databio/diseases-msmarco · Datasets at Hugging Face

anchor stringlengths 13 90	positive stringlengths 1 953
What is blue cone monochromacy?	An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.
What is aorta atresia?	An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
What is ornithine carbamoyltransferase deficiency?	An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.
What is perichondritis of auricle?	A otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.
What is newborn respiratory distress syndrome?	A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.
What is larynx liposarcoma?	A liposarcoma that is located_in the larynx.
What is retroperitoneal sarcoma?	A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.
What is colon sarcoma?	A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon.
What is Buruli ulcer disease?	A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.
What is female reproductive organ cancer?	A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.
What is Charcot-Marie-Tooth disease type 2?	A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
What is cyclosporiasis?	A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue.
What is mature T-cell and NK-cell lymphoma?	A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.
What is liver fibrosarcoma?	A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver.
What is cutaneous basidiomycota mycosis?	A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members.
What is acanthocephaliasis?	A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.
What is skin melanoma?	A skin cancer that has_material_basis_in melanocytes.
What is Epstein-Barr virus encephalitis?	An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.
What is EAST syndrome?	A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.
What is breast fibroadenoma?	A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
What is oculoauricular syndrome?	A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.
What is esophagus squamous cell carcinoma?	An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.
What is substance abuse?	A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.
What is toxic labyrinthitis?	A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.
What is diabetes mellitus?	A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
What is Albright's hereditary osteodystrophy?	An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.
What is extraskeletal myxoid chondrosarcoma?	An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix.
What is malignant mediastinal neurogenic neoplasm?	A mediastinal cancer that has_material_basis_in neural cells.
What is epididymis adenocarcinoma?	An epididymis cancer that derives_from epithelial cells of glandular origin.
What is basal cell carcinoma?	A skin carcinoma affecting basal cells.
What is Legg-Calve-Perthes Disease?	An osteochondrosis that results_in death and fracture located_in hip joint.
What is akinetic mutism?	A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.
What is Scheuermann's disease?	An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.
What is atrial fibrillation?	A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
What is Partington syndrome?	A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.
What is idiopathic CD4-positive T-lymphocytopenia?	A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.
What is sleep apnea?	A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
What is Ebola hemorrhagic fever?	A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.
What is Kleefstra syndrome?	A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.
What is cough variant asthma?	An asthma that is characterized by chronic nonproductive cough without shortness of breath.
What is mandibulofacial dysostosis with alopecia?	A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
What is Acanthocephala infectious disease?	A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host.
What is relapsing-remitting multiple sclerosis?	A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.
What is aortic valve insufficiency?	An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
What is bipolar ll disorder?	A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
What is agoraphobia?	A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
What is cervical squamous cell carcinoma?	A cervix carcinoma that has_material_basis_in squamous cells of the cervix.
What is peripheral nervous system neoplasm?	A nervous system cancer that is located_in the peripheral nervous system.
What is leukodystrophy?	A cerebral degeneration characterized by dysfunction of the white matter of the brain.
What is adrenal cortical adenocarcinoma?	An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.
What is pleuropulmonary blastoma?	A pulmonary blastoma that derives_from the lung or pleural cavity.
What is rhizomelic chondrodysplasia punctata?	A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.
What is infancy electroclinical syndrome?	An electroclinical syndrome with onset in infancy occurring between birth and one year of age.
What is Henipavirus infectious disease?	A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal.
What is Hepeviridae infectious disease?	A (+)ssRNA virus infectious disease that results_in infection in animals and humans, located_in liver, has_material_basis_in Hepeviridae viruses.
What is ankylosing spondylitis?	A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.
What is Crimean-Congo hemorrhagic fever?	A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.
What is pediatric Intraocular retinoblastoma?	An intraocular retinoblastoma that effects children.
What is blepharoconjunctivitis?	A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.
What is histidine metabolism disease?	An amino acid metabolic disorder that involves deficiency in histidine.
What is hereditary spherocytosis?	A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
What is choroid plexus carcinoma?	A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.
What is geographic tongue?	An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.
What is pulmonary blastoma?	An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children.
What is 46 XY gonadal dysgenesis?	A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.
What is Toxoplasma pneumonia?	A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales.
What is Vibrio cholerae O1 biovar El Tor cholera?	A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor.
What is blue drum syndrome?	A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.
What is acute hemorrhagic leukoencephalitis?	A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.
What is otitis interna?	A otitis which involves inflammation of the inner ear.
What is Cauda equina syndrome?	A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.
What is AIDS-related Pneumocystis jirovecii pneumonia?	A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV.
What is embryonal carcinoma?	An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.
What is exophthalmos?	An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
What is urethra transitional cell carcinoma?	An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.
What is Hepacivirus infectious disease?	A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.
What is acute sphenoidal sinusitis?	A sphenoid sinusitis which lasts for less than 4 weeks.
What is Weill-Marchesani syndrome?	An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
What is Kartagener syndrome?	A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia.
What is splenic manifestation of leukemia?	A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia.
What is tuberculous lung fibrosis?	A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred).
What is ainhum?	A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.
What is lymphocutaneous sporotrichosis?	A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.
What is corpus callosum oligodendroglioma?	A brain oligodendroglioma located_in the corpus callosum.
What is alveolar soft part sarcoma?	A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
What is non-suppurative otitis media and eustachian tube disorder?	A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed.
What is expressive language disorder?	A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.
What is ovarian germ cell cancer?	An ovarian cancer that originates in the germ (egg) cells of the ovary.
What is central nervous system hematologic cancer?	A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.
What is monogenic disease?	A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
What is malignant ependymoma?	A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain.
What is pelvic cancer?	A malignant neoplasm that is manifested in the pelvic region.
What is disease by environmental exposure?	A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents.
What is autoimmune thyroiditis?	An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.
What is chronic purulent otitis media?	A suppurative otitis media which is persistent and long-lasting.
What is connective tissue benign neoplasm?	A musculoskeletal system benign neoplasm that is located_in connective tissue.
What is keratinizing squamous cell carcinoma?	A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.
What is white shrimp allergy?	A crustacean allergy triggered by Litopenaeus vannamei.
What is O'nyong'nyong fever?	A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.
What is dysostosis?	A bone development disease that results_in defective ossification of located_in bone.

What is blue cone monochromacy?

An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.

What is aorta atresia?

An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.

What is ornithine carbamoyltransferase deficiency?

An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase.

What is perichondritis of auricle?

A otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.

What is newborn respiratory distress syndrome?

A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.

What is larynx liposarcoma?

A liposarcoma that is located_in the larynx.

What is retroperitoneal sarcoma?

A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space.

What is colon sarcoma?

A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon.

What is Buruli ulcer disease?

A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin.

What is female reproductive organ cancer?

A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva.

What is Charcot-Marie-Tooth disease type 2?

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

What is cyclosporiasis?

A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue.

What is mature T-cell and NK-cell lymphoma?

A non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.

What is liver fibrosarcoma?

A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver.

What is cutaneous basidiomycota mycosis?

A cutaneous mycosis that results_in fungal infection located_in skin, located_in hair and located_in nail, has_material_basis_in Basidiomycota phylum members.

What is acanthocephaliasis?

A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools.

What is skin melanoma?

A skin cancer that has_material_basis_in melanocytes.

What is Epstein-Barr virus encephalitis?

An Epstein-Barr virus infectious disease that results_in inflammation, located_in brain, has_material_basis_in Human herpesvirus 4 and has_symptom seizures, has_symptom altered consciousness, and has_symptom cerebellar ataxia.

What is EAST syndrome?

A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It is caused by homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23.

What is breast fibroadenoma?

A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.

What is oculoauricular syndrome?

A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule.

What is esophagus squamous cell carcinoma?

An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.

What is substance abuse?

A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.

What is toxic labyrinthitis?

A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic.

What is diabetes mellitus?

A glucose metabolism disease characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.

What is Albright's hereditary osteodystrophy?

An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face.

What is extraskeletal myxoid chondrosarcoma?

An extraosseous chondrosarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage and is characterized by a marked abundance of extracellular mucoid (myxoid) matrix.

What is malignant mediastinal neurogenic neoplasm?

A mediastinal cancer that has_material_basis_in neural cells.

What is epididymis adenocarcinoma?

An epididymis cancer that derives_from epithelial cells of glandular origin.

What is basal cell carcinoma?

A skin carcinoma affecting basal cells.

What is Legg-Calve-Perthes Disease?

An osteochondrosis that results_in death and fracture located_in hip joint.

What is akinetic mutism?

A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness.

What is Scheuermann's disease?

An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column.

What is atrial fibrillation?

A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.

What is Partington syndrome?

A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria.

What is idiopathic CD4-positive T-lymphocytopenia?

A lymphopenia that is caused by a reduction of CD4+ T lymphocytes.

What is sleep apnea?

A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.

What is Ebola hemorrhagic fever?

A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.

What is Kleefstra syndrome?

A syndrome characterized by childhood hypotonia, a distinctive facial appearance, speech impediments and developmental disability, as well as epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. It is caused either by a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.

What is cough variant asthma?

An asthma that is characterized by chronic nonproductive cough without shortness of breath.

What is mandibulofacial dysostosis with alopecia?

A syndrome characterized_by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.

What is Acanthocephala infectious disease?

A Pseudocoelomata infectious disease that involves infection by parasitic worms known as thorny-headed worms, characterized by the presence of an evertable proboscis, armed with spines, which is used to pierce and hold the gut wall of the host.

What is relapsing-remitting multiple sclerosis?

A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.

What is aortic valve insufficiency?

An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.

What is bipolar ll disorder?

A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.

What is agoraphobia?

A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.

What is cervical squamous cell carcinoma?

A cervix carcinoma that has_material_basis_in squamous cells of the cervix.

What is peripheral nervous system neoplasm?

A nervous system cancer that is located_in the peripheral nervous system.

What is leukodystrophy?

A cerebral degeneration characterized by dysfunction of the white matter of the brain.

What is adrenal cortical adenocarcinoma?

An adrenalcortical carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin.

What is pleuropulmonary blastoma?

A pulmonary blastoma that derives_from the lung or pleural cavity.

What is rhizomelic chondrodysplasia punctata?

A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has_material_basis_in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) gene.

What is infancy electroclinical syndrome?

An electroclinical syndrome with onset in infancy occurring between birth and one year of age.

What is Henipavirus infectious disease?

A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal.

What is Hepeviridae infectious disease?

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

What is ankylosing spondylitis?

A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.

What is Crimean-Congo hemorrhagic fever?

A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.

What is pediatric Intraocular retinoblastoma?

An intraocular retinoblastoma that effects children.

What is blepharoconjunctivitis?

A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis.

What is histidine metabolism disease?

An amino acid metabolic disorder that involves deficiency in histidine.

What is hereditary spherocytosis?

A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.

What is choroid plexus carcinoma?

A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus.

What is geographic tongue?

An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.

What is pulmonary blastoma?

An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children.

What is 46 XY gonadal dysgenesis?

A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo.

What is Toxoplasma pneumonia?

A toxoplasmosis that is caused by the protozoan Toxoplasma gondii which is recognized as pathogen in immunocompromised patients. Microscopy of the lung shows fibrinous exudate, and necrotic areas with intra and extracellular tachizoites along the interstitium and alveolar spaces. The symptoms are cough, shortness of breath, high fever and rales.

What is Vibrio cholerae O1 biovar El Tor cholera?

A cholera that involves infection of the intestine caused by Vibrio cholerae serogroup O1 biovar El Tor.

What is blue drum syndrome?

A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.

What is acute hemorrhagic leukoencephalitis?

A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema.

What is otitis interna?

A otitis which involves inflammation of the inner ear.

What is Cauda equina syndrome?

A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord.

What is AIDS-related Pneumocystis jirovecii pneumonia?

A Pneumocystis jirovecii pneumonia that is_a disease associated with AIDS has_material_basis_in Pneumocystis jirovecii located_in lungs affecting individuals with HIV.

What is embryonal carcinoma?

An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes.

What is exophthalmos?

An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.

What is urethra transitional cell carcinoma?

An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter.

What is Hepacivirus infectious disease?

A Flaviviridae infectious disease that results_in infection, has_material_basis_in Hepacivirus, which is transmitted_by sexual contact, or transmitted_by blood transfusion.

What is acute sphenoidal sinusitis?

A sphenoid sinusitis which lasts for less than 4 weeks.

What is Weill-Marchesani syndrome?

An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.

What is Kartagener syndrome?

A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia.

What is splenic manifestation of leukemia?

A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia.

What is tuberculous lung fibrosis?

A pulmonary tuberculosis in which tissue deep in the lungs becomes thick and stiff (scarred).

What is ainhum?

A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.

What is lymphocutaneous sporotrichosis?

A primary systemic mycosis that results_in fungal infection located_in skin and located_in subcutaneous tissue, and located_in lymphatic vessel through direct inoculation from wood splinters or hay, has_material_basis_in Sporothrix schenckii, a dimorphic fungus, which results_in_formation_of erythematous papulonodular lesions at the site of implantation and along the lymphangitic channels which soon become palpable and ulcerate.

What is corpus callosum oligodendroglioma?

A brain oligodendroglioma located_in the corpus callosum.

What is alveolar soft part sarcoma?

A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.

What is non-suppurative otitis media and eustachian tube disorder?

A non-suppurative otitis media which involves obstruction of the collecting lymphatic tubules of the middle ear and eustachian tube as they drain to the retropharyngeal lymphatics. Retraction of the tympanic membrane is also observed.

What is expressive language disorder?

A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits.

What is ovarian germ cell cancer?

An ovarian cancer that originates in the germ (egg) cells of the ovary.

What is central nervous system hematologic cancer?

A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system.

What is monogenic disease?

A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).

What is malignant ependymoma?

A malignant glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain.

What is pelvic cancer?

A malignant neoplasm that is manifested in the pelvic region.

What is disease by environmental exposure?

A disease that has an etiology of chemical exposure or exposure to other environmental factors excluding infectious agents.

What is autoimmune thyroiditis?

An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.

What is chronic purulent otitis media?

A suppurative otitis media which is persistent and long-lasting.

What is connective tissue benign neoplasm?

A musculoskeletal system benign neoplasm that is located_in connective tissue.

What is keratinizing squamous cell carcinoma?

A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris.

What is white shrimp allergy?

A crustacean allergy triggered by Litopenaeus vannamei.

What is O'nyong'nyong fever?

A viral infectious disease that results_in infection located_in joint, has_material_basis_in O'nyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis.

What is dysostosis?

A bone development disease that results_in defective ossification of located_in bone.