databio/diseases-msmarco · Datasets at Hugging Face

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What is atrophic rhinitis?	A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues.
What is angiolipoma?	A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.
What is placenta disease?	A uterine disease that is located_in the placenta.
What is congenital ptosis?	A ptosis characterized by eyelid drop present at birth.
What is vitamin B12 deficiency?	A vitamin metabolic disorder that results from low blood levels of vitamin B12.
What is coronary artery disease?	An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
What is Barth syndrome?	A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
What is exostosis?	A hyperostosis that involves formation of new bone on the surface of preexisting bone.
What is Kohler's disease?	An osteochondrosis that results_in death and collapse located_in navicular bone of foot.
What is avian influenza?	An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.
What is parenchymatous neurosyphilis?	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.
What is endothrix infectious disease?	A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.
What is Queensland tick typhus?	A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.
What is epiglottitis?	An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.
What is olivopontocerebellar atrophy?	A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
What is lujo hemorrhagic fever?	A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.
What is apraxia?	An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
What is chronic tic disorder?	A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.
What is Goldberg-Shprintzen syndrome?	A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
What is congenital dyserythropoietic anemia?	A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
What is Stargardt disease?	An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
What is scirrhous adenocarcinoma?	An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.
What is prostate angiosarcoma?	An angiosarcoma and sarcoma of prostate that is located_in the prostate.
What is Duchenne muscular dystrophy?	A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
What is papillary serous adenocarcinoma?	A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.
What is purine nucleoside phosphorylase deficiency?	A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function.
What is focal epithelial hyperplasia?	A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.
What is disease of mental health?	A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
What is mu chain disease?	A heavy chain disease that results from an overproduction of mu antibody (IgM).
What is nervous system cancer?	An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system.
What is Kennedy's disease?	A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine)\nin exon 1 of AR gene encoding the androgen receptor.
What is Polyomavirus infectious disease?	A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer.
What is sex cord-gonadal stromal tumor?	A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis.
What is disseminated sporotrichosis?	A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.
What is Sjogren's syndrome?	A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
What is uterine fibroid?	A uterine benign neoplasm derived from the smooth muscle layer of the uterus.
What is Ebstein anomaly?	A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
What is listeriosis?	A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.
What is autoimmune disease of blood?	A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.
What is meningioma?	A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid \cap\" cells of the arachnoid villi in the meninges."
What is trichotillomania?	An impulse control disorder that involves the uncontrollable plucking of ones hair.
What is Enterobacter aerogenes intestinal infectious disease?	An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers.
What is integumentary system disease?	A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
What is vitreous disease?	An eye and adnexa disease that is located in the vitreous of the eye.
What is hyperuricemia?	An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
What is choreatic disease?	A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.
What is visceral heterotaxy?	A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
What is autoimmune disease of gastrointestinal tract?	A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.
What is mirror agnosia?	An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
What is congenital kyphosis?	A kyphosis that results_in abnormal formation located_in body of vertebra.
What is serous labyrinthitis?	A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.
What is spinal muscular atrophy?	A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
What is hemochromatosis?	A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
What is Cytomegalovirus encephalitis?	A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies.
What is parotitis?	A parotid disease characterized by the inflammation of one or both parotid glands.
What is myeloma?	A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.
What is septicemic plague?	A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs.
What is hemorrhagic fever with renal syndrome?	A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. 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.
What is eye and adnexa disease?	A sensory system disease that is located_in the eye or the adnexa of the eye.
What is sinusitis?	A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
What is axillary lipoma?	An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.
What is frontal sinusitis?	A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.
What is superficial urinary bladder cancer?	A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.
What is Chediak-Higashi syndrome?	An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the CHS1 gene.
What is Maffucci syndrome?	A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
What is narcolepsy?	A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
What is ventricular septal defect?	A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
What is genetic disease?	A disease that has_material_basis_in genetic variations in the human genome.
What is skin cancer?	An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.
What is ileitis?	An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
What is Plasmodium vivax malaria?	A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.
What is adenovirus gastroenteritis?	An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever.
What is extraocular retinoblastoma?	A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body.
What is Banna virus encephalitis?	A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache.
What is AIDS-related oropharyngeal candidiasis?	An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients.
What is thrombocytopenia?	A blood platelet disease characterized by low a platelet count in the blood.
What is shigellosis?	A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.
What is adenofibroma?	A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
What is peanut allergy?	A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.
What is pseudomembranous diphtheritic conjunctivitis?	A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane.
What is toxic pneumonitis?	A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.
What is enteroinvasive Escherichia coli infectious disease?	An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever.
What is neuroaspergillosis?	An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.
What is sideroblastic anemia?	An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
What is multiple chemical sensitivity?	A syndrome that is an adverse physical reaction to low levels of many common chemicals.
What is monkeypox?	A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy.
What is antidepressant type abuse?	A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.
What is parasitic Ichthyosporea infectious disease?	A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.
What is larynx leiomyosarcoma?	A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx.
What is bradyopsia?	A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes.
What is early congenital syphilis?	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.
What is acrofacial dysostosis Cincinnati type?	An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11.
What is succinic semialdehyde dehydrogenase deficiency?	A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
What is Parkinson's disease?	A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
What is green mud crab allergy?	A crustacean allergy triggered by Scylla paramamosain.
What is goat milk allergy?	A milk allergy triggered by Capra hircus milk.
What is Mumps virus polyneuritis?	A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness.
What is Herpes simplex virus iridocyclitis?	A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision.
What is eosinophilic pneumonia?	A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night.
What is sleep disorder?	A disease of mental health that involves disruption of sleep patterns.

What is atrophic rhinitis?

A rhinitis which involves inflammation of the nose characterised by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues.

What is angiolipoma?

A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma.

What is placenta disease?

A uterine disease that is located_in the placenta.

What is congenital ptosis?

A ptosis characterized by eyelid drop present at birth.

What is vitamin B12 deficiency?

A vitamin metabolic disorder that results from low blood levels of vitamin B12.

What is coronary artery disease?

An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.

What is Barth syndrome?

A lipid metabolism disorder that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.

What is exostosis?

A hyperostosis that involves formation of new bone on the surface of preexisting bone.

What is Kohler's disease?

An osteochondrosis that results_in death and collapse located_in navicular bone of foot.

What is avian influenza?

An influenza that results_in infection located_in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted_by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.

What is parenchymatous neurosyphilis?

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.

What is endothrix infectious disease?

A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only.

What is Queensland tick typhus?

A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy.

What is epiglottitis?

An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor.

What is olivopontocerebellar atrophy?

A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.

What is lujo hemorrhagic fever?

A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding.

What is apraxia?

An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.

What is chronic tic disorder?

A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year.

What is Goldberg-Shprintzen syndrome?

A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It is caused by homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.

What is congenital dyserythropoietic anemia?

A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.

What is Stargardt disease?

An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

What is scirrhous adenocarcinoma?

An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma.

What is prostate angiosarcoma?

An angiosarcoma and sarcoma of prostate that is located_in the prostate.

What is Duchenne muscular dystrophy?

A muscular dystrophy that has_material_basis_in X-linked disease caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

What is papillary serous adenocarcinoma?

A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.

What is purine nucleoside phosphorylase deficiency?

A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder caused by a mutaion in the PNP gene and characterized mainly by decreased T-cell function.

What is focal epithelial hyperplasia?

A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.

What is disease of mental health?

A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.

What is mu chain disease?

A heavy chain disease that results from an overproduction of mu antibody (IgM).

What is nervous system cancer?

An organ system cancer located_in the nervous sytem that affects the central or peripheral nervous system.

What is Kennedy's disease?

A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine)\nin exon 1 of AR gene encoding the androgen receptor.

What is Polyomavirus infectious disease?

A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer.

What is sex cord-gonadal stromal tumor?

A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis.

What is disseminated sporotrichosis?

A primary systemic mycosis that results_in systemic fungal infection through hematogenous spread, has_material_basis_in Sporothrix schenckii, a dimorphic fungus.

What is Sjogren's syndrome?

A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.

What is uterine fibroid?

A uterine benign neoplasm derived from the smooth muscle layer of the uterus.

What is Ebstein anomaly?

A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.

What is listeriosis?

A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth.

What is autoimmune disease of blood?

A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood.

What is meningioma?

A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid \cap\" cells of the arachnoid villi in the meninges."

What is trichotillomania?

An impulse control disorder that involves the uncontrollable plucking of ones hair.

What is Enterobacter aerogenes intestinal infectious disease?

An intestinal infectious disease that involves infection of the intestine by nosocomial bacterium Enterobacter aerogenes, which results in formation of ulcers.

What is integumentary system disease?

A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.

What is vitreous disease?

An eye and adnexa disease that is located in the vitreous of the eye.

What is hyperuricemia?

An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.

What is choreatic disease?

A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.

What is visceral heterotaxy?

A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.

What is autoimmune disease of gastrointestinal tract?

A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract.

What is mirror agnosia?

An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.

What is congenital kyphosis?

A kyphosis that results_in abnormal formation located_in body of vertebra.

What is serous labyrinthitis?

A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections.

What is spinal muscular atrophy?

A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.

What is hemochromatosis?

A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.

What is Cytomegalovirus encephalitis?

A Cytomegalovirus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 5, has_symptom confusional syndrome, has_symptom seizures, has_symptom coma, has_symptom dysphasia, and has_symptom cranial nerve palsies.

What is parotitis?

A parotid disease characterized by the inflammation of one or both parotid glands.

What is myeloma?

A bone marrow cancer that affects plasma cells in which abnormal plasma cells multiply uncontrollably in the bone marrow and occasionally in other parts of the body.

What is septicemic plague?

A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs.

What is hemorrhagic fever with renal syndrome?

A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. 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.

What is eye and adnexa disease?

A sensory system disease that is located_in the eye or the adnexa of the eye.

What is sinusitis?

A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.

What is axillary lipoma?

An organ system benign neoplasm located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue.

What is frontal sinusitis?

A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead.

What is superficial urinary bladder cancer?

A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.

What is Chediak-Higashi syndrome?

An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is caused by mutations in the CHS1 gene.

What is Maffucci syndrome?

A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.

What is narcolepsy?

A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.

What is ventricular septal defect?

A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.

What is genetic disease?

A disease that has_material_basis_in genetic variations in the human genome.

What is skin cancer?

An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.

What is ileitis?

An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.

What is Plasmodium vivax malaria?

A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.

What is adenovirus gastroenteritis?

An adenovirus infectious disease that involves damage of the cells in the lining of the stomach and intestines caused by adenoviruses (types 40 and 41). The symptoms include watery diarrhea, vomiting and fever.

What is extraocular retinoblastoma?

A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body.

What is Banna virus encephalitis?

A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Banna virus, which is transmitted_by Culex, and transmitted_by Anopheles mosquitoes. The infection has_symptom fever, and has_symptom headache.

What is AIDS-related oropharyngeal candidiasis?

An oropharyngeal candidiasis that involves fungal infection of the oropharynx by Candida species in AIDS patients.

What is thrombocytopenia?

A blood platelet disease characterized by low a platelet count in the blood.

What is shigellosis?

A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces.

What is adenofibroma?

A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.

What is peanut allergy?

A food allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms.

What is pseudomembranous diphtheritic conjunctivitis?

A pseudomembranous conjunctivitis characterized by swollen and reddened, hot and painful lids. The Corynebacterium diphtheriae bacilli produce profuse exudation which has a tendency to coagulate on the surface of the conjunctiva to form a grayish-white membrane.

What is toxic pneumonitis?

A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects.

What is enteroinvasive Escherichia coli infectious disease?

An Escherichia coli intestinal infectious disease that involves infection of the intestine caused by a serological subgroup of Escherichia coli called enteroinvasive Escherichia coli (EIEC), which penetrate and multiply within epithelial cells of the colon causing cell destruction. They do not produce toxins but they possess a specific adhesin, which is an outer membrane protein. The symptoms include dysentery-like diarrhea with fever.

What is neuroaspergillosis?

An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion.

What is sideroblastic anemia?

An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

What is multiple chemical sensitivity?

A syndrome that is an adverse physical reaction to low levels of many common chemicals.

What is monkeypox?

A viral infectious disease that results_in infection of primates, rodents and humans, located_in skin, has_material_basis_in Monkeypox virus, which is transmitted_by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted_by fomites, and transmitted_by respiratory droplets. The infection has_symptom fever, has_symptom muscle ache, has_symptom headache, and has_symptom lymphadenopathy.

What is antidepressant type abuse?

A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences.

What is parasitic Ichthyosporea infectious disease?

A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals.

What is larynx leiomyosarcoma?

A larynx sarcoma that is a smooth muscle connective tissue tymor located_in the larynx.

What is bradyopsia?

A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions; can be caused by mutations in the RGS9 or the R9AP genes.

What is early congenital syphilis?

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.

What is acrofacial dysostosis Cincinnati type?

An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is caused by heterozygous mutation in the POLR1A gene located in chromosome 2p11.

What is succinic semialdehyde dehydrogenase deficiency?

A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.

What is Parkinson's disease?

A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.

What is green mud crab allergy?

A crustacean allergy triggered by Scylla paramamosain.

What is goat milk allergy?

A milk allergy triggered by Capra hircus milk.

What is Mumps virus polyneuritis?

A Mumps virus infectious disease that results_in inflammation located_in peripheral nerves, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom pins-and-needles sensation, has_symptom weakness, and has_symptom numbness.

What is Herpes simplex virus iridocyclitis?

A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision.

What is eosinophilic pneumonia?

A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night.

What is sleep disorder?

A disease of mental health that involves disruption of sleep patterns.