetsu fever
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
[Term]
id: DOID:0050485 ! sennetsu fever
relationship: has_phenotype MP:0002899 ! fatigue
! A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia.
[Term]
id: DOID:0050488 ! early congenital syphilis
relationship: has_phenotype MP:0000702 ! enlarged lymph nodes
! A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
[Term]
id: DOID:0050488 ! early congenital syphilis
relationship: has_phenotype MP:0001212 ! skin lesions
! A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
[Term]
id: DOID:0050488 ! early congenital syphilis
relationship: has_phenotype MP:0001848 ! choroid inflammation
! A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
[Term]
id: DOID:0050488 ! early congenital syphilis
relationship: has_phenotype MP:0001891 ! hydroencephaly
! A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
[Term]
id: DOID:0050488 ! early congenital syphilis
relationship: has_phenotype MP:0002064 ! seizures
! A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis.
[Term]
id: DOID:0050490 ! parenchymatous neurosyphilis
relationship: has_phenotype MP:0005202 ! lethargy
! A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy.
[Term]
id: DOID:0050491 ! meningovascular neurosyphilis
relationship: has_phenotype MP:0000746 ! weakness
! A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
[Term]
id: DOID:0050491 ! meningovascular neurosyphilis
relationship: has_phenotype MP:0000753 ! paralysis
! A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
[Term]
id: DOID:0050491 ! meningovascular neurosyphilis
relationship: has_phenotype MP:0005048 ! thrombosis
! A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
[Term]
id: DOID:0050491 ! meningovascular neurosyphilis
relationship: has_phenotype MP:0005150 ! cachexia
! A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
[Term]
id: DOID:0050491 ! meningovascular neurosyphilis
relationship: has_phenotype MP:0006149 ! blurred vision
! A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
[Term]
id: DOID:0050491 ! meningovascular neurosyphilis
relationship: has_phenotype MP:0009434 ! paraparesis
! A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
[Term]
id: DOID:0050491 ! meningovascular neurosyphilis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A tertiary neurosyphilis that results_in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has_symptom poor concentration, has_symptom memory loss, has_symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
[Term]
id: DOID:0050513 ! spinal polio
relationship: has_phenotype MP:0000753 ! paralysis
! A paralytic poliomyelitis that results_in destruction located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, and has_symptom paralysis of arms and legs.
[Term]
id: DOID:0050514 ! bulbospinal polio
relationship: has_phenotype MP:0000753 ! paralysis
! A paralytic poliomyelitis that results_in destruction located_in motor neurons of brainstem or located_in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom difficulty breathing, has_symptom difficulty swallowing, and has_symptom paralysis of arms and legs.
[Term]
id: DOID:0050515 ! paralytic poliomyelitis
relationship: has_phenotype MP:0000743 ! muscle spasm
! A poliomyelitis that results_in destruction located_in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted_by ingestion of food or water contaminated with feces, or transmitted_by direct contact with the oral secretions. The infection has_symptom loss of reflexes, has_symptom muscle spasms, and has_symptom acute flaccid paralysis.
[Term]
id: DOID:0050516 ! O'nyong'nyong fever
relationship: has_phenotype MP:0003865 ! lymph node inflammation
! A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
[Term]
id: DOID:0050521 ! Oropouche fever
relationship: has_phenotype MP:0003260 ! vomiting
! A viral infectious disease that results_in infection, has_material_basis_in Oropouche virus, which is transmitted_by biting midge, Culicoides paraensis. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom anorexia, has_symptom muscle pain, has_symptom joint pain, and has_symptom vomiting.
[Term]
id: DOID:0050522 ! Balkan hemorrhagic fever
relationship: has_phenotype MP:0003606 ! kidney failure
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
[Term]
id: DOID:0050522 ! Balkan hemorrhagic fever
relationship: has_phenotype MP:0008816 ! petechiae
! A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Dobrava-Belgrade virus , which is transmitted_by yellow-necked field mouse, Apodemus flavicollis. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
[Term]
id: DOID:0050523 ! adult T-cell leukemia
relationship: has_phenotype MP:0001212 ! skin lesions
! A T-cell leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.
[Term]
id: DOID:0050553 ! JMP syndrome
relationship: has_phenotype MP:0001190 ! reddish skin
! An autosomal receessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.
[Term]
id: DOID:0050553 ! JMP syndrome
relationship: has_phenotype MP:0001212 ! skin lesions
! An autosomal receessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.
[Term]
id: DOID:0050553 ! JMP syndrome
relationship: has_phenotype MP:0011174 ! lipodystrophy
! An autosomal receessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy.
[Term]
id: DOID:0050576 ! Senior-Loken syndrome
relationship: has_phenotype MP:0005150 ! cachexia
! An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.
[Term]
id: DOID:0050597 ! intestinal schistosomiasis
relationship: has_phenotype MP:0005011 ! increased eosinophil cell number
! A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
[Term]
id: DOID:0050597 ! intestinal schistosomiasis
relationship: has_phenotype MP:0005036 ! diarrhea
! A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
[Term]
id: DOID:0050601 ! ADULT syndrome
relationship: has_phenotype MP:0000416 ! sparse hair
! An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63
[Term]
id: DOID:0050670 ! ataxic cerebral palsy
relationship: has_phenotype MP:0000745 ! tremors
! A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
[Term]
id: DOID:0050670 ! ataxic cerebral palsy
relationship: has_phenotype MP:0004144 ! hypotonia
! A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing.
[Term]
id: DOID:0050672 ! dyskinetic cerebral palsy
relationship: has_phenotype MP:0004143 ! hypertonia
! A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
[Term]
id: DOID:0050672 ! dyskinetic cerebral palsy
relationship: has_phenotype MP:0004144 ! hypotonia
! A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.
[Term]
id: DOID:0050710 ! 3-Methylcrotonyl-CoA carboxylase deficiency
relationship: has_phenotype MP:0002269 ! muscular atrophy
! An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
[Term]
id: DOID:0050710 ! 3-Methylcrotonyl-CoA carboxylase deficiency
relationship: has_phenotype MP:0005036 ! diarrhea
! An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
[Term]
id: DOID:0050710 ! 3-Methylcrotonyl-CoA carboxylase deficiency
relationship: has_phenotype MP:0005202 ! lethargy
! An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
[Term]
id: DOID:0050740 ! Qazi Markouizos syndrome
relationship: has_phenotype MP:0004144 ! hypotonia
! A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation.
[Term]
id: DOID:0060000 ! infective endocarditis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A heart disease involving inflammation of the endocardium (inner layer of the heart) caused by bacterial infection.
[Term]
id: DOID:0060013 ! gamma chain deficiency
relationship: has_phenotype MP:0002536 ! severe combined immunodeficiency disease
! A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
[Term]
id: DOID:0060017 ! CD3epsilon deficiency
relationship: has_phenotype MP:0001791 ! immunodeficiency
! A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
[Term]
id: DOID:0060018 ! CD3gamma deficiency
relationship: has_phenotype MP:0001791 ! immunodeficiency
! A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
[Term]
id: DOID:0060020 ! reticular dysgenesis
relationship: has_phenotype MP:0001823 ! thymus hypoplasia
! A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
[Term]
id: DOID:0060020 ! reticular dysgenesis
relationship: has_phenotype MP:0005016 ! decreased lymphocyte cell number
! A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
[Term]
id: DOID:0060020 ! reticular dysgenesis
relationship: has_phenotype MP:0002536 ! severe combined immunodeficiency disease
! A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
[Term]
id: DOID:0060021 ! DNA ligase IV deficiency
relationship: has_phenotype MP:0001791 ! immunodeficiency
! A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
[Term]
id: DOID:0060022 ! CD40 ligand deficiency
relationship: has_phenotype MP:0001791 ! immunodeficiency
! A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
[Term]
id: DOID:0060024 ! lambda 5 deficiency
relationship: has_phenotype MP:0002539 ! B cell deficiency
! A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
[Term]
id: DOID:0060025 ! immunoglobulin alpha deficiency
relationship: has_phenotype MP:0002539 ! B cell deficiency
! A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
[Term]
id: DOID:0060027 ! B cell linker protein deficiency
relationship: has_phenotype MP:0002539 ! B cell deficiency
! A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.
[Term]
id: DOID:0060062 ! familial juvenile hyperuricemic nephropathy
relationship: has_phenotype MP:0008821 ! increased blood uric acid level
! A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
[Term]
id: DOID:0060169 ! benign familial infantile epilepsy
relationship: has_phenotype MP:0000947 ! convulsive seizures
! An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
[Term]
id: DOID:0060178 ! familial hemiplegic migraine
relationship: has_phenotype MP:0000746 ! weakness
! A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
[Term]
id: DOID:0060179 ! Renpenning syndrome
relationship: has_phenotype MP:0000433 ! microcephaly
! An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
[Term]
id: DOID:0060179 ! Renpenning syndrome
relationship: has_phenotype MP:0001147 ! small testis
! An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
[Term]
id: DOID:0060179 ! Renpenning syndrome
relationship: has_phenotype MP:0001255 ! decreased body height
! An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
[Term]
id: DOID:0080022 ! McKusick type metaphyseal dysplasia
relationship: has_phenotype MP:0000416 ! sparse hair
! A metaphyseal dysplasia that results_in short-limbed dwarfism and fine sparse hair.
[Term]
id: DOID:0080026 ! otospondylomegaepiphyseal dysplasia
relationship: has_phenotype MP:0011175 ! platyspondylia
! An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
[Term]
id: DOID:0080028 ! spondyloepimetaphyseal dysplasia, Strudwick type
relationship: has_phenotype MP:0000161 ! scoliosis
! A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
[Term]
id: DOID:0080028 ! spondyloepimetaphyseal dysplasia, Strudwick type
relationship: has_phenotype MP:0000162 ! lordosis
! A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
[Term]
id: DOID:0080028 ! spondyloepimetaphyseal dysplasia, Strudwick type
relationship: has_phenotype MP:0000576 ! clubfoot
! A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
[Term]
id: DOID:0080028 ! spondyloepimetaphyseal dysplasia, Strudwick type
relationship: has_phenotype MP:0001255 ! decreased body height
! A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
[Term]
id: DOID:0080028 ! spondyloepimetaphyseal dysplasia, Strudwick type
relationship: has_phenotype MP:0011175 ! platyspondylia
! A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
[Term]
id: DOID:0080032 ! craniodiaphyseal dysplasia
relationship: has_phenotype MP:0005422 ! osteosclerosis
! An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.
[Term]
id: DOID:0080033 ! craniometaphyseal dysplasia
relationship: has_phenotype MP:0005422 ! osteosclerosis
! An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thickening located_in skull and abnormally shaped ends of long bones in the limbs.
[Term]
id: DOID:0080036 ! SOST-related sclerosing bone dysplasia
relationship: has_phenotype MP:0009877 ! exostosis
! A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull.
[Term]
id: DOID:0080037 ! Worth's syndrome
relationship: has_phenotype MP:0009877 ! exostosis
! A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
[Term]
id: DOID:0080037 ! Worth's syndrome
relationship: has_phenotype MP:0000062 ! increased bone mineral density
! A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate.
[Term]
id: DOID:0080038 ! pycnodysostosis
relationship: has_phenotype MP:0000067 ! osteopetrosis
! An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges.
[Term]
id: DOID:0080039 ! axial osteomalacia
relationship: has_phenotype MP:0005422 ! osteosclerosis
! An osteosclerosis that results_in coarsening located_in trabecular bone.
[Term]
id: DOID:0080043 ! achondrogenesis
relationship: has_phenotype MP:0001641 ! death
! An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.
[Term]
id: DOID:0080044 ! hypochondrogenesis
relationship: has_phenotype MP:0002192 ! hydrops fetalis
! An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
[Term]
id: DOID:0080045 ! Kniest dysplasia
relationship: has_phenotype MP:0001258 ! decreased body length
! An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face.
[Term]
id: DOID:0080052 ! acromesomelic dysplasia, Grebe type
relationship: has_phenotype MP:0008736 ! micromelia
! An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
[Term]
id: DOID:0080053 ! Albright's hereditary osteodystrophy
relationship: has_phenotype MP:0001255 ! decreased body height
! An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.
[Term]
id: DOID:0080053 ! Albright's hereditary osteodystrophy
relationship: has_phenotype MP:0001261 ! obese
! An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.
[Term]
id: DOID:0080055 ! achondrogenesis type IB
relationship: has_phenotype MP:0006077 ! inguinal hernia
! An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
[Term]
id: DOID:0080056 ! achondrogenesis type II
relationship: has_phenotype MP:0002192 ! hydrops fetalis
! An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
[Term]
id: DOID:10039 ! late congenital syphilis
relationship: has_phenotype MP:0000754 ! paresis
! A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities.
[Term]
id: DOID:10075 ! diphyllobothriasis
relationship: has_phenotype MP:0001263 ! weight loss
! A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
[Term]
id: DOID:10075 ! diphyllobothriasis
relationship: has_phenotype MP:0003260 ! vomiting
! A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
[Term]
id: DOID:10075 ! diphyllobothriasis
relationship: has_phenotype MP:0005036 ! diarrhea
! A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.
[Term]
id: DOID:10159 ! osteonecrosis
relationship: has_phenotype MP:0001651 ! necrosis
! An ischemic bone disease that results_in necrosis located_in bone.
[Term]
id: DOID:10223 ! dermatomyositis
relationship: has_phenotype MP:0004510 ! myositis
! A myositis that results_in inflammation located_in muscle or located_in skin. The disease may result from either a viral infection or an autoimmune reaction.
[Term]
id: DOID:10223 ! dermatomyositis
relationship: has_phenotype MP:0001845 ! abnormal inflammatory response
! A myositis that results_in inflammation located_in muscle or located_in skin. The disease may result from either a viral infection or an autoimmune reaction.
[Term]
id: DOID:1024 ! leprosy
relationship: has_phenotype MP:0001212 ! skin lesions
! A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
[Term]
id: DOID:10242 ! ehrlichiosis
relationship: has_phenotype MP:0002899 ! fatigue
! A primary bacterial infectious disease that results_in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone start stick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash.