databio/diseases-msmarco · Datasets at Hugging Face

anchor stringlengths 13 90	positive stringlengths 1 953
What is beta-lactam allergy?	A drug allergy triggered by a beta-lactam (β-lactam).
What is diffuse large B-cell lymphoma?	A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.
What is hypertelorism, microtia, facial clefting syndrome?	An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.
What is aspiration pneumonitis?	A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.
What is partial fetal alcohol syndrome?	A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.
What is myelodysplastic myeloproliferative cancer?	A bone marrow cancer that results_in the overproduction of white blood cells.
What is thrombocytosis?	A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood.
What is diffuse idiopathic skeletal hyperostosis?	A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
What is autosomal dominant sideroblastic anemia?	A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.
What is childhood embryonal testis carcinoma?	An embryonal testis carcinoma that occurs in children.
What is carcinoma?	A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
What is pulmonary actinomycosis?	An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses.
What is mitochondrial complex III deficiency nuclear type 2?	A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.
What is adiaspiromycosis?	A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.
What is bronchial disease?	A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.
What is endocervical adenocarcinoma?	An endocervical carcinoma that derives_from epithelial cells of glandular origin.
What is lymphocytic colitis?	A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
What is DiGeorge syndrome?	A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
What is cardiovascular syphilis?	A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.
What is patulous eustachian tube?	A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.
What is Bruton-type agammaglobulinemia?	A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
What is upper respiratory tract disease?	A respiratory system disease which involves the upper respiratory tract.
What is extragonadal germ cell cancer?	A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary.
What is granulomatous amebic encephalitis?	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.
What is sarcomatoid transitional cell carcinoma?	A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.
What is psychotic disorder?	A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.
What is renal clear cell carcinoma?	A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.
What is leptospirosis?	A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly.
What is norwegian scabies?	A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.
What is endophthalmitis?	A globe disease that is characterized by inflammation of the inside of the eye.
What is plantar wart?	A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot.
What is osteopoikilosis?	An osteosclerosis that results_in numerous bone islands located_in skeleton.
What is Rett syndrome?	A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.
What is Goldenhar syndrome?	A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
What is clivus chondroid chordoma?	A chondroid chordoma and chordoma of the clivus that is located_in the clivus.
What is schizoaffective disorder?	A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.
What is inhalation anthrax?	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.
What is McCune Albright syndrome?	An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene.
What is tick-borne encephalitis?	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.
What is episodic ataxia?	A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.
What is fungal gastritis?	A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.
What is thyroid sarcoma?	A thyroid cancer that is located_in the supporting cells of the thyroid.
What is larynx sarcoma?	A larynx cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
What is Oropouche fever?	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.
What is peripheral artery disease?	An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
What is conidiobolomycosis?	An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.
What is eccrine adenocarcinoma?	An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin.
What is seborrheic dermatitis?	A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.
What is motility-related 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.
What is Scopulariopsis brevicaulis infectious disease?	An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.
What is mucinous cystadenocarcinoma?	A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.
What is bone inflammation disease?	A bone disease that results_in inflammation of the located_in bone.
What is cerebrotendinous xanthomatosis?	A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.
What is pycnodysostosis?	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.
What is seminoma?	A germinoma that has_material_basis_in cells that make sperm and eggs.
What is malt worker's lung?	An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.
What is mesenchymal cell neoplasm?	A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.
What is organic acidemia?	An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
What is polioencephalitis?	An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma.
What is papillary cystadenocarcinoma?	A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.
What is B cell linker protein 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.
What is congestive heart failure?	A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
What is uterine carcinosarcoma?	A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.
What is Rubella virus infectious disease?	A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method.
What is reticular dysgenesis?	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.
What is melioidosis?	A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
What is serous cystadenocarcinoma?	A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.
What is lichen planus?	A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.
What is oral tuberculosis?	A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible.
What is dengue shock syndrome?	A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus 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.
What is pediatric angiosarcoma?	An angiosarcoma that affects children.
What is Miller-Dieker lissencephaly syndrome?	A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.
What is pulmonary sporotrichosis?	A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.
What is trichorhinophalangeal syndrome I?	A
What is Loeffler syndrome?	An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection.
What is brain glioma?	A brain cancer that has_material_basis_in glial cells.
What is anaplastic renal Wilms' tumor?	A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted.
What is mediastinum leiomyosarcoma?	A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels.
What is gallbladder leiomyosarcoma?	A gallbladder sarcoma that is located_in the gallbladder.
What is Caliciviridae infectious disease?	A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses.
What is salivary gland adenoid cystic carcinoma?	A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
What is Parvoviridae infectious disease?	A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses.
What is kidney liposarcoma?	A liposarcoma that is located_in the kidney.
What is malignant hyperthermia?	A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.
What is mucinous adenocarcinoma?	An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.
What is hypoparathyroidism?	A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
What is lung adenocarcinoma?	A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin.
What is metastatic carcinoma?	A carcinoma that is able to grow at sites distant from the primary site of origin.
What is ARC syndrome?	A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3..
What is autosomal recessive disease?	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
What is mixed germ cell cancer?	A germ cell cancer that occurs in many forms.
What is lymphoid interstitial pneumonia?	An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.
What is Newcastle disease?	A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.
What is Coxiella burnetii hepatitis?	A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice.
What is Flinders Island spotted fever?	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.
What is bone carcinoma?	A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
What is desquamative interstitial pneumonia?	An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.
What is severe acute respiratory syndrome?	A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
What is heavy chain disease?	A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
What is alcohol abuse?	A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.

What is beta-lactam allergy?

A drug allergy triggered by a beta-lactam (β-lactam).

What is diffuse large B-cell lymphoma?

A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body.

What is hypertelorism, microtia, facial clefting syndrome?

An autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia.

What is aspiration pneumonitis?

A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disesae has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration.

What is partial fetal alcohol syndrome?

A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.

What is myelodysplastic myeloproliferative cancer?

A bone marrow cancer that results_in the overproduction of white blood cells.

What is thrombocytosis?

A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood.

What is diffuse idiopathic skeletal hyperostosis?

A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.

What is autosomal dominant sideroblastic anemia?

A sideroblastic anemia characterized by an autosomal dominant inheritance pattern.

What is childhood embryonal testis carcinoma?

An embryonal testis carcinoma that occurs in children.

What is carcinoma?

A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.

What is pulmonary actinomycosis?

An actinomycosis that results_in infection, has_material_basis_in Actinomyces israelii or has_material_basis_in Actinomyces gerencseriae. It results in lung cavities, lung nodules, and pleural effusion. The infection has_symptom chest pain, has_symptom cough with sputum, has_symptom fever, has_symptom lethargy, has_symptom night sweats, has_symptom shortness of breath, has_symptom weight loss, and has_symptom draining of sinuses.

What is mitochondrial complex III deficiency nuclear type 2?

A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.

What is adiaspiromycosis?

A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens.

What is bronchial disease?

A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage.

What is endocervical adenocarcinoma?

An endocervical carcinoma that derives_from epithelial cells of glandular origin.

What is lymphocytic colitis?

A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).

What is DiGeorge syndrome?

A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.

What is cardiovascular syphilis?

A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries.

What is patulous eustachian tube?

A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.

What is Bruton-type agammaglobulinemia?

A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.

What is upper respiratory tract disease?

A respiratory system disease which involves the upper respiratory tract.

What is extragonadal germ cell cancer?

A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary.

What is granulomatous amebic encephalitis?

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.

What is sarcomatoid transitional cell carcinoma?

A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium.

What is psychotic disorder?

A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.

What is renal clear cell carcinoma?

A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.

What is leptospirosis?

A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly.

What is norwegian scabies?

A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching.

What is endophthalmitis?

A globe disease that is characterized by inflammation of the inside of the eye.

What is plantar wart?

A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot.

What is osteopoikilosis?

An osteosclerosis that results_in numerous bone islands located_in skeleton.

What is Rett syndrome?

A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.

What is Goldenhar syndrome?

A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

What is clivus chondroid chordoma?

A chondroid chordoma and chordoma of the clivus that is located_in the clivus.

What is schizoaffective disorder?

A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality.

What is inhalation anthrax?

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.

What is McCune Albright syndrome?

An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene.

What is tick-borne encephalitis?

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.

What is episodic ataxia?

A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.

What is fungal gastritis?

A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients.

What is thyroid sarcoma?

A thyroid cancer that is located_in the supporting cells of the thyroid.

What is larynx sarcoma?

A larynx cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.

What is Oropouche fever?

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.

What is peripheral artery disease?

An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.

What is conidiobolomycosis?

An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions.

What is eccrine adenocarcinoma?

An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin.

What is seborrheic dermatitis?

A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.

What is motility-related 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.

What is Scopulariopsis brevicaulis infectious disease?

An opportunistic mycosis that results_in fungal infection located_in nail, has_material_basis_in Scopulariopsis brevicaulis and has_symptom rough nail, and has_symptom crumbly nail which can separate from the nail bed.

What is mucinous cystadenocarcinoma?

A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.

What is bone inflammation disease?

A bone disease that results_in inflammation of the located_in bone.

What is cerebrotendinous xanthomatosis?

A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.

What is pycnodysostosis?

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.

What is seminoma?

A germinoma that has_material_basis_in cells that make sperm and eggs.

What is malt worker's lung?

An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley.

What is mesenchymal cell neoplasm?

A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system.

What is organic acidemia?

An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.

What is polioencephalitis?

An Enterovirus infectious disease that results_in inflammation located_in brain, has_material_basis_in polioviruses, which are transmitted_by ingestion of food contaminated with feces. The infection has_symptom tremors, has_symptom nystagmus, has_symptom loss of conjugate eye movements, has_symptom muscle rigidity, has_symptom hemiparesis, and has_symptom coma.

What is papillary cystadenocarcinoma?

A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections.

What is B cell linker protein 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.

What is congestive heart failure?

A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.

What is uterine carcinosarcoma?

A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.

What is Rubella virus infectious disease?

A viral infectious disease that results_in infection, has_material_basis_in Rubella virus, which is transmitted_by direct contact with the infected person through coughing and sneezing, and transmitted_by congenital method.

What is reticular dysgenesis?

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.

What is melioidosis?

A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.

What is serous cystadenocarcinoma?

A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.

What is lichen planus?

A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.

What is oral tuberculosis?

A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located_in tongue, located_in palate, located_in maxilla or located_in mandible.

What is dengue shock syndrome?

A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus 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.

What is pediatric angiosarcoma?

An angiosarcoma that affects children.

What is Miller-Dieker lissencephaly syndrome?

A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.

What is pulmonary sporotrichosis?

A primary systemic mycosis that results_in fungal infection located_in lung, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which is transmitted_by airborne spores and has_symptom productive cough, has_symptom nodules and cavitations of the lungs, has_symptom fibrosis, and has_symptom swollen hilar lymph nodes.

What is trichorhinophalangeal syndrome I?

A

What is Loeffler syndrome?

An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection.

What is brain glioma?

A brain cancer that has_material_basis_in glial cells.

What is anaplastic renal Wilms' tumor?

A nephroblastoma that results_in an unfavorable appearance under the microscope. They are characterized by a cell nuclei that tends to be very large and distorted.

What is mediastinum leiomyosarcoma?

A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels.

What is gallbladder leiomyosarcoma?

A gallbladder sarcoma that is located_in the gallbladder.

What is Caliciviridae infectious disease?

A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses.

What is salivary gland adenoid cystic carcinoma?

A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.

What is Parvoviridae infectious disease?

A ssDNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Parvoviridae viruses.

What is kidney liposarcoma?

A liposarcoma that is located_in the kidney.

What is malignant hyperthermia?

A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.

What is mucinous adenocarcinoma?

An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.

What is hypoparathyroidism?

A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.

What is lung adenocarcinoma?

A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin.

What is metastatic carcinoma?

A carcinoma that is able to grow at sites distant from the primary site of origin.

What is ARC syndrome?

A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis, caused_by homozygous or compound heterozygous mutation located_in VPS33B gene or caused_by homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3..

What is autosomal recessive disease?

An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.

What is mixed germ cell cancer?

A germ cell cancer that occurs in many forms.

What is lymphoid interstitial pneumonia?

An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses.

What is Newcastle disease?

A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Newcastle disease virus, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds.

What is Coxiella burnetii hepatitis?

A Q fever that involves inflammation of the liver caused by Coxiella burnetti, which results in the formation of granulomas. The symptoms include fever, malaise, hepatomegaly with right upper abdominal pain, and jaundice.

What is Flinders Island spotted fever?

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.

What is bone carcinoma?

A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.

What is desquamative interstitial pneumonia?

An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation.

What is severe acute respiratory syndrome?

A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.

What is heavy chain disease?

A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.

What is alcohol abuse?

A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.