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What is herpetic vulvovaginitis?
A genital herpes that results_in infection located_in vulva and located_in vagina, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom fever, has_symptom lymphadenopathy, and has_symptom lesions.
What is extrahepatic bile duct leiomyosarcoma?
A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver.
What is Crigler-Najjar syndrome?
A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
What is septic arthritis?
An arthritis that involves infection by a pathogen located_in joint.
What is lymph node cancer?
A lymphatic system cancer that is located_in the lymph node.
What is IgA glomerulonephritis?
A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
What is degenerative disc disease?
A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
What is Japanese encephalitis?
A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.
What is tinea barbae?
A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules.
What is schistosomiasis?
A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.
What is postural kyphosis?
A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra.
What is central nervous system angiosarcoma?
A central nervous system sarcoma that is located_in the inner lining of blood vessels.
What is Omenn syndrome?
A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.
What is African tick-bite fever?
A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash.
What is diphtheritic peritonitis?
A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae.
What is hemorrhoid?
A pelvic varix disease characterized by swollen, inflamed veins around the anus or lower rectum.
What is alcohol-related birth defect?
A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure.
What is adrenoleukodystrophy?
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
What is hypermethioninemia?
An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.
What is multiple epiphyseal dysplasia?
An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain.
What is cerebrum cancer?
A supratentorial cancer that is located_in the cerebrum.
What is nervous system disease?
A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
What is CLL/SLL?
A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes.
What is Burkitt lymphoma?
A mature B-cell neoplasm of B-cells found in the germinal center.
What is sarcoma?
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
What is myiasis?
A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue.
What is sarcoidosis?
A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
What is Meige syndrome?
A cranio-facial dystonia that is accompanied by blepharospasm.
What is MASA syndrome?
A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
What is hepatocellular carcinoma?
A liver carcinoma that has_material_basis_in undifferentiated hepatocytes.
What is opportunistic basidiomycota mycosis?
An opportunistic mycosis that results_in fungal infection located_in human body, has_material_basis_in Basidiomycota phylum members.
What is Stachybotrys infectious disease?
A primary systemic mycosis that results_in systemic fungal infection in animals and humans, has_material_basis_in Stachybotrys chartarum, transmitted_by airborne spores and transmitted_by vehicle-borne ingestion and the fungus produces trichothecene mycotoxins including satratoxins causing pulmonary hemorrhage in infants.
What is chickenpox?
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.
What is extra-adrenal pheochromocytoma?
An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
What is anal fistula?
An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
What is germ cell cancer?
A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from germ cells.
What is motor neuron disease?
A neurodegenerative disease that is located_in the motor neurones.
What is aorta angiosarcoma?
An angiosarcoma that is located_in the aorta.
What is papillary carcinoma?
A carcinoma that is derived_from epithelial cells with finger like projections.
What is sublingual gland cancer?
A salivary gland cancer that is located_in the sublingual gland.
What is parotid gland cancer?
A salivary gland cancer that is located_in the parotid gland.
What is spinal stenosis?
A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
What is autoimmune neuropathy?
An autoimmune disease of centreal nervous system caused by an autoimmune response.
What is Timothy syndrome?
An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C.
What is Alkhurma hemorrhagic fever?
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever.
What is Marshall-Smith syndrome?
A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
What is marantic endocarditis?
An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
What is Ohtahara syndrome?
A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
What is lipid metabolism disorder?
An inherited metabolic disorder that involves the creation and degradation of lipids.
What is hymenolepiasis?
A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness.
What is agraphia?
An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
What is urinary system benign neoplasm?
An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
What is endometriosis?
A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.
What is separation anxiety disorder?
An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place.
What is coronavirus infectious disease?
A Coronaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in coronaviruses, which are transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.
What is pancreatic acinar cell adenocarcinoma?
A pancreas adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase.
What is oculocutaneous albinism?
An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes.
What is hereditary ataxia?
A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
What is mitochondrial complex V (ATP synthase) deficiency nuclear type 3?
A mitochondrial metabolism disease that has material basis in mutation in the ATP5E gene on chromosome 20q13.
What is Gerstmann-Straussler-Scheinker syndrome?
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
What is Achard syndrome?
A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet.
What is Trichomonas vaginalis trichomoniasis?
A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge.
What is paranoid personality disorder?
A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others.
What is superficial mycosis?
A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host.
What is alternating hemiplegia of childhood?
A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.
What is Venezuelan equine encephalitis?
A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region.
What is smallpox?
A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk.
What is congenital disorder of glycosylation type II?
A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain.
What is pleural cancer?
A connective tissue cancer that located_in the pleura.
What is aceruloplasminemia?
An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
What is portal vein thrombosis?
A vein disease that is characterized by a blood clot that forms within the hepatic portal vein.
What is prostate adenocarcinoma?
A prostate carcinoma that derives_from epithelial cells of glandular origin.
What is thyroid medullary carcinoma?
A follicular thyroid carcinoma that has_material_basis_in parafollicular cells.
What is beta thalassemia?
A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
What is Argentine hemorrhagic fever?
A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations.
What is common variable immunodeficiency?
A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
What is necatoriasis?
A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching.
What is homocarnosinosis?
A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
What is post-traumatic stress disorder?
An anxiety disorder which results from a traumatic experience that results in psychological trauma.
What is nervous system benign neoplasm?
An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
What is gallbladder adenocarcinoma?
A gallbladder carcinoma that derives_from epithelial cells of glandular origin.
What is rete testis adenocarcinoma?
A rete testis neoplasm that derives_from epithelial cells of glandular origin.
What is Saffold virus gastroenteritis?
A viral infectious disease that results_in inflammation located_in stomach and located_in intestine, has_material_basis_in Saffold virus, which is transmitted_by ingestion of food contaminated with feces. The infection has_symptom watery diarrhea, has_symptom fever, has_symptom nausea, and has_symptom vomiting.
What is 3MC syndrome?
A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
What is cystadenoma?
An adenoma that is a cystic.
What is severe pre-eclampsia?
A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption.
What is mitochondrial complex V (ATP synthase) deficiency nuclear type 2?
A mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21.
What is hypopituitarism?
A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
What is autoimmune disease of musculoskeletal system?
An autoimmune 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 musculoskeletal system.
What is myelophthisic anemia?
A myeloma and anemia that is located_in some people with diseases that affect the bone marrow.
What is renal carcinoma?
A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products).
What is intestinal tuberculosis?
A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting.
What is Herpes simplex virus septicemia?
A Simplexvirus infectious disease that results in inflammatory response by the immune system of the body to Human herpesvirus 1 or Human herpesvirus 2 in the blood, urine, lungs, skin, or other tissues. The symptoms include fever, chills, rapid breathing, and rapid heart rate.
What is adrenal cortical adenoma?
An adrenal adenoma that is a benign tumor of the adrenal cortex.
What is filariasis?
A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
What is Arterivirus infectious disease?
A Arteriviridae infectious disease that results_in infection in animals, has_material_basis_in Arterivirus.
What is leukopenia?
A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
What is metagonimiasis?
A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected.
What is intellectual disability?
A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.
What is dysgerminoma of ovary?
A dysgerminoma that is located_in the ovary.