diff --git "a/task46_do_entity_explanation.json" "b/task46_do_entity_explanation.json" new file mode 100644--- /dev/null +++ "b/task46_do_entity_explanation.json" @@ -0,0 +1,40150 @@ +{ + "Contributors": [ + "Disease_Oncology~(DO) authors" + ], + "Source": [ + "DO" + ], + "URL": [ + "https://github.com/DiseaseOntology/HumanDiseaseOntology" + ], + "Reasoning": [], + "Input_language": [ + "English" + ], + "Output_language": [ + "English" + ], + "Instruction_language": [ + "English" + ], + "Domains": [ + "Medical Knowledge" + ], + "Positive Examples": [], + "Negative Examples": [], + "Instances": [ + { + "input": "angiosarcoma", + "output": "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels." + }, + { + "input": "pterygium", + "output": "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation." + }, + { + "input": "disease of metabolism", + "output": "A disease that involving errors in metabolic processes of building or degradation of molecules." + }, + { + "input": "shrimp allergy", + "output": "A crustacean allergy that has_allergic_trigger shrimp." + }, + { + "input": "aspirin allergy", + "output": "A drug allergy that has_allergic_trigger acetylsalicylic acid." + }, + { + "input": "benzylpenicillin allergy", + "output": "A beta-lactam allergy that has_allergic_trigger benzylpenicillin." + }, + { + "input": "amoxicillin allergy", + "output": "A beta-lactam allergy that has_allergic_trigger amoxicillin." + }, + { + "input": "ceftriaxone allergy", + "output": "A cephalosporin allergy that has_allergic_trigger ceftriaxone." + }, + { + "input": "carbamazepine allergy", + "output": "A drug allergy that has_allergic_trigger carbamazepine." + }, + { + "input": "abacavir allergy", + "output": "A drug allergy that has_allergic_trigger abacavir." + }, + { + "input": "isoniazide allergy", + "output": "A drug allergy that has_allergic_trigger isoniazide." + }, + { + "input": "lidocaine allergy", + "output": "A drug allergy that has_allergic_trigger lidocaine." + }, + { + "input": "mepivacaine allergy", + "output": "A drug allergy that has_allergic_trigger mepivacaine." + }, + { + "input": "phenobarbital allergy", + "output": "A drug allergy that has_allergic_trigger phenobarbital." + }, + { + "input": "phenytoin allergy", + "output": "A drug allergy that has_allergic_trigger phenytoin." + }, + { + "input": "ranitidine allergy", + "output": "A drug allergy that has_allergic_trigger ranitidine." + }, + { + "input": "corticosteroid allergy", + "output": "A drug allergy that has_allergic_trigger corticosteroid." + }, + { + "input": "sulfonamide allergy", + "output": "A drug allergy that has_allergic_trigger sulfonamide." + }, + { + "input": "sulfamethoxazole allergy", + "output": "A drug allergy that has_allergic_trigger sulfamethoxazole." + }, + { + "input": "suprofen allergy", + "output": "A drug allergy that has_allergic_trigger suprofen." + }, + { + "input": "thiopental allergy", + "output": "A drug allergy that has_allergic_trigger thiopental." + }, + { + "input": "d-mannitol allergy", + "output": "A drug allergy that has_allergic_trigger d-mannitol." + }, + { + "input": "cefotaxime allergy", + "output": "A cephalosporin allergy that has_allergic_trigger cefotaxime." + }, + { + "input": "cephalosporin allergy", + "output": "A drug allergy that has_allergic_trigger cephalosporin." + }, + { + "input": "amodiaquine allergy", + "output": "A drug allergy that has_allergic_trigger amodiaquine." + }, + { + "input": "cefaclor allergy", + "output": "A cephalosporin allergy that has_allergic_trigger cefaclor." + }, + { + "input": "ceftazidime allergy", + "output": "A cephalosporin allergy that has_allergic_trigger ceftazidime." + }, + { + "input": "cefuroxime allergy", + "output": "A cephalosporin allergy that has_allergic_trigger cefuroxime." + }, + { + "input": "chlorhexidine allergy", + "output": "A drug allergy that has_allergic_trigger chlorhexidine." + }, + { + "input": "cyclophosphamide allergy", + "output": "A drug allergy that has_allergic_trigger cyclophosphamide." + }, + { + "input": "succinylcholine allergy", + "output": "A drug allergy that has_allergic_trigger succinylcholine." + }, + { + "input": "trimethoprim allergy", + "output": "A drug allergy that has_allergic_trigger trimethoprim." + }, + { + "input": "cefixime allergy", + "output": "A cephalosporin allergy that has_allergic_trigger cefixime." + }, + { + "input": "diclofenac allergy", + "output": "A drug allergy that has_allergic_trigger diclofenac." + }, + { + "input": "carbapenem allergy", + "output": "A drug allergy that has_allergic_trigger carbapenems." + }, + { + "input": "piperacillin allergy", + "output": "A beta-lactam allergy that has_allergic_trigger piperacillin." + }, + { + "input": "rocuronium allergy", + "output": "A drug allergy that has_allergic_trigger rocuronium." + }, + { + "input": "sulfasalazine allergy", + "output": "A drug allergy that has_allergic_trigger sulfasalazine." + }, + { + "input": "tubocurarine allergy", + "output": "A drug allergy that has_allergic_trigger tubocurarine." + }, + { + "input": "aztreonam allergy", + "output": "A beta-lactam allergy that has_allergic_trigger aztreonam." + }, + { + "input": "meropenem allergy", + "output": "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic." + }, + { + "input": "hexamethylene diisocyanate allergic asthma", + "output": "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate." + }, + { + "input": "isocyanates allergic asthma", + "output": "An allergic asthma that has_allergic_trigger isocyanates." + }, + { + "input": "diphenylmethane-4,4'-diisocyanate allergic asthma", + "output": "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate." + }, + { + "input": "toluene meta-diisocyanate allergic asthma", + "output": "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate." + }, + { + "input": "methyl isocyanate allergic asthma", + "output": "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate." + }, + { + "input": "nickel allergic asthma", + "output": "An allergic asthma that has_allergic_trigger nickel atom." + }, + { + "input": "nickel allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger nickel atom." + }, + { + "input": "trimellitic anhydride allergic asthma", + "output": "An allergic asthma that has_allergic_trigger trimellitic anhydride." + }, + { + "input": "phthalic anhydride allergic asthma", + "output": "An allergic asthma that has_allergic_trigger phthalic anhydride." + }, + { + "input": "maleic anhydride allergic asthma", + "output": "An allergic asthma that has_allergic_trigger maleic anhydride." + }, + { + "input": "tetrachlorophthalic anhydride allergic asthma", + "output": "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride." + }, + { + "input": "hexahydrophthalic anhydride allergic asthma", + "output": "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride." + }, + { + "input": "diphenylmethane-4,4'-diisocyanate allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate." + }, + { + "input": "cobalt allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger cobalt atom." + }, + { + "input": "cobalt allergic asthma", + "output": "An allergic asthma that has_allergic_trigger cobalt atom." + }, + { + "input": "palladium allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger palladium." + }, + { + "input": "chromium allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger chromium atom." + }, + { + "input": "benzoic acid allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger benzoic acid." + }, + { + "input": "1,4-phenylenediamine allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine." + }, + { + "input": "potassium dichromate allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger potassium dichromate." + }, + { + "input": "ketoprofen photoallergic dermatitis", + "output": "A photoallergic dermatitis that has_allergic_trigger ketoprofen." + }, + { + "input": "remazole black respiratory allergy", + "output": "A respiratory allergy that has_allergic_trigger remazole black-gr." + }, + { + "input": "chloramine t respiratory allergy", + "output": "A respiratory allergy that has_allergic_trigger chloramine t." + }, + { + "input": "4-vinylcyclohexene dioxide respiratory allergy", + "output": "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide." + }, + { + "input": "carvone allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger (-)-carvone." + }, + { + "input": "quinidine allergy", + "output": "A drug allergy that has_allergic_trigger quinidine." + }, + { + "input": "melphalan allergy", + "output": "A drug allergy that has_allergic_trigger melphalan." + }, + { + "input": "neomycin sulfate allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate." + }, + { + "input": "4-tert-butylphenol allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol." + }, + { + "input": "1-chloro-2,4-dinitrobenzene allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene." + }, + { + "input": "co-trimoxazole allergy", + "output": "A drug allergy that has_allergic_trigger co-trimoxazole." + }, + { + "input": "sodium aurothiomalate allergy", + "output": "A drug allergy that has_allergic_trigger sodium aurothiomalate." + }, + { + "input": "parthenolide allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger parthenolide." + }, + { + "input": "disodium cromoglycate allergy", + "output": "A drug allergy that has_allergic_trigger disodium cromoglycate." + }, + { + "input": "formaldehyde allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger formaldehyde." + }, + { + "input": "benzo[d]isothiazol-3-one allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one." + }, + { + "input": "phthalyl group allergy", + "output": "A drug allergy that has_allergic_trigger phthalyl group." + }, + { + "input": "alcuronium bromide allergy", + "output": "A drug allergy that has_allergic_trigger alcuronium bromide." + }, + { + "input": "gallamine allergy", + "output": "A drug allergy that has_allergic_trigger gallamine." + }, + { + "input": "2,4-dinitrophenyl allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group." + }, + { + "input": "patent blue v allergy", + "output": "A drug allergy that has_allergic_trigger patent blue v." + }, + { + "input": "acid anhydride respiratory allergy", + "output": "A respiratory allergy that has_allergic_trigger acid anhydride." + }, + { + "input": "oxirane allergy", + "output": "A drug allergy that has_allergic_trigger oxirane." + }, + { + "input": "chlamydia pneumonia", + "output": "A bacterial pneumonia has_material_basis_in chlamydia pneumoniae." + }, + { + "input": "streptococcus pneumonia", + "output": "A bacterial pneumonia has_material_basis_in streptococcus pneumoniae." + }, + { + "input": "bacterial sepsis", + "output": "A bacterial infectious disease has_material_basis_in bacteria." + }, + { + "input": "polyomavirus-associated nephropathy", + "output": "A viral infectious disease has_material_basis_in bk polyomavirus." + }, + { + "input": "autoimmune peripheral neuropathy", + "output": "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy." + }, + { + "input": "autoimmune uveitis", + "output": "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea." + }, + { + "input": "autoimmune optic neuritis", + "output": "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain." + }, + { + "input": "autoimmune gastritis", + "output": "An autoimmune disease of gastrointestinal tract that is located_in the stomach." + }, + { + "input": "autoimmune pancreatitis", + "output": "An autoimmune disease of endocrine system that is located_in the pancreas." + }, + { + "input": "juvenile ankylosing spondylitis", + "output": "An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood." + }, + { + "input": "drug-induced lupus erythematosus", + "output": "A lupus erythematosus caused by chronic use of certain drugs." + }, + { + "input": "autoimmune glomerulonephritis", + "output": "An autoimmune disease of urogenital tract that is located_in the renal glomerulus." + }, + { + "input": "autoimmune cardiomyopathy", + "output": "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle." + }, + { + "input": "autoimmune atherosclerosis", + "output": "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries." + }, + { + "input": "autoimmune vasculitis", + "output": "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels." + }, + { + "input": "pemphigus gestationis", + "output": "A pemphigus that is characterized by blistered skin as a result of self-reactive t and b cells that target bp180." + }, + { + "input": "livedoid vasculitis", + "output": "A vasculitis with purpuric ulcers." + }, + { + "input": "hirata disease", + "output": "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin." + }, + { + "input": "n,n'-diphenylthiourea allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger n,n-diphenylthiourea." + }, + { + "input": "n,n'-diethylthiourea allergic contact dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger n,n-diethylthiourea." + }, + { + "input": "cefotiam allergy", + "output": "A cephalosporin allergy that has_allergic_trigger cefotiam." + }, + { + "input": "toluene 2,4-diisocyanate allergic asthma", + "output": "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate." + }, + { + "input": "seminal vesicle acute gonorrhea", + "output": "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by neisseria gonorrhoeae infection." + }, + { + "input": "chikungunya", + "output": "A viral infectious disease that results_in infection located_in joint, has_material_basis_in chikungunya virus, which is transmitted_by aedes mosquito bite. the infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash." + }, + { + "input": "human granulocytic anaplasmosis", + "output": "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in anaplasma phagocytophilum, which is transmitted by lone star tick (amblyomma americanum). the infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash." + }, + { + "input": "human monocytic ehrlichiosis", + "output": "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in ehrlichia chaffeensis, which is transmitted by black-legged tick (ixodes scapularis), transmitted by western black-legged tick (ixodes pacificus) or transmitted by castor bean tick (ixodes ricinus). the infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash." + }, + { + "input": "mineral metabolism disease", + "output": "An acquired metabolic disease that is characterized by abnormal mineral metabolism." + }, + { + "input": "african tick-bite fever", + "output": "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." + }, + { + "input": "astrakhan spotted fever", + "output": "A spotted fever that has_material_basis_in rickettsia conorii subsp caspia, which is transmitted_by ticks (rhipicephalus pumilio and rhipicephalus sanguineus). the infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." + }, + { + "input": "indian tick typhus", + "output": "A spotted fever that has_material_basis_in rickettsia conorii subsp indica, which is transmitted_by ticks (rhipicephalus sanguineus). the infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities." + }, + { + "input": "israeli tick typhus", + "output": "A spotted fever that has_material_basis_in rickettsia conorii subsp israelensis, which is transmitted_by ticks (rhipicephalus sanguineus). the infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities." + }, + { + "input": "far eastern spotted fever", + "output": "A spotted fever that has_material_basis_in rickettsia heilongjiangensis, which is transmitted_by ticks (haemaphysalis concinna). the infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy." + }, + { + "input": "flinders island spotted fever", + "output": "A spotted fever that has_material_basis_in rickettsia honei, which is transmitted_by cayenne ticks (amblyomma cajennense). the infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy." + }, + { + "input": "japanese spotted fever", + "output": "A spotted fever that has_material_basis_in rickettsia japonica, which is transmitted_by ticks (dermacentor taiwanensis and haemaphysalis flava). the infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities." + }, + { + "input": "rickettsia parkeri spotted fever", + "output": "A spotted fever that has_material_basis_in rickettsia parkeri, which is transmitted_by gulf coast tick (amblyomma maculatum). the infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash." + }, + { + "input": "rocky mountain spotted fever", + "output": "A spotted fever that has_material_basis_in rickettsia rickettsii, which is transmitted_by ticks (dermacentor variabilis and dermacentor andersoni). the infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash." + }, + { + "input": "oropharyngeal anthrax", + "output": "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. the infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." + }, + { + "input": "erysipeloid", + "output": "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. the infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin." + }, + { + "input": "adiaspiromycosis", + "output": "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in chrysosporium parvum or emmonsia crescens." + }, + { + "input": "invasive aspergillosis", + "output": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. clinical symptoms include pulmonary nodules and hemorrhage." + }, + { + "input": "keshan disease", + "output": "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency." + }, + { + "input": "tinea barbae", + "output": "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." + }, + { + "input": "ectothrix infectious disease", + "output": "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in microsporum canis, has_material_basis_in microsporum gypseum, has_material_basis_in trichophyton equinum, and has_material_basis_in trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft." + }, + { + "input": "endothrix infectious disease", + "output": "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." + }, + { + "input": "tinea imbricata", + "output": "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition." + }, + { + "input": "disease by infectious agent", + "output": "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions." + }, + { + "input": "la crosse encephalitis", + "output": "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in la crosse virus, which is transmitted_by treehole mosquito, ochlerotatus triseriatus. the infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis." + }, + { + "input": "hemophagocytic lymphohistiocytosis", + "output": "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. it can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. a clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. the morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages." + }, + { + "input": "dengue shock syndrome", + "output": "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in dengue virus [ncbitaxon:12637] with four serotypes (dengue virus 1, 2, 3 and 4), which are transmitted_by aedes mosquito bite. the infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. it is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm hg), or frank shock. the shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth." + }, + { + "input": "sinusitis", + "output": "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." + }, + { + "input": "secretory diarrhea", + "output": "A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. the most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions." + }, + { + "input": "osmotic diarrhea", + "output": "A dirrhea that occurs when too much water is drawn into the bowels. this can be the result of maldigestion (e.g., pancreatic disease or coeliac disease), in which the nutrients are left in the lumen to pull in water. osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). in healthy individuals, too much magnesium or vitamin c or undigested lactose can produce osmotic diarrhea and distention of the bowel. a person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products." + }, + { + "input": "motility-related diarrhea", + "output": "A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). if the food moves too quickly through the gi tract, there is not enough time for sufficient nutrients and water to be absorbed." + }, + { + "input": "inflammatory diarrhea", + "output": "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. it can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. it can also be caused by tuberculosis, colon cancer, and enteritis." + }, + { + "input": "superficial mycosis", + "output": "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." + }, + { + "input": "cutaneous mycosis", + "output": "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in fungi and results_in_formation_of skin lesions." + }, + { + "input": "subcutaneous mycosis", + "output": "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in fungi, which penetrate the dermis or even deeper during or after a skin trauma." + }, + { + "input": "systemic mycosis", + "output": "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs." + }, + { + "input": "podoconiosis", + "output": "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits." + }, + { + "input": "acute diarrhea", + "output": "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide." + }, + { + "input": "intestinal botulism", + "output": "A botulism that involves intoxication caused by botulinum neurotoxins (bonta, b, e and f) in adults, has_material_basis_in clostridium botulinum a, has_material_basis_in clostridium botulinum b, has_material_basis_in clostridium botulinum e and has_material_basis_in clostridium botulinum f, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins." + }, + { + "input": "asymptomatic dengue", + "output": "A dengue disease that results_in infection, has_material_basis_in dengue virus [ncbitaxon:12637] with four serotypes (dengue virus 1, 2, 3 and 4), which are transmitted_by aedes mosquito bite. the infection has no manifestations of symptoms." + }, + { + "input": "kartagener syndrome", + "output": "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development." + }, + { + "input": "adenoiditis", + "output": "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. it occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. the infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing." + }, + { + "input": "otomycosis", + "output": "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. it is characterized by inflammation, pruritus, scaling and severe discomfort. the most common fungi are aspergillus niger and candida albicans." + }, + { + "input": "laryngotracheitis", + "output": "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. the infection can close off the windpipe." + }, + { + "input": "pontiac fever", + "output": "A legionellosis that involves a milder respiratory illness without pneumonia. symptoms include fever, headache and muscle aches which last for 2 to 5 days." + }, + { + "input": "aspiration pneumonia", + "output": "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. it is seen in individuals with dysphagia and gastric dysmotility. the disease has_symptom tachypnea and has_symptom cough." + }, + { + "input": "pulmonary aspergilloma", + "output": "An aspergillosis that presents as a clump of tangled mass of aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring." + }, + { + "input": "sensory system disease", + "output": "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell)." + }, + { + "input": "idiopathic pulmonary fibrosis", + "output": "A pulmonary fibrosis that is characterized by scarring of the lung." + }, + { + "input": "cryptogenic organizing pneumonia", + "output": "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). a flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. frequent presence of crackling sounds (called velcro crackles) when the doctor listens with a stethoscope." + }, + { + "input": "desquamative interstitial pneumonia", + "output": "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation." + }, + { + "input": "lymphoid interstitial pneumonia", + "output": "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with t lymphocytes, plasma cells, and macrophages. lymphoid hyperplasia is frequently seen. onset is often slow with gradually increasing cough and breathlessness over 3 or more years. fever, weight loss, chest pain, and arthralgia are occasionally found. crackles may be detected as the disease progresses." + }, + { + "input": "inhalation anthrax", + "output": "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria bacillus anthracis. the first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches." + }, + { + "input": "lower respiratory tract disease", + "output": "A respiratory system disease which involves the lower respiratory tract." + }, + { + "input": "tuberculous salpingitis", + "output": "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube." + }, + { + "input": "autoimmune polyendocrine syndrome type 1", + "output": "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." + }, + { + "input": "autoimmune polyendocrine syndrome type 2", + "output": "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. it is more heterogeneous and has not been linked to one gene." + }, + { + "input": "cutaneous lupus erythematosus", + "output": "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight." + }, + { + "input": "kunjin encephalitis", + "output": "A west nile encephalitis that results_in infection located_in brain, has_material_basis_in kunjin virus, a subtype of west nile virus, which is transmitted_by culex annulirostris mosquito bite. the infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy." + }, + { + "input": "tick-borne encephalitis", + "output": "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in tick-borne encephalitis virus, which is transmitted_by ixodes ticks. the infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis." + }, + { + "input": "monogenic disease", + "output": "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive." + }, + { + "input": "powassan encephalitis", + "output": "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in powassan virus, which is transmitted_by ixodes and transmitted_by dermacentor species of ticks. the infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma." + }, + { + "input": "erythema multiforme", + "output": "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness." + }, + { + "input": "nipah virus encephalitis", + "output": "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. the infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma." + }, + { + "input": "argentine hemorrhagic fever", + "output": "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." + }, + { + "input": "bolivian hemorrhagic fever", + "output": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in mammarenavirus machupoense, which is transmitted_by vesper mouse, calomys callosus. the infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts." + }, + { + "input": "venezuelan hemorrhagic fever", + "output": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in mammarenavirus guanaritoense, which is transmitted_by cotton rat, sigmodon alstoni or transmitted_by cane mouse, zygodontomys brevicauda. the infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia." + }, + { + "input": "brazilian hemorrhagic fever", + "output": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in mammarenavirus brazilense, which is transmitted by rodents. the infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears." + }, + { + "input": "chapare hemorrhagic fever", + "output": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in mammarenavirus chapareense. the infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding." + }, + { + "input": "whitewater arroyo hemorrhagic fever", + "output": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (neotoma albigula). the infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations." + }, + { + "input": "korean hemorrhagic fever", + "output": "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in hantaan virus, which is transmitted_by the eurasian field mouse, apodemus agrarius, or has_material_basis_in seoul virus, which is transmitted_by norwegian rat, rattus norvegicus. the infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload." + }, + { + "input": "nephropathia epidemica", + "output": "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in orthohantavirus puumalaense, which is transmitted_by bank vole, myodes glareolus [ncbitaxon:447135]. the infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure." + }, + { + "input": "lujo hemorrhagic fever", + "output": "A viral infectious disease that results_in infection, has_material_basis_in lujo virus, which has_symptom bleeding." + }, + { + "input": "epstein-barr virus hepatitis", + "output": "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice." + }, + { + "input": "swine influenza", + "output": "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in influenza c virus, or has_material_basis_in influenza a virus subtypes (h1n1, h1n2, h3n1, h3n2, and h2n3), which are transmitted_by direct contact with infected pigs. the infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea." + }, + { + "input": "lambert-eaton myasthenic syndrome", + "output": "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ach) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (vgcc) on the presynaptic motor nerve terminal." + }, + { + "input": "polycystic echinococcosis", + "output": "An echinococcosis that is caused by the larvae of echinococcus vogeli or echinococcus oligarthrus, which infect the liver." + }, + { + "input": "selective igm deficiency disease", + "output": "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin m (igm) production to roduction of other antibodies." + }, + { + "input": "primary amebic meningoencephalitis", + "output": "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by naegleria fowleri. the symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma." + }, + { + "input": "granulomatous amebic encephalitis", + "output": "A parasitic protozoa infectious disease that results in infection of the brain caused by acanthamoeba or balamuthia mandrillaris. the symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death." + }, + { + "input": "philophthalmiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by philophthalmus species. external ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction." + }, + { + "input": "coenurosis", + "output": "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of taenia multiceps or taenia serialis. coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. coenuri in the eye cause both intraocular and orbital infections." + }, + { + "input": "mesocestoidiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting." + }, + { + "input": "acanthocephaliasis", + "output": "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." + }, + { + "input": "angiostrongyliasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by angiostrongylus cantonensis or angiostrongylus costaricensis." + }, + { + "input": "baylisascariasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death." + }, + { + "input": "dioctophymiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode dioctophyme renale in humans after eating undercooked food. the larvae are found in the subcutaneous nodules and kidneys." + }, + { + "input": "thelaziasis", + "output": "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode thelazia callipaeda causing varying degrees of inflammation and lacrimation. in heavier infections, photophobia, edema, conjunctivitis, and blindness occurs." + }, + { + "input": "tungiasis", + "output": "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, tunga penetrans in animals and humans. the symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo." + }, + { + "input": "ophthalmomyiasis", + "output": "A myiasis that involves parasitic infestation of oestrus ovis larvae in the eye causing severe irritation, edema, and pain." + }, + { + "input": "trichomonas vaginalis trichomoniasis", + "output": "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." + }, + { + "input": "trichomonas tenax trichomoniasis", + "output": "A trichomoniasis that is caused by a singled-celled protozoan parasite trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx." + }, + { + "input": "basidiobolomycosis", + "output": "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by basidiobolus ranarum. lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated." + }, + { + "input": "conidiobolomycosis", + "output": "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. symptoms include nasal obstruction, drainage and sinus pain. subcutaneous nodules develop in the nasal and perinasal regions." + }, + { + "input": "penicilliosis", + "output": "An opportunistic mycosis that has_material_basis_in penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions." + }, + { + "input": "fusariosis", + "output": "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by fusarium solani or fusarium oxysporum. skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma." + }, + { + "input": "trichosporonosis", + "output": "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body." + }, + { + "input": "parasitic ichthyosporea infectious disease", + "output": "A parasitic infectious disease that involves parasitic infection by the members of the class ichthyosporea, which are parasites of fish and other animals." + }, + { + "input": "primary systemic mycosis", + "output": "A systemic mycosis that results_in infection located_in human body, has_material_basis_in fungi, which can overcome the physiological and cellular defences of the normal human host. the primary deep pathogens usually gain access to the host via the respiratory tract." + }, + { + "input": "aniseikonia", + "output": "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes." + }, + { + "input": "alkhurma hemorrhagic fever", + "output": "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." + }, + { + "input": "congenital hypothyroidism", + "output": "A hypothyroidism that is present at birth." + }, + { + "input": "lacrimoauriculodentodigital syndrome 1", + "output": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the fgfr2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes." + }, + { + "input": "enlarged vestibular aqueduct", + "output": "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts." + }, + { + "input": "bradyopsia", + "output": "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions." + }, + { + "input": "hypophosphatemia", + "output": "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis." + }, + { + "input": "primary bacterial infectious disease", + "output": "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread." + }, + { + "input": "commensal bacterial infectious disease", + "output": "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." + }, + { + "input": "opportunistic bacterial infectious disease", + "output": "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised." + }, + { + "input": "foodborne botulism", + "output": "A botulism that involves intoxication caused by botulinum neurotoxins (bonta, b, e and f), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in clostridium botulinum a, has_material_basis_in clostridium botulinum b, has_material_basis_in clostridium botulinum e and has_material_basis_in clostridium botulinum f. the infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis." + }, + { + "input": "wound botulism", + "output": "A botulism that involves intoxication caused by botulinum neurotoxins (bonta, b, e and f), has_material_basis_in clostridium botulinum a, has_material_basis_in clostridium botulinum b, has_material_basis_in clostridium botulinum e and has_material_basis_in clostridium botulinum f, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins." + }, + { + "input": "infant botulism", + "output": "A botulism that involves intoxication caused by botulinum neurotoxins (bonta or b) in infants, has_material_basis_in clostridium botulinum a or has_material_basis_in clostridium botulinum b, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. the infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness." + }, + { + "input": "glandular tularemia", + "output": "A tularemia that results_in swelling of regional lymph glands." + }, + { + "input": "typhoidal tularemia", + "output": "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss." + }, + { + "input": "nonpapillary renal cell carcinoma", + "output": "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences." + }, + { + "input": "carrion's disease", + "output": "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in bartonella bacilliformis, which is transmitted_by sandflies of genus lutzomyia. the infection has acute and chronic phases. the acute phase is characterized by severe hemolytic anemia and transient immunosuppression. the chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed." + }, + { + "input": "complement factor i deficiency", + "output": "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency." + }, + { + "input": "familial adenomatous polyposis", + "output": "An intestinal disease that has_material_basis_in mutations in the apc gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer." + }, + { + "input": "restless legs syndrome", + "output": "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them." + }, + { + "input": "stevens-johnson syndrome", + "output": "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. the disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection." + }, + { + "input": "xeroderma pigmentosum", + "output": "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of dna repair." + }, + { + "input": "nonepidermolytic palmoplantar keratoderma", + "output": "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles." + }, + { + "input": "hailey-hailey disease", + "output": "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the atp2c1 gene that result in loss of adhesion within the skin." + }, + { + "input": "multiple endocrine neoplasia type 2a", + "output": "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis." + }, + { + "input": "arrhythmogenic right ventricular cardiomyopathy", + "output": "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle." + }, + { + "input": "asperger syndrome", + "output": "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. it differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development." + }, + { + "input": "fatal familial insomnia", + "output": "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain." + }, + { + "input": "andersen-tawil syndrome", + "output": "A long qt syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the kcnj2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly." + }, + { + "input": "mulibrey nanism", + "output": "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the trim37 gene." + }, + { + "input": "danon disease", + "output": "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the lamp2 gene." + }, + { + "input": "frasier syndrome", + "output": "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the wt1 gene." + }, + { + "input": "usher syndrome", + "output": "A syndrome characterized by a combination of hearing loss and visual impairment." + }, + { + "input": "familial partial lipodystrophy", + "output": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life." + }, + { + "input": "mucosulfatidosis", + "output": "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the sumf1 gene that results in deficiency in multiple sulfatase enzymes." + }, + { + "input": "infantile refsum disease", + "output": "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the pex genes." + }, + { + "input": "x-linked dominant hypophosphatemic rickets", + "output": "A rickets has_material_basis_in x-linked mutations in the phex gene that lead to increased circulating levels of fgf-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization." + }, + { + "input": "white sponge nevus", + "output": "A skin disease characterized by a defect in the normal process of keratinization of the mucosa." + }, + { + "input": "pachyonychia congenita", + "output": "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin." + }, + { + "input": "gitelman syndrome", + "output": "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or nacl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting)." + }, + { + "input": "brugada syndrome", + "output": "A heart conduction disease that is characterized by abnormal electrocardiogram (ecg) findings and an increased risk of sudden cardiac death." + }, + { + "input": "mevalonic aciduria", + "output": "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the mvk gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis." + }, + { + "input": "lissencephaly", + "output": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation." + }, + { + "input": "periventricular nodular heterotopia", + "output": "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain." + }, + { + "input": "buruli ulcer disease", + "output": "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." + }, + { + "input": "sertoli cell-only syndrome", + "output": "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development." + }, + { + "input": "juvenile myelomonocytic leukemia", + "output": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes." + }, + { + "input": "hyperphosphatemia", + "output": "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the fgf23, galnt3 or kl gene." + }, + { + "input": "wolf-hirschhorn syndrome", + "output": "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3." + }, + { + "input": "aspartylglucosaminuria", + "output": "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the aga gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins." + }, + { + "input": "antley-bixler syndrome with disordered steroidogenesis", + "output": "An antley-bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the fgfr2 gene." + }, + { + "input": "campomelic dysplasia", + "output": "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the sox9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles." + }, + { + "input": "farber lipogranulomatosis", + "output": "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition." + }, + { + "input": "muir-torre syndrome", + "output": "A lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in dna mismatch repair genes." + }, + { + "input": "loeys-dietz syndrome", + "output": "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in tgfb3 that results in connective tissue defects." + }, + { + "input": "erythrokeratodermia variabilis", + "output": "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis." + }, + { + "input": "yellow nail syndrome", + "output": "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached." + }, + { + "input": "costello syndrome", + "output": "A rasopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays." + }, + { + "input": "donohue syndrome", + "output": "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the insr gene causing abnormalities in the insulin receptor." + }, + { + "input": "carney complex", + "output": "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity." + }, + { + "input": "monilethrix", + "output": "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type ii hair cortex keratins." + }, + { + "input": "alstrom syndrome", + "output": "A syndrome that is characterized by multiorgan dysfunction. the key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the alms1 gene." + }, + { + "input": "netherton syndrome", + "output": "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the spink5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin." + }, + { + "input": "weill-marchesani syndrome", + "output": "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities." + }, + { + "input": "barth syndrome", + "output": "A 3-methylglutaconic aciduria 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." + }, + { + "input": "liddle syndrome", + "output": "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel." + }, + { + "input": "epidemic typhus", + "output": "A typhus that has_material_basis_in rickettsia prowazekii, which is transmitted by human body louse (pediculus humanus corporis). the infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium." + }, + { + "input": "endemic typhus", + "output": "A typhus that has_material_basis_in rickettsia typhi or has_material_basis_in rickettsia felis, which are transmitted by fleas (xenopsylla cheopis). the infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash." + }, + { + "input": "aneruptive fever", + "output": "A spotted fever that has_material_basis_in rickettsia helvetica, which is transmitted_by ticks (ixodes sp). the infection has_symptom fever, has_symptom headache, has_symptom myalgia." + }, + { + "input": "sennetsu fever", + "output": "A primary bacterial infectious disease that results_in infection, has_material_basis_in neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. the infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia." + }, + { + "input": "exanthem", + "output": "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders." + }, + { + "input": "bacterial exanthem", + "output": "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group a streptococcus and the production of an erythrogenic toxin." + }, + { + "input": "early congenital syphilis", + "output": "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." + }, + { + "input": "multinodular goiter", + "output": "A goiter characterized by a multinodular enlargement of the thyroid gland." + }, + { + "input": "parenchymatous neurosyphilis", + "output": "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." + }, + { + "input": "meningovascular neurosyphilis", + "output": "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. the infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries." + }, + { + "input": "exanthema subitum", + "output": "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in human herpesvirus 6 or has_material_basis_in human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck." + }, + { + "input": "variola major", + "output": "A smallpox that results_in severe infection, located_in skin, has_material_basis_in variola virus. the infection results_in_formation_of lesions." + }, + { + "input": "spinal polio", + "output": "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in human poliovirus 1, has_material_basis_in human poliovirus 2, or has_material_basis_in human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. the infection has symptom difficulty breathing, and has symptom paralysis of arms and legs." + }, + { + "input": "bulbospinal polio", + "output": "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in human poliovirus 1, has_material_basis_in human poliovirus 2, or has_material_basis_in human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. the infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs." + }, + { + "input": "paralytic poliomyelitis", + "output": "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in human poliovirus 1, has_material_basis_in human poliovirus 2, or has_material_basis_in human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. the infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis." + }, + { + "input": "o'nyong'nyong fever", + "output": "A viral infectious disease that results_in infection located_in joint, has_material_basis_in onyong-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." + }, + { + "input": "barmah forest virus disease", + "output": "A viral infectious disease that results_in infection located_in joint, has_material_basis_in barmah forest virus, which is transmitted_by mosquito bite. the infection has_symptom fever, has_symptom arthralgia, and has_symptom rash." + }, + { + "input": "ross river fever", + "output": "A viral infectious disease that results_in infection located_in joint, has_material_basis_in ross river virus, which is transmitted_by culex, and transmitted_by aedes mosquitoes. the infection has_symptom fever, has_symptom arthralgia, and has_symptom rash." + }, + { + "input": "oropouche fever", + "output": "A viral infectious disease that results in infection, has_material_basis_in oropouche virus, which is transmitted by biting midge, culicoides paraensis. the infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting." + }, + { + "input": "balkan hemorrhagic fever", + "output": "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in dobrava-belgrade virus, which is transmitted by yellow-necked field mouse, apodemus flavicollis. the infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure." + }, + { + "input": "adult t-cell leukemia/lymphoma", + "output": "A t-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from t-cells, has_material_basis_in human t-lymphotropic virus 1 (htlv-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. the infection results_in_formation_of skin lesions." + }, + { + "input": "maturity-onset diabetes of the young", + "output": "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the mody genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects." + }, + { + "input": "gamstorp-wohlfart syndrome", + "output": "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. in some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs." + }, + { + "input": "nonphotosensitive trichothiodystrophy 4", + "output": "A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the ttdn1 gene." + }, + { + "input": "adult spinal muscular atrophy", + "output": "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the smn1 or smn2 genes that are required for the survival of motor neurons." + }, + { + "input": "intermediate spinal muscular atrophy", + "output": "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the smn1 or smn2 genes that are required for the survival of motor neurons." + }, + { + "input": "congenital stationary night blindness", + "output": "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common erg findings of reduced or absent b-waves and generally normal a-waves." + }, + { + "input": "exudative vitreoretinopathy", + "output": "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina." + }, + { + "input": "posterior polar cataract", + "output": "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule." + }, + { + "input": "charcot-marie-tooth disease type 1", + "output": "A charcot-marie-tooth disease characterized by demyelination of the peripheral nerve axons." + }, + { + "input": "charcot-marie-tooth disease type 2", + "output": "A charcot-marie-tooth disease characterized by abnormalities in the axon of the peripheral nerve cell." + }, + { + "input": "charcot-marie-tooth disease type 3", + "output": "A charcot-marie-tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination." + }, + { + "input": "charcot-marie-tooth disease type 4", + "output": "A charcot-marie-tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "charcot-marie-tooth disease type x", + "output": "A charcot-marie-tooth disease that has_material_basis_in x-linked inheritance of a point mutation in the connexin-32 gene." + }, + { + "input": "charcot-marie-tooth disease intermediate type", + "output": "A charcot-marie-tooth disease characterized by motor conduction velocities above and below 38 m/s." + }, + { + "input": "hypermethioninemia", + "output": "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." + }, + { + "input": "visceral heterotaxy", + "output": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen." + }, + { + "input": "congenital adrenal insufficiency", + "output": "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase." + }, + { + "input": "familial medullary thyroid carcinoma", + "output": "A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "hereditary sensory neuropathy", + "output": "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages." + }, + { + "input": "saldino-noonan syndrome", + "output": "A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the ras/mitogen activated protein kinase." + }, + { + "input": "proteasome-associated autoinflammatory syndrome 1", + "output": "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the psmb8 gene on chromosome 6p21 or a heterozygous mutation in the psmb8 gene and a heterozygous mutation in either the psma3 gene on chromosome 14q23 or in the psmb4 gene on chromosome 1q21." + }, + { + "input": "x-linked sideroblastic anemia with ataxia", + "output": "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the abcb7 gene." + }, + { + "input": "congenital muscular dystrophy", + "output": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." + }, + { + "input": "ullrich congenital muscular dystrophy", + "output": "A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the col6a1, col6a2 and col6a3 that produce components of type vi collagen." + }, + { + "input": "fukuyama congenital muscular dystrophy", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the fktn gene that produces the fukutin protein." + }, + { + "input": "walker-warburg syndrome", + "output": "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including pomt1, pomt2, ispd, fktn, fkrp, and large1." + }, + { + "input": "lennox-gastaut syndrome", + "output": "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood." + }, + { + "input": "west syndrome", + "output": "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability." + }, + { + "input": "nonsyndromic deafness", + "output": "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms." + }, + { + "input": "autosomal dominant nonsyndromic deafness", + "output": "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode." + }, + { + "input": "autosomal recessive nonsyndromic deafness", + "output": "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode." + }, + { + "input": "x-linked nonsyndromic deafness", + "output": "A nonsyndromic deafness characterized by an x-linked inheritance mode." + }, + { + "input": "orofacial cleft", + "output": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development." + }, + { + "input": "spondylocostal dysostosis", + "output": "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. the bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together." + }, + { + "input": "seckel syndrome", + "output": "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability." + }, + { + "input": "congenital disorder of glycosylation type i", + "output": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins." + }, + { + "input": "congenital disorder of glycosylation type ii", + "output": "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain." + }, + { + "input": "cone-rod dystrophy", + "output": "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells." + }, + { + "input": "2-hydroxyglutaric aciduria", + "output": "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage." + }, + { + "input": "l-2-hydroxyglutaric aciduria", + "output": "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)." + }, + { + "input": "d-2-hydroxyglutaric aciduria", + "output": "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory." + }, + { + "input": "senior-loken syndrome", + "output": "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease." + }, + { + "input": "cranioectodermal dysplasia", + "output": "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies." + }, + { + "input": "occult macular dystrophy", + "output": "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings." + }, + { + "input": "glycogen storage disease xv", + "output": "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the gyg1 gene that encodes glycogenin-1." + }, + { + "input": "hereditary lymphedema", + "output": "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system." + }, + { + "input": "brachydactyly", + "output": "A dysostosis characterized by short fingers and toes." + }, + { + "input": "gummatous syphilis", + "output": "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. they form in the liver, bones, and testes but may affect any organ." + }, + { + "input": "congenital generalized lipodystrophy", + "output": "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance." + }, + { + "input": "trichotillomania", + "output": "An impulse control disorder that involves the uncontrollable plucking of ones hair." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b1", + "output": "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the pomt1 gene that encodes o-mannosyltransferase." + }, + { + "input": "inflammatory bowel disease", + "output": "An intestinal disease characterized by inflammation located in all parts of digestive tract." + }, + { + "input": "severe congenital neutropenia", + "output": "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections." + }, + { + "input": "tooth agenesis", + "output": "A tooth disease characterized by failure to develop one or more missing teeth." + }, + { + "input": "asphyxiating thoracic dystrophy", + "output": "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy." + }, + { + "input": "primary congenital glaucoma", + "output": "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the myoc gene and appears before the age of 5 without other associated abnormalities." + }, + { + "input": "glycogen storage disease ix", + "output": "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity." + }, + { + "input": "taeniasis", + "output": "A parasitic helminthiasis infectious disease that has_material_basis_in taenia solium or has_material_basis_in taenia saginata, which are transmitted by ingestion of undercooked contaminated meat." + }, + { + "input": "intestinal schistosomiasis", + "output": "A schistosomiasis that involves parasitic infection of the intestine caused by schistosoma mansoni, schistosoma intercalatum or schistosomiasis japonicum. the symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia." + }, + { + "input": "extrapulmonary tuberculosis", + "output": "A tuberculosis that occurs at body sites other than the lung." + }, + { + "input": "abdominal tuberculosis", + "output": "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas." + }, + { + "input": "abcd syndrome", + "output": "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin b receptor gene (ednrb)." + }, + { + "input": "adult syndrome", + "output": "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in tp63." + }, + { + "input": "triple-a syndrome", + "output": "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the aaas gene that encodes aladin within the nuclear envelope and results in dysfunction of the autonomic nervous system." + }, + { + "input": "acheiropody", + "output": "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the lmbr1 gene." + }, + { + "input": "acrocapitofemoral dysplasia", + "output": "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the indian hedgehog homolog gene." + }, + { + "input": "acrodermatitis enteropathica", + "output": "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the slc39a4 gene that encodes a zinc uptake protein and results in zinc deficiency." + }, + { + "input": "acrokeratosis verruciformis", + "output": "A keratosis that has_material_basis_in mutations in the atp2a2 gene." + }, + { + "input": "askin's tumor", + "output": "An ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated." + }, + { + "input": "oral cavity carcinoma in situ", + "output": "An in situ carcinoma of the oral cavity that is located_in the epithelium. it is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma." + }, + { + "input": "pharynx carcinoma in situ", + "output": "An in situ carcinoma of the pharynx that is located_in the epithelium. it is associated with the development of squamous cell carcinoma." + }, + { + "input": "gallbladder carcinoma in situ", + "output": "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma." + }, + { + "input": "bile duct carcinoma in situ", + "output": "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma." + }, + { + "input": "bronchus carcinoma in situ", + "output": "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma." + }, + { + "input": "respiratory system cancer", + "output": "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract." + }, + { + "input": "paranasal sinus cancer", + "output": "A respiratory system cancer that is located_in the paranasal sinuses." + }, + { + "input": "infiltrating renal pelvis transitional cell carcinoma", + "output": "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis." + }, + { + "input": "respiratory system benign neoplasm", + "output": "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm." + }, + { + "input": "reproductive organ benign neoplasm", + "output": "An organ system benign neoplasm that is located_in reproductive system organs." + }, + { + "input": "bladder benign neoplasm", + "output": "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas." + }, + { + "input": "gastrointestinal system benign neoplasm", + "output": "An organ system benign neoplasm located_in gastrointestinal tract organs." + }, + { + "input": "biliary tract benign neoplasm", + "output": "A hepatobiliary benign neoplasm located_in the biliary tract." + }, + { + "input": "gastrointestinal neuroendocrine tumor", + "output": "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells." + }, + { + "input": "advanced sleep phase syndrome", + "output": "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning." + }, + { + "input": "aicardi-goutieres syndrome", + "output": "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased csf alpha-interferon, and negative serologic investigations for common prenatal infections." + }, + { + "input": "aland island eye disease", + "output": "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the cacna1f gene." + }, + { + "input": "allan-herndon-dudley syndrome", + "output": "A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the slc16a2 protein which is then unable to transport the thyroid triiodothyronine (t3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement." + }, + { + "input": "oculocutaneous albinism", + "output": "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes." + }, + { + "input": "ocular albinism 1", + "output": "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the gpr143 gene that encodes segments of the melanosomes that stores melanin." + }, + { + "input": "alopecia universalis", + "output": "An alopecia characterized by the complete loss of hair on the scalp and body." + }, + { + "input": "alternating hemiplegia of childhood", + "output": "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body." + }, + { + "input": "familial visceral amyloidosis", + "output": "An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys." + }, + { + "input": "finnish type amyloidosis", + "output": "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (gsn), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa." + }, + { + "input": "transthyretin amyloidosis", + "output": "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and cns amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the ttr gene." + }, + { + "input": "primary cutaneous amyloidosis", + "output": "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis." + }, + { + "input": "anauxetic dysplasia 1", + "output": "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the rmrp gene on chromosome 9p13." + }, + { + "input": "rh deficiency syndrome", + "output": "A hemolytic anemia that is characterized by deficiency of rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the rhag gene on chromosome 6p12." + }, + { + "input": "hypochromic microcytic anemia", + "output": "A microcytic anemia characterized by paler than normal blood cells." + }, + { + "input": "arterial calcification of infancy", + "output": "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall." + }, + { + "input": "arterial tortuosity syndrome", + "output": "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta." + }, + { + "input": "distal arthrogryposis", + "output": "A muscle tissue disease characterized by congenital joint contractures of hand and feet." + }, + { + "input": "arts syndrome", + "output": "An x-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the prps1 gene." + }, + { + "input": "atelosteogenesis", + "output": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." + }, + { + "input": "atransferrinemia", + "output": "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (tf) on chromosome 3q22." + }, + { + "input": "familial atrial fibrillation", + "output": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (atfb) genes." + }, + { + "input": "atrioventricular septal defect", + "output": "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs." + }, + { + "input": "baller-gerold syndrome", + "output": "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone." + }, + { + "input": "bamforth-lazarus syndrome", + "output": "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the fkhl15 gene on chromosome 9q22." + }, + { + "input": "pseudo-torch syndrome 1", + "output": "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the ocln gene on chromosome 5q13.2." + }, + { + "input": "bannayan-riley-ruvalcaba syndrome", + "output": "A cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the pten gene on chromosome 10q23." + }, + { + "input": "bart-pumphrey syndrome", + "output": "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the gjb2 gene on chromosome 13q12." + }, + { + "input": "biotin-responsive basal ganglia disease", + "output": "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia." + }, + { + "input": "beare-stevenson cutis gyrata syndrome", + "output": "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the fgfr2 gene on chromosome 10q26." + }, + { + "input": "vitelliform macular dystrophy", + "output": "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss." + }, + { + "input": "bestrophinopathy", + "output": "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the best1 gene on chromosome 11q12." + }, + { + "input": "bethlem myopathy", + "output": "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the col6a1 gene, the col6a2 gene, or the col6a3 gene." + }, + { + "input": "bietti crystalline corneoretinal dystrophy", + "output": "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the cyp4v2 gene on chromosome 4q35." + }, + { + "input": "fetal alcohol syndrome", + "output": "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. the presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction." + }, + { + "input": "partial fetal alcohol syndrome", + "output": "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure." + }, + { + "input": "alcohol-related neurodevelopmental disorder", + "output": "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure." + }, + { + "input": "alcohol-related birth defects", + "output": "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure." + }, + { + "input": "spastic cerebral palsy", + "output": "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements." + }, + { + "input": "ataxic cerebral palsy", + "output": "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing." + }, + { + "input": "female breast cancer", + "output": "A breast cancer that develops from breast tissue in females." + }, + { + "input": "dyskinetic cerebral palsy", + "output": "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). the individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions." + }, + { + "input": "mixed cerebral palsy", + "output": "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. the individual have difficulty with speaking and swallowing." + }, + { + "input": "congenital bile acid synthesis defect", + "output": "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver." + }, + { + "input": "birk-barel syndrome", + "output": "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the kcnk9 gene on chromosome 8q24." + }, + { + "input": "birt-hogg-dube syndrome", + "output": "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (flcn) on chromosome 17p11." + }, + { + "input": "bjornstad syndrome", + "output": "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the bcs1l gene on chromosome 2q35." + }, + { + "input": "blau syndrome", + "output": "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. it has_material_basis_in heterozygous mutations in the nod2 gene." + }, + { + "input": "blue cone monochromacy", + "output": "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." + }, + { + "input": "boomerang dysplasia", + "output": "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the flnb gene on chromosome 3p14." + }, + { + "input": "borjeson-forssman-lehmann syndrome", + "output": "An x-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in x-linked recessive inheritance of mutations in the phf6 gene." + }, + { + "input": "athabaskan brainstem dysgenesis syndrome", + "output": "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the hoxa1 gene." + }, + { + "input": "bothnia retinal dystrophy", + "output": "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in rlbp1 gene." + }, + { + "input": "bowen-conradi syndrome", + "output": "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the emg1 gene on chromosome 12p13." + }, + { + "input": "small cell carcinoma", + "output": "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells." + }, + { + "input": "organ system cancer", + "output": "A cancer that is classified based on the organ it starts in." + }, + { + "input": "cell type cancer", + "output": "A cancer that is classified by the type of cell from which it is derived." + }, + { + "input": "anal canal cancer", + "output": "A large intestine cancer that is located_in the terminal part of the large intestine." + }, + { + "input": "brachydactyly-syndactyly syndrome", + "output": "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the hoxd13 gene on chromosome 2q31." + }, + { + "input": "brachyolmia", + "output": "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature." + }, + { + "input": "branchiooculofacial syndrome", + "output": "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts." + }, + { + "input": "brody myopathy", + "output": "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles." + }, + { + "input": "brooke-spiegler syndrome", + "output": "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the cyld gene on chromosome 16q12." + }, + { + "input": "brown-vialetto-van laere syndrome", + "output": "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves." + }, + { + "input": "malignant pleural solitary fibrous tumor", + "output": "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura." + }, + { + "input": "fetal alcohol spectrum disorder", + "output": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy." + }, + { + "input": "chorioamnionitis", + "output": "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection." + }, + { + "input": "funisitis", + "output": "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord." + }, + { + "input": "dent disease", + "output": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in x-linked recessive inheritance of mutations in the clcn5 gene or ocrl1 gene." + }, + { + "input": "cardiomyopathy", + "output": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle." + }, + { + "input": "electroclinical syndrome", + "output": "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, eeg features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep." + }, + { + "input": "neonatal period electroclinical syndrome", + "output": "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age." + }, + { + "input": "infancy electroclinical syndrome", + "output": "An electroclinical syndrome with onset in infancy occurring between birth and one year of age." + }, + { + "input": "childhood electroclinical syndrome", + "output": "An electroclinical syndrome with onset in childhood between one and 12 years of age." + }, + { + "input": "adolescence-adult electroclinical syndrome", + "output": "An electroclinical syndrome with onset in adolescence and adulthood." + }, + { + "input": "variable age at onset electroclinical syndrome", + "output": "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration." + }, + { + "input": "early onset absence epilepsy", + "output": "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years." + }, + { + "input": "early infantile epileptic encephalopathy", + "output": "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures." + }, + { + "input": "3-methylcrotonyl-coa carboxylase deficiency", + "output": "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-coa carboxylase that helps break down proteins containing the amino acid leucine. this disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy." + }, + { + "input": "aceruloplasminemia", + "output": "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." + }, + { + "input": "agat deficiency", + "output": "An amino acid metabolic disorder that has_material_basis_in a mutation in the gatm gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis." + }, + { + "input": "cox deficiency, infantile mitochondrial myopathy", + "output": "A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis." + }, + { + "input": "methylmalonic aciduria and homocystinuria type cblc", + "output": "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both adocbl and mecbl (cblc) and is characterized by decreased levels of the coenzymes adenosylcobalamin (adocbl) and methylcobalamin (mecbl), which results in decreased activity of the respective enzymes methylmalonyl-coa mutase." + }, + { + "input": "methylmalonic aciduria and homocystinuria type cbld", + "output": "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of mcm and ms activities." + }, + { + "input": "methylmalonic aciduria and homocystinuria type cblf", + "output": "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (adocbl) and methylcobalamin (mecbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the lmbrd1 gene on chromosome 6q13." + }, + { + "input": "vitamin metabolic disorder", + "output": "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism." + }, + { + "input": "cerebral folate receptor alpha deficiency", + "output": "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (folr1) gene coding for folate receptor alpha (fralpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy." + }, + { + "input": "ornithine translocase deficiency", + "output": "An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood." + }, + { + "input": "serine deficiency", + "output": "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid l-serine." + }, + { + "input": "phgdh deficiency", + "output": "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of l-serine biosynthesis." + }, + { + "input": "psat deficiency", + "output": "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid." + }, + { + "input": "psph deficiency", + "output": "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of l-serine." + }, + { + "input": "tyrosinemia type ii", + "output": "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels." + }, + { + "input": "tyrosinemia type i", + "output": "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body." + }, + { + "input": "tyrosinemia type iii", + "output": "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine." + }, + { + "input": "glycogen metabolism disorder", + "output": "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen." + }, + { + "input": "chanarin-dorfman syndrome", + "output": "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues." + }, + { + "input": "coenzyme q10 deficiency disease", + "output": "A mitochondrial metabolism disease that is characterized by a deficiency of coq10 resulting from reduced biosynthesis." + }, + { + "input": "vitamin b12 deficiency", + "output": "A vitamin metabolic disorder that results from low blood levels of vitamin b12." + }, + { + "input": "methylmalonic aciduria and homocystinuria type cble", + "output": "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the mtrr gene on chromosome 5p15 that causes inborn error of vitamin b12 metabolism." + }, + { + "input": "methylmalonic aciduria and homocystinuria type cblg", + "output": "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the mtr gene on chromosome 1q43 that causes an inborn error of vitamin b12 metabolism." + }, + { + "input": "congenital intrinsic factor deficiency", + "output": "A vitamin b12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin b12 absorption." + }, + { + "input": "x-linked monogenic disease", + "output": "A monogenic disease that has_material_basis_in mutations in genes on the x chromosome." + }, + { + "input": "autosomal dominant disease", + "output": "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease." + }, + { + "input": "autosomal recessive disease", + "output": "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop." + }, + { + "input": "y-linked monogenic disease", + "output": "A monogenic disease that has_material_basis_in mutations on the y chromosome." + }, + { + "input": "autosomal genetic disease", + "output": "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes." + }, + { + "input": "qazi markouizos syndrome", + "output": "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation." + }, + { + "input": "alcohol dependence", + "output": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol." + }, + { + "input": "nicotine dependence", + "output": "A substance dependence that is characterized by a physical dependence on nicotine." + }, + { + "input": "mature t-cell and nk-cell lymphoma", + "output": "A t-cell non-hodgkin lymphoma that has_material_basis_in mature t lymphocytes and natural killer cells." + }, + { + "input": "anaplastic large cell lymphoma", + "output": "A non-hodgkin lymphoma involving aberrant t-cells." + }, + { + "input": "diffuse large b-cell lymphoma", + "output": "A b-cell lymphoma that is a cancer of b cells presenting as an aggressive tumour which can arise in virtually any part of the body." + }, + { + "input": "mantle cell lymphoma", + "output": "A b-cell lymphocytic neoplasm due to cd5 positive antigen-naive pregerminal center b-cell within the mantle zone that surrounds normal germinal center follicles." + }, + { + "input": "marginal zone lymphoma", + "output": "A b-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes." + }, + { + "input": "peripheral t-cell lymphoma", + "output": "A mature t-cell and nk-cell lymphoma includes a group of t-cell lymphomas that develop away from the thymus." + }, + { + "input": "splenic marginal zone lymphoma", + "output": "A marginal zone b-cell lymphocyte located_in the spleen comprised of b-cells in place of white pulp." + }, + { + "input": "t-cell large granular lymphocyte leukemia", + "output": "A t-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (lgls) in the peripheral blood." + }, + { + "input": "amyotrophic lateral sclerosis type 8", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the vapb gene on chromosome 20." + }, + { + "input": "cerebellar ataxia", + "output": "A hereditary ataxia that is characterized by ataxia originating in the cerebellum." + }, + { + "input": "ataxia with oculomotor apraxia type 1", + "output": "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the aptx gene." + }, + { + "input": "spinocerebellar ataxia with axonal neuropathy 2", + "output": "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the setx gene on chromosome 9q34.13. oculomotor apraxia is common, but not universal." + }, + { + "input": "deafness-dystonia-optic neuronopathy syndrome", + "output": "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the timm8a gene resulting in abnormal protein transport within the mitochondria." + }, + { + "input": "metabolic acidosis", + "output": "An acquired metabolic disease that characterized by excessive production of acid." + }, + { + "input": "myotonic dystrophy type 2", + "output": "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the cnbp (znf9) gene containing an expansion of a cctg repeat in intron one." + }, + { + "input": "x-linked myopathy with excessive autophagy", + "output": "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the vma21 gene on chromosome xq28." + }, + { + "input": "adenylosuccinase lyase deficiency", + "output": "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the adsl gene resulting in adenylosuccinate lyase deficiency." + }, + { + "input": "arc syndrome", + "output": "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the vps33b gene or homozygous or compound heterozygous mutation in the vipar gene on chromosome 14q24.3." + }, + { + "input": "armfield syndrome", + "output": "A syndromic x-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region xq28." + }, + { + "input": "neuroacanthocytosis", + "output": "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders." + }, + { + "input": "choreaacanthocytosis", + "output": "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the vps13a gene, which encodes chorein, on chromosome 9q21." + }, + { + "input": "midface dysplasia", + "output": "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 1", + "output": "A mitochondrial complex v (atp synthase) deficiency that has_material_basis_in mutation in the atpaf2 gene on chromosome 17p11." + }, + { + "input": "n syndrome", + "output": "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, t-cell leukemia, cryptorchidism, hypospadias and spasticity." + }, + { + "input": "polycystic liver disease", + "output": "A liver disease that is characterized by the presence of multiple cysts located_in the liver." + }, + { + "input": "pheochromocytoma", + "output": "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure." + }, + { + "input": "spastic ataxia 1", + "output": "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the vamp1 gene on chromosome 12p13." + }, + { + "input": "paraganglioma", + "output": "A pheochromocytoma that arises in extraadrenal sympathetic ganglia." + }, + { + "input": "rapadilino syndrome", + "output": "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the dna helicase gene recql4 on chromosome 8q24." + }, + { + "input": "schneckenbecken dysplasia", + "output": "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the slc35d1 gene on chromosome 1p31." + }, + { + "input": "non-syndromic x-linked intellectual disability", + "output": "A non-syndromic intellectual disability characterized by a x-linked inheritance pattern." + }, + { + "input": "joubert syndrome", + "output": "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones." + }, + { + "input": "meckel syndrome", + "output": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia." + }, + { + "input": "hydrolethalus syndrome", + "output": "A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of d211g of the hyls1 gene which plays a central role in cilia formation." + }, + { + "input": "ogden syndrome", + "output": "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in x-linked recessive or x-linked dominant mutation in the naa10 gene on chromosome xq28." + }, + { + "input": "zollinger-ellison syndrome", + "output": "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach." + }, + { + "input": "secondary progressive multiple sclerosis", + "output": "A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks." + }, + { + "input": "primary progressive multiple sclerosis", + "output": "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. the rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous." + }, + { + "input": "progressive relapsing multiple sclerosis", + "output": "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset." + }, + { + "input": "iridogoniodysgenesis syndrome", + "output": "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the pitx2 gene." + }, + { + "input": "juvenile polyposis syndrome", + "output": "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum." + }, + { + "input": "proximal symphalangism", + "output": "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness." + }, + { + "input": "tarsal-carpal coalition syndrome", + "output": "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion." + }, + { + "input": "fibular hypoplasia and complex brachydactyly", + "output": "An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly." + }, + { + "input": "persistent mullerian duct syndrome", + "output": "A pseudohermaphroditism that is characterized by the persistence of mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male." + }, + { + "input": "multiple cutaneous and mucosal venous malformations", + "output": "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the tek gene on chromosome 9p21." + }, + { + "input": "short qt syndrome", + "output": "A heart conduction disease that is characterized by heart arrhythmia defined as a short qt interval on an ekg (less than 300 ms) that does not significantly change with heart rate, tall and peaked t waves, and a structurally normal heart." + }, + { + "input": "multiple synostoses syndrome", + "output": "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion." + }, + { + "input": "cone dystrophy", + "output": "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision." + }, + { + "input": "achalasia microcephaly syndrome", + "output": "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections)." + }, + { + "input": "peroxisomal acyl-coa oxidase deficiency", + "output": "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the acox1 gene on chromosome 17q25.1." + }, + { + "input": "cerebral creatine deficiency syndrome", + "output": "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome xq28." + }, + { + "input": "guanidinoacetate methyltransferase deficiency", + "output": "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the gamt gene on chromosome 19p13." + }, + { + "input": "cerebral creatine deficiency syndrome 1", + "output": "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the slc6a8 gene on chromosome xq28." + }, + { + "input": "androgenic alopecia", + "output": "An alopecia that is characterized by m-shaped hair line recession and thinning of hair at the crown of the head in males." + }, + { + "input": "ehlers-danlos syndrome spondylodysplastic type 2", + "output": "An ehlers-danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the b3galt6 gene." + }, + { + "input": "glioblastoma classical subtype", + "output": "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations." + }, + { + "input": "glioblastoma proneural subtype", + "output": "A glioblastoma that is characterized by idh1 and p53 mutations and platelet derived growth factor a amplification." + }, + { + "input": "glioblastoma mesenchymal subtype", + "output": "A glioblastoma that is characterized by the most frequent number of mutation of the neurofibromin 1 gene." + }, + { + "input": "glioblastoma neural subtype", + "output": "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons." + }, + { + "input": "kahrizi syndrome", + "output": "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the srd5a3 gene." + }, + { + "input": "mucopolysaccharidosis ix", + "output": "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase." + }, + { + "input": "biotin deficiency", + "output": "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth." + }, + { + "input": "congenital adrenal hyperplasia", + "output": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency." + }, + { + "input": "spondyloepimetaphyseal dysplasia, pakistani type", + "output": "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence." + }, + { + "input": "spondyloepiphyseal dysplasia with congenital joint dislocations", + "output": "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints." + }, + { + "input": "temtamy preaxial brachydactyly syndrome", + "output": "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the chsy1 gene." + }, + { + "input": "urofacial syndrome", + "output": "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding." + }, + { + "input": "stargardt disease", + "output": "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness." + }, + { + "input": "transcobalamin ii deficiency", + "output": "A vitamin b12 deficiency that is characterized by a lack of vitamin b12 intestinal absorption resulting from a deficiency in the b12 transport protein tcii." + }, + { + "input": "atrioventricular block", + "output": "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart." + }, + { + "input": "first-degree atrioventricular block", + "output": "An atrioventricular block that is characterized by prolonged pr interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node." + }, + { + "input": "second-degree atrioventricular block", + "output": "An atrioventricular block that is characterized by progressive prolongation of the pr interval on consecutive beats followed by a blocked p wave on electrocardiogram or intermittently non-conducted p waves not preceded by pr changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node." + }, + { + "input": "third-degree atrioventricular block", + "output": "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between p waves and qrs complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles." + }, + { + "input": "sinoatrial node disease", + "output": "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm." + }, + { + "input": "endocardium disease", + "output": "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart." + }, + { + "input": "tricuspid valve disease", + "output": "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle." + }, + { + "input": "rheumatic heart disease", + "output": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to group a beta-hemolytic streptococci (gas) that results in valvular damage. the cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords." + }, + { + "input": "artery disease", + "output": "A vascular disease that is located_in an artery." + }, + { + "input": "pericardium disease", + "output": "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart." + }, + { + "input": "peripheral artery disease", + "output": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs." + }, + { + "input": "familial encephalopathy with neuroserpin inclusion bodies", + "output": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the serpini1 gene inherited in an in autosomal dominant pattern." + }, + { + "input": "pyrimidine metabolic disorder", + "output": "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism." + }, + { + "input": "orotic aciduria", + "output": "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine." + }, + { + "input": "charge syndrome", + "output": "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina." + }, + { + "input": "generalized dystonia", + "output": "A dystonia that affects most or all of the body." + }, + { + "input": "focal dystonia", + "output": "A dystonia that is localized to a specific part of the body." + }, + { + "input": "multifocal dystonia", + "output": "A dystonia that involves two or more unrelated body parts." + }, + { + "input": "segmental dystonia", + "output": "A dystonia that affects two or more adjacent parts of the body." + }, + { + "input": "anismus", + "output": "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation." + }, + { + "input": "cervical dystonia", + "output": "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards." + }, + { + "input": "focal hand dystonia", + "output": "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions." + }, + { + "input": "oculogyric crisis", + "output": "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes." + }, + { + "input": "oromandibular dystonia", + "output": "A focal dystonia that is characterized by distortions of the mouth and tongue." + }, + { + "input": "spasmodic dystonia", + "output": "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech." + }, + { + "input": "cranio-facial dystonia", + "output": "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck." + }, + { + "input": "hemidystonia", + "output": "A multifocal dystonia that involves the arm and leg on the same side of the body." + }, + { + "input": "sleep apnea", + "output": "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep." + }, + { + "input": "obstructive sleep apnea", + "output": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep." + }, + { + "input": "periampullary adenoma", + "output": "An ampulla of vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential." + }, + { + "input": "diabetic encephalopathy", + "output": "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes." + }, + { + "input": "glomerulosclerosis", + "output": "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney." + }, + { + "input": "limb ischemia", + "output": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply." + }, + { + "input": "chronic venous insufficiency", + "output": "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins." + }, + { + "input": "muckle-wells syndrome", + "output": "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the nlrp3 gene on chromosome 1q44." + }, + { + "input": "renal fibrosis", + "output": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function." + }, + { + "input": "oppositional defiant disorder", + "output": "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents." + }, + { + "input": "perrault syndrome", + "output": "A syndrome that is characterized by sensorineural hearing loss and ovarian failure." + }, + { + "input": "marshall-smith syndrome", + "output": "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation." + }, + { + "input": "hemorrhagic cystitis", + "output": "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract." + }, + { + "input": "colorectal adenoma", + "output": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum." + }, + { + "input": "colorectal adenocarcinoma", + "output": "A colorectal carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "pyometritis", + "output": "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity." + }, + { + "input": "arteritic anterior ischemic optic neuropathy", + "output": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis." + }, + { + "input": "non-arteritic anterior ischemic optic neuropathy", + "output": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease." + }, + { + "input": "tongue squamous cell carcinoma", + "output": "A head and neck squamous cell carcinoma that is located_in the tongue." + }, + { + "input": "oral squamous cell carcinoma", + "output": "An oral cavity cancer that has_material_basis_in squamous cells." + }, + { + "input": "hepatocellular adenoma", + "output": "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." + }, + { + "input": "villous adenoma", + "output": "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body." + }, + { + "input": "pulmonary adenocarcinoma in situ", + "output": "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern." + }, + { + "input": "fibroma", + "output": "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue." + }, + { + "input": "large cell neuroendocrine carcinoma", + "output": "A lung large cell carcinoma that derives_from neuroendocrine cells." + }, + { + "input": "follicular lymphoma", + "output": "A b-cell lymphoma that is characterized as an indolent non-hodgkin's lymphoma and has_material_basis_in follicle center b-cells (centrocytes and centroblasts)." + }, + { + "input": "caroli disease", + "output": "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts." + }, + { + "input": "pancreatic agenesis", + "output": "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth." + }, + { + "input": "fragile x-associated tremor/ataxia syndrome", + "output": "A x-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the fmr1 gene that results_in a toxic gain of function of fmr1 rna." + }, + { + "input": "koolen de vries syndrome", + "output": "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the kansl1-gene." + }, + { + "input": "inclusion body myopathy with paget disease of bone and frontotemporal dementia", + "output": "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein." + }, + { + "input": "spinocerebellar ataxia type 5", + "output": "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the sptbn2 gene." + }, + { + "input": "infantile cerebellar-retinal degeneration", + "output": "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration." + }, + { + "input": "triosephosphate isomerase deficiency", + "output": "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (tpi1) gene inherited as an autosomal recessive trait." + }, + { + "input": "image syndrome", + "output": "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the cdkn1c gene." + }, + { + "input": "troyer syndrome", + "output": "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the spg20 gene." + }, + { + "input": "townes-brocks syndrome", + "output": "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations." + }, + { + "input": "syndromic intellectual disability", + "output": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms." + }, + { + "input": "non-syndromic intellectual disability", + "output": "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms." + }, + { + "input": "synucleinopathy", + "output": "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells." + }, + { + "input": "adrenal cortical adenoma", + "output": "An adrenal adenoma that is a benign tumor of the adrenal cortex." + }, + { + "input": "adrenal gland pheochromocytoma", + "output": "A malignant pheochromocytoma that is characterized by overproduction of adrenaline." + }, + { + "input": "gallbladder adenoma", + "output": "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder." + }, + { + "input": "ameloblastoma", + "output": "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium." + }, + { + "input": "bone ameloblastoma", + "output": "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone." + }, + { + "input": "bone squamous cell carcinoma", + "output": "A bone carcinoma that derives_from squamous epithelial cells." + }, + { + "input": "bone chondrosarcoma", + "output": "A chondrosarcoma that is located_in bone." + }, + { + "input": "phalanx chondroma", + "output": "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells." + }, + { + "input": "brain stem medulloblastoma", + "output": "A brain stem cancer that begins in the lower part of the brain on the floor of the skull." + }, + { + "input": "sacrum chordoma", + "output": "A spinal chordoma that is located_in the sacrum." + }, + { + "input": "corpus callosum oligodendroglioma", + "output": "A brain oligodendroglioma located_in the corpus callosum." + }, + { + "input": "medulloblastoma", + "output": "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor." + }, + { + "input": "parietal lobe ependymoma", + "output": "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain." + }, + { + "input": "salivary gland carcinoma", + "output": "A salivary gland cancer that has_material_basis_in epithelial cells." + }, + { + "input": "inflammatory myofibroblastic tumor", + "output": "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells." + }, + { + "input": "conjunctival nevus", + "output": "A sensory organ benign neoplasm that is located in the eye conjunctiva." + }, + { + "input": "mixed extragonadal germ cell cancer", + "output": "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle." + }, + { + "input": "myelodysplastic syndrome", + "output": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets." + }, + { + "input": "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue", + "output": "A marginal zone b-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production." + }, + { + "input": "cecum adenoma", + "output": "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." + }, + { + "input": "appendix carcinoid tumor", + "output": "An appendix cancer that has_material_basis_in neurodendocrine cells." + }, + { + "input": "colon adenoma", + "output": "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." + }, + { + "input": "large intestine adenocarcinoma", + "output": "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin." + }, + { + "input": "large intestine adenoma", + "output": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine." + }, + { + "input": "rectal adenoma", + "output": "An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." + }, + { + "input": "bronchus mucoepidermoid carcinoma", + "output": "A mucoepidermoid carcinoma located_in the bronchus." + }, + { + "input": "lung combined type small cell adenocarcinoma", + "output": "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin." + }, + { + "input": "vaginal carcinoma", + "output": "A vaginal cancer that has_material_basis_in epithelial cells." + }, + { + "input": "trachea mucoepidermoid carcinoma", + "output": "A mucoepidermoid carcinoma located_in the trachea." + }, + { + "input": "tonsil squamous cell carcinoma", + "output": "A tonsil cancer that has_material_basis_in squamous cells." + }, + { + "input": "pharynx squamous cell carcinoma", + "output": "A pharynx cancer that has_material_basis_in squamous cells." + }, + { + "input": "gastrointestinal carcinoma", + "output": "A gastrointestinal system cancer that has_material_basis_in epithelial cells." + }, + { + "input": "spindle epithelial tumor with thymus-like differentiation tumor", + "output": "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands." + }, + { + "input": "striated muscle rhabdoid tumor", + "output": "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm." + }, + { + "input": "small intestine carcinoid neuroendocrine tumor", + "output": "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine." + }, + { + "input": "jejunal adenocarcinoma", + "output": "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin." + }, + { + "input": "duodenum adenoma", + "output": "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin." + }, + { + "input": "ovarian melanoma", + "output": "An ovarian cancer that has_material_basis_in melanoctyes." + }, + { + "input": "mucosal melanoma", + "output": "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract." + }, + { + "input": "sublingual gland adenoid cystic carcinoma", + "output": "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ." + }, + { + "input": "parotid gland adenoid cystic carcinoma", + "output": "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ." + }, + { + "input": "lung mucoepidermoid carcinoma", + "output": "A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells." + }, + { + "input": "ovarian serous carcinoma", + "output": "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid." + }, + { + "input": "ovarian clear cell carcinoma", + "output": "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells." + }, + { + "input": "cervical neuroblastoma", + "output": "An extracranial neuroblastoma that has_material_basis_in immature nerve cells." + }, + { + "input": "extra-adrenal pheochromocytoma", + "output": "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin." + }, + { + "input": "retroperitoneal neuroblastoma", + "output": "A retroperitoneal cancer that has_material_basis_in immature nerve cells." + }, + { + "input": "breast lobular carcinoma", + "output": "A breast carcinoma that derives_from breast lobules (milk glands)." + }, + { + "input": "uterine corpus endometrial carcinoma", + "output": "A uterine corpus cancer that is derives_from the inner lining of the uterus." + }, + { + "input": "endocervical adenocarcinoma", + "output": "An endocervical carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "spastic ataxia 2", + "output": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the kif1c gene on chromosome 17p13." + }, + { + "input": "spastic ataxia 3", + "output": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the mars2 gene on chromosome 2q33." + }, + { + "input": "spastic ataxia 4", + "output": "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the mtpap gene on chromosome 10p11." + }, + { + "input": "spastic ataxia 5", + "output": "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the afg3l2 gene on chromosome 18p11." + }, + { + "input": "spastic ataxia 7", + "output": "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs." + }, + { + "input": "charlevoix-saguenay spastic ataxia", + "output": "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12." + }, + { + "input": "hereditary hypophosphatemic rickets with hypercalciuria", + "output": "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin d levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain." + }, + { + "input": "autosomal dominant hypophosphatemic rickets", + "output": "A rickets characterized by low levels of serum phosphate and elevated levels of alp and phosphaturia and that has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "autosomal recessive hypophosphatemic rickets", + "output": "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the dmp1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." + }, + { + "input": "autosomal recessive cerebellar ataxia", + "output": "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "hereditary ataxia", + "output": "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements." + }, + { + "input": "spastic ataxia", + "output": "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy." + }, + { + "input": "x-linked hereditary ataxia", + "output": "A hereditary ataxia that is characterized by x-linked inheritance." + }, + { + "input": "spinocerebellar ataxia type 1", + "output": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (cag)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22." + }, + { + "input": "spinocerebellar ataxia type 2", + "output": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the atxn2 gene." + }, + { + "input": "spinocerebellar ataxia type 6", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the cacna1a gene." + }, + { + "input": "spinocerebellar ataxia type 4", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the sca4 gene." + }, + { + "input": "spinocerebellar ataxia type 7", + "output": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the atxn7 gene." + }, + { + "input": "spinocerebellar ataxia type 8", + "output": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the atxn80s gene." + }, + { + "input": "spinocerebellar ataxia type 10", + "output": "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the atxn10 gene." + }, + { + "input": "spinocerebellar ataxia type 11", + "output": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the ttbk2 gene." + }, + { + "input": "spinocerebellar ataxia type 12", + "output": "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in cag expansion of the ppp2r2b gene." + }, + { + "input": "spinocerebellar ataxia type 13", + "output": "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the kcnc3 gene." + }, + { + "input": "spinocerebellar ataxia type 14", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the prkcg gene." + }, + { + "input": "spinocerebellar ataxia type 15", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the itpr1 gene." + }, + { + "input": "spinocerebellar ataxia type 17", + "output": "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in cag repeat expansion in the tbp gene." + }, + { + "input": "autosomal dominant cerebellar ataxia, deafness and narcolepsy", + "output": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the dnmt1 gene." + }, + { + "input": "spinocerebellar ataxia type 18", + "output": "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23." + }, + { + "input": "spinocerebellar ataxia type 19/22", + "output": "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor." + }, + { + "input": "spinocerebellar ataxia type 20", + "output": "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria." + }, + { + "input": "spinocerebellar ataxia type 21", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity." + }, + { + "input": "spinocerebellar ataxia type 23", + "output": "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the pdyn gene." + }, + { + "input": "spinocerebellar ataxia type 25", + "output": "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat cag expansion on chromosome 2p15-p21." + }, + { + "input": "spinocerebellar ataxia type 26", + "output": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the eef2 gene." + }, + { + "input": "spinocerebellar ataxia type 27", + "output": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the fgf14 gene on chromosome 13q33. some patients have heterozygous deletions of chromosome 13q33 affecting the fgf14 and itgbl1 genes, which may thus be considered a contiguous gene deletion syndrome." + }, + { + "input": "spinocerebellar ataxia type 28", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the afg3l2 gene." + }, + { + "input": "spinocerebellar ataxia type 29", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the itpr1 gene." + }, + { + "input": "spinocerebellar ataxia type 30", + "output": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the odz3 gene." + }, + { + "input": "spinocerebellar ataxia type 31", + "output": "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the bean1 gene." + }, + { + "input": "spinocerebellar ataxia type 34", + "output": "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the elovl4 gene." + }, + { + "input": "spinocerebellar ataxia type 35", + "output": "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the tgm6 gene." + }, + { + "input": "spinocerebellar ataxia type 36", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the nop56 gene." + }, + { + "input": "spinocerebellar ataxia type 37", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the dab1 gene." + }, + { + "input": "spinocerebellar ataxia type 38", + "output": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the elovl5 gene." + }, + { + "input": "spinocerebellar ataxia type 40", + "output": "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the ccdc88c gene." + }, + { + "input": "hypomyelinating leukoencephalopathy", + "output": "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of mri abnormalities." + }, + { + "input": "grid2-related spinocerebellar ataxia", + "output": "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss." + }, + { + "input": "episodic ataxia type 1", + "output": "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene kcna1." + }, + { + "input": "episodic ataxia type 2", + "output": "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene cacna1a." + }, + { + "input": "episodic ataxia type 3", + "output": "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "episodic ataxia type 4", + "output": "An episodic ataxia that is characterized by vertigo and diplopia." + }, + { + "input": "episodic ataxia type 5", + "output": "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the cacnb4 gene." + }, + { + "input": "episodic ataxia type 6", + "output": "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the slc1a3 gene." + }, + { + "input": "episodic ataxia type 7", + "output": "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "episodic ataxia type 8", + "output": "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the ubr4 gene." + }, + { + "input": "cerebellar ataxia, mental retardation and dysequlibrium syndrome", + "output": "An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia." + }, + { + "input": "nonprogressive cerebellar ataxia with mental retardation", + "output": "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the camta1 gene." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 10", + "output": "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ano10 gene." + }, + { + "input": "infective endocarditis", + "output": "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents." + }, + { + "input": "withdrawal disorder", + "output": "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol." + }, + { + "input": "c1 inhibitor deficiency", + "output": "A complement deficiency that is a functional deficiency in the complement component c1 inhibitor leading to hereditary angioedema (hae) involving swelling due to leakage of fluid from blood vessels into connective tissue." + }, + { + "input": "autoimmune disease of central nervous system", + "output": "An autoimmune hypersensitivity disease located_in the central nervous system." + }, + { + "input": "autoimmune disease of endocrine system", + "output": "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or t cells against cells and/or tissues in the endocrine system." + }, + { + "input": "cd3zeta deficiency", + "output": "A severe combined immunodeficiency that affects the development and function of t cells." + }, + { + "input": "janus kinase-3 deficiency", + "output": "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the jak3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of b and t immune cells." + }, + { + "input": "mhc class i deficiency", + "output": "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of mhc class i, has_material_basis_in autosomal recessive inheritance of mutation affecting mhc class i production or expression and frequently involves tap1 and tap2 subunits, and is typically asymptomatic in infancy." + }, + { + "input": "omenn syndrome", + "output": "A severe combined immunodeficiency that has_material_basis_in the rag1 and rag2 genes on chromosome 11p and the artemis gene on chromosome 10p. it is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly." + }, + { + "input": "recombinase activating gene 1 deficiency", + "output": "A severe combined immunodeficiency that is the result of a mutation on chromosome 6 rag1 gene involving genetic rearrangement of both the t- and b-lymphocyte receptor genes." + }, + { + "input": "recombinase activating gene 2 deficiency", + "output": "A severe combined immunodeficiency that is the result of a mutation on chromosome 6 rag2 gene involving genetic rearrangement of both the t- and b-lymphocyte receptor genes." + }, + { + "input": "x-linked severe combined immunodeficiency", + "output": "A severe combined immunodeficiency that is a x-linked scid that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (il-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent t- and nk cells and non-functional b-cells." + }, + { + "input": "cd45 deficiency", + "output": "A severe combined immunodeficiency that is an autosomal recessive disease with t and b lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. the point mutation resulted in the alteration of intervening sequence 13 donor splice site. the population of t lymphocytes is diminished and unresponsive to mitogen stimulation. the level of b lymphocyte numbers, serum immunoglobulin decreased with age." + }, + { + "input": "interleukin-7 receptor alpha deficiency", + "output": "A severe combined immunodeficiency that results from defective il7r expression causes t-b+nk+ scid. loss of il-7r function leads to the loss of an antiapoptotic signal, resulting in a loss of t-cell selection in thymus." + }, + { + "input": "cd3delta deficiency", + "output": "A severe combined immunodeficiency that is characterized by the absence of t cells but normal numbers of b cells. cd3d is essential for t cell development." + }, + { + "input": "cd3epsilon deficiency", + "output": "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for t-cell surface glycoprotein cd3epsilon chain precursors. patients with cd3epsilon deficiency have a severe defect in the expression of the t-cell receptor cd3-complex." + }, + { + "input": "cd3gamma deficiency", + "output": "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for t-cell surface glycoprotein cd3gamma chain precursors. patients with cd3gamma deficiency have a severe defect in the expression of the t-cell receptor cd3-complex. affected patients have decreased t-cell numbers and function; b cells are variably affected." + }, + { + "input": "coronin-1a deficiency", + "output": "A severe combined immunodeficiency that is an actin regulator when mutated results in scid through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs." + }, + { + "input": "reticular dysgenesis", + "output": "A severe combined immunodeficiency that is the most severe form of scid and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. it is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions." + }, + { + "input": "dna ligase iv deficiency", + "output": "A combined t cell and b cell immunodeficiency that has_material_basis_in a mutation in the lig4 gene, a dna ligase, encoding a protein essential for v(d)j recombination and dna double-strand break (dsb) repair through nonhomologous end joining (nhej). patients present with immunodeficiency and developmental and growth delay." + }, + { + "input": "cd40 ligand deficiency", + "output": "A combined t cell and b cell immunodeficiency that is a x-linked immunodeficiency with hyperimmunoglobulin m (xhim) affecting isotype switching and is caused by the absence of cd40 ligand which is normally expressed on activated cd4+ t cells. individuals with this mutation are unable to switch from igm to igg, iga and ige." + }, + { + "input": "immunodeficiency with hyper igm type 3", + "output": "A hyper igm syndrome that has_material_basis_in mutation in the tnfrsf5 gene, resulting in type 3 hyper-igm immunodeficiency that is characterized by an inability of b cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation." + }, + { + "input": "lambda 5 deficiency", + "output": "A b cell deficiency that has_material_basis_in mutations in the igll1 gene. lambda 5 mutations can cause a block in b cell development at the transition between the pro-b cell and the pre-b cell stage." + }, + { + "input": "immunoglobulin alpha deficiency", + "output": "A b cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the iga (cd79 alpha) antigen receptor." + }, + { + "input": "immunoglobulin beta deficiency", + "output": "A b cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin a antibody, and has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "agammaglobulinemia 4", + "output": "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the blnk gene on chromosome 10q23.2." + }, + { + "input": "good syndrome", + "output": "A combined t cell and b cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma." + }, + { + "input": "autoimmune disease of exocrine system", + "output": "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 exocrine system." + }, + { + "input": "autoimmune disease of eyes, ear, nose and throat", + "output": "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat." + }, + { + "input": "autoimmune disease of gastrointestinal tract", + "output": "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 gastrointestinal tract." + }, + { + "input": "autoimmune disease of musculoskeletal system", + "output": "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." + }, + { + "input": "autoimmune disease of peripheral nervous system", + "output": "An autoimmune disease of the nervous system 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 peripheral nervous system." + }, + { + "input": "dropped head syndrome", + "output": "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. this syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles." + }, + { + "input": "intrinsic cardiomyopathy", + "output": "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause." + }, + { + "input": "developmental disorder of mental health", + "output": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." + }, + { + "input": "specific developmental disorder", + "output": "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination." + }, + { + "input": "autoimmune disease of skin and connective tissue", + "output": "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 skin and connective tissue." + }, + { + "input": "pervasive developmental disorder", + "output": "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors." + }, + { + "input": "autism spectrum disorder", + "output": "A pervasive developmental disorder that is a spectrum of psychological conditions. the disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior." + }, + { + "input": "atypical autism", + "output": "An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an absence of all the traits necessary for a diagnosis of autism." + }, + { + "input": "sexual health disorder", + "output": "A disease of mental health that involves the impairment in normal sexual functioning." + }, + { + "input": "paraphilia disorder", + "output": "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects." + }, + { + "input": "munchausen by proxy", + "output": "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others." + }, + { + "input": "aphasia", + "output": "A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language." + }, + { + "input": "writing disorder", + "output": "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition." + }, + { + "input": "nosophobia", + "output": "A specific phobia that involves an irrational fear of contracting a disease." + }, + { + "input": "autoimmune disease of urogenital tract", + "output": "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 urogenital tract." + }, + { + "input": "autoimmune disease of blood", + "output": "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 blood." + }, + { + "input": "autoimmune disease of cardiovascular system", + "output": "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 cardiovascular system." + }, + { + "input": "autonomic peripheral neuropathy", + "output": "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence." + }, + { + "input": "popliteal pterygium syndrome", + "output": "A syndrome characterized by abnormal development of the face, skin and genitals. clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. it has_material_basis_in mutations in the irf6 gene on chromosome 1." + }, + { + "input": "hypersensitivity reaction disease", + "output": "An immune system disease that has_material_basis_in abnormal immune responses." + }, + { + "input": "gluten allergy", + "output": "A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance." + }, + { + "input": "lymphoma", + "output": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs." + }, + { + "input": "non-hodgkin lymphoma", + "output": "A lymphoma that is characterized as any kind of lymphoma except hodgkin's lymphoma." + }, + { + "input": "primary cutaneous t-cell non-hodgkin lymphoma", + "output": "A non-hodgkin's lymphoma that has_material_basis_in a mutation of t cells." + }, + { + "input": "familial juvenile hyperuricemic nephropathy", + "output": "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease." + }, + { + "input": "sideroblastic anemia 1", + "output": "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in x-linked inheritance of mutation in the alas2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production." + }, + { + "input": "autosomal recessive pyridoxine-refractory sideroblastic anemia 2", + "output": "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the slc25a38 gene." + }, + { + "input": "pyridoxine-responsive sideroblastic anemia", + "output": "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in x-linked inheritance." + }, + { + "input": "pearson syndrome", + "output": "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction." + }, + { + "input": "nonbacterial thrombotic endocarditis", + "output": "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets." + }, + { + "input": "pre-malignant neoplasm", + "output": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer." + }, + { + "input": "benign neoplasm", + "output": "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize." + }, + { + "input": "lymphatic system cancer", + "output": "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue." + }, + { + "input": "ductal carcinoma in situ", + "output": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells." + }, + { + "input": "estrogen-receptor positive breast cancer", + "output": "A breast cancer that is characterized by the presence of estrogen receptors." + }, + { + "input": "estrogen-receptor negative breast cancer", + "output": "A breast cancer that is characterized by the absence of estrogen receptors." + }, + { + "input": "progesterone-receptor positive breast cancer", + "output": "A breast cancer that is characterized by the presence of progesterone receptors." + }, + { + "input": "progesterone-receptor negative breast cancer", + "output": "A breast cancer that is characterized by the absence of progesterone receptors." + }, + { + "input": "her2-receptor positive breast cancer", + "output": "A breast cancer that is characterized by the presence of her2 receptors." + }, + { + "input": "her2-receptor negative breast cancer", + "output": "A breast cancer that is characterized by the absence of her2 receptors." + }, + { + "input": "triple-receptor negative breast cancer", + "output": "A breast cancer that is characterized by the absence of estrogen, progresterone and her2 receptors." + }, + { + "input": "breast benign neoplasm", + "output": "A thoracic benign neoplasm that is characterized by lack of malignancy." + }, + { + "input": "immune system cancer", + "output": "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system." + }, + { + "input": "cell type benign neoplasm", + "output": "A benign neoplasm that is classified by the type of cell or tissue from which it is derived." + }, + { + "input": "organ system benign neoplasm", + "output": "A benign neoplasm that is classified by the organ system from which it is arising from." + }, + { + "input": "female reproductive organ benign neoplasm", + "output": "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system." + }, + { + "input": "male reproductive organ benign neoplasm", + "output": "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system." + }, + { + "input": "vestibular gland benign neoplasm", + "output": "A female reproductive organ benign neoplasm that is located_in the vestibular gland." + }, + { + "input": "endocrine organ benign neoplasm", + "output": "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body." + }, + { + "input": "central nervous system benign neoplasm", + "output": "A nervous system benign neoplasm that is characterized by lack of malignancy." + }, + { + "input": "cardiovascular organ benign neoplasm", + "output": "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system." + }, + { + "input": "immune system organ benign neoplasm", + "output": "An organ system benign neoplasm located_in the immune system organs." + }, + { + "input": "bone benign neoplasm", + "output": "A connective tissue benign neoplasm that is located_in bone." + }, + { + "input": "uterine benign neoplasm", + "output": "A female reproductive organ benign neoplasm that is located_in the uterus." + }, + { + "input": "sensory organ benign neoplasm", + "output": "A nervous system benign neoplasm that is located_in a sensory organ." + }, + { + "input": "thoracic benign neoplasm", + "output": "An organ system benign neoplam that is located_in the thoracic cavity." + }, + { + "input": "osteoblastoma", + "output": "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas." + }, + { + "input": "musculoskeletal system benign neoplasm", + "output": "An organ system benign neoplasm that is located_in the muscular and skeletal organs." + }, + { + "input": "musculoskeletal system cancer", + "output": "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs." + }, + { + "input": "cartilage cancer", + "output": "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma." + }, + { + "input": "central nervous system embryonal tumor", + "output": "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm." + }, + { + "input": "cerebellar medulloblastoma", + "output": "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull." + }, + { + "input": "brain meningioma", + "output": "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin." + }, + { + "input": "brain glioma", + "output": "A brain cancer that has_material_basis_in glial cells." + }, + { + "input": "vulvar benign neoplasm", + "output": "A female reproductive organ benign neoplasm that is located_in the vulva." + }, + { + "input": "cervical benign neoplasm", + "output": "A female reproductive organ benign neoplasm that is located_in the cervix." + }, + { + "input": "fallopian tube benign neoplasm", + "output": "A female reproductive organ benign neoplasm that is located_in the fallopian tube." + }, + { + "input": "ovarian benign neoplasm", + "output": "A female reproductive organ benign neoplasm that is located_in the ovary." + }, + { + "input": "vaginal benign neoplasm", + "output": "A female reproductive organ benign neoplasm that is located_in the vagina." + }, + { + "input": "nervous system benign neoplasm", + "output": "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system." + }, + { + "input": "sensory system cancer", + "output": "A nervous system cancer that is located in the sensory system." + }, + { + "input": "peritoneal benign neoplasm", + "output": "A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom." + }, + { + "input": "thoracic disease", + "output": "A disease of anatomical entity that is located_in the thoracic cavity." + }, + { + "input": "pharynx cancer", + "output": "A gastrointestinal system cancer that is located_in the pharynx." + }, + { + "input": "integumentary system benign neoplasm", + "output": "An organ system benign neoplasm located_in the integumentary system organs." + }, + { + "input": "integumentary system cancer", + "output": "An organ system cancer that is located_in the skin, hair and nails." + }, + { + "input": "connective tissue benign neoplasm", + "output": "A musculoskeletal system benign neoplasm that is located_in connective tissue." + }, + { + "input": "heavy chain disease", + "output": "A hypersensitivity reaction type iv disease that results from a proliferation of cells producing immunoglobulin heavy chains." + }, + { + "input": "alpha chain disease", + "output": "A heavy chain disease that results from an overproduction of alpha antibodies (iga)." + }, + { + "input": "gamma heavy chain disease", + "output": "A heavy chain disease that results from an overproduction of gamma antibody (igg)." + }, + { + "input": "mu chain disease", + "output": "A heavy chain disease that results from an overproduction of mu antibody (igm)." + }, + { + "input": "delta chain disease", + "output": "A heavy chain disease that results from an overproduction of delta antibody (igd)." + }, + { + "input": "akinetopsia", + "output": "An agnosia that is a loss of motion perception." + }, + { + "input": "alexithymia", + "output": "An agnosia that is a deficiency in understanding, processing, or describing emotions." + }, + { + "input": "amusia", + "output": "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals." + }, + { + "input": "anosognosia", + "output": "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments." + }, + { + "input": "apperceptive agnosia", + "output": "An agnosia that is a loss of the ability to distinguish visual shapes." + }, + { + "input": "apraxia", + "output": "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities." + }, + { + "input": "associative agnosia", + "output": "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them." + }, + { + "input": "auditory agnosia", + "output": "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal." + }, + { + "input": "autotopagnosia", + "output": "An agnosia that is a loss of the ability to orient parts of the body." + }, + { + "input": "color agnosia", + "output": "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it." + }, + { + "input": "cortical deafness", + "output": "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact." + }, + { + "input": "finger agnosia", + "output": "An agnosia that is a loss of the ability to distinguish the fingers on the hand." + }, + { + "input": "form agnosia", + "output": "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details." + }, + { + "input": "integrative agnosia", + "output": "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole." + }, + { + "input": "mirror agnosia", + "output": "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." + }, + { + "input": "pain agnosia", + "output": "An agnosia that is a loss of the ability to perceive and process pain." + }, + { + "input": "phonagnosia", + "output": "An agnosia that is a loss of the ability to recognize familiar voices." + }, + { + "input": "semantic agnosia", + "output": "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object." + }, + { + "input": "simultanagnosia", + "output": "An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time." + }, + { + "input": "social emotional agnosia", + "output": "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction." + }, + { + "input": "astereognosia", + "output": "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight." + }, + { + "input": "tactile agnosia", + "output": "An agnosia that is a loss of the ability to recognize or identify objects by touch alone." + }, + { + "input": "time agnosia", + "output": "An agnosia that is a loss of the ability to comprehend the succession and duration of events." + }, + { + "input": "topographical agnosia", + "output": "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects." + }, + { + "input": "verbal auditory agnosia", + "output": "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful." + }, + { + "input": "visual agnosia", + "output": "An agnosia that is a loss of the ability to visually recognize objects." + }, + { + "input": "visual verbal agnosia", + "output": "An agnosia that is a loss of the ability to comprehending the meaning of written words." + }, + { + "input": "diffuse alopecia areata", + "output": "An alopecia areata that involves diffuse loss of hair over the whole scalp." + }, + { + "input": "acquired metabolic disease", + "output": "A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption." + }, + { + "input": "organic acidemia", + "output": "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids." + }, + { + "input": "childhood spinal muscular atrophy", + "output": "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the smn gene." + }, + { + "input": "kennedy's disease", + "output": "A spinal muscular dystrophy that has_material_basis_in an x-linked recessive expansion of cag triplet repeats (glutamine) in exon 1 of ar gene encoding the androgen receptor." + }, + { + "input": "dentatorubral-pallidoluysian atrophy", + "output": "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of cag triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein." + }, + { + "input": "body dysmorphic disorder", + "output": "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image)." + }, + { + "input": "pain disorder", + "output": "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress." + }, + { + "input": "kleine-levin syndrome", + "output": "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior." + }, + { + "input": "bipolar ll disorder", + "output": "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." + }, + { + "input": "seasonal affective disorder", + "output": "A mental depression that involves presentation of depressive symptoms only during a specific season of the year." + }, + { + "input": "histidinemia", + "output": "A histidine metabolism disease characterized by a deficiency of the enzyme histidase." + }, + { + "input": "benign familial infantile epilepsy", + "output": "An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae." + }, + { + "input": "generalized epilepsy with febrile seizures plus", + "output": "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset." + }, + { + "input": "juvenile absence epilepsy", + "output": "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures." + }, + { + "input": "timothy syndrome", + "output": "A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. the two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the cacna1c gene on chromosome 12p13.33." + }, + { + "input": "gaba aminotransferase deficiency", + "output": "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (gaba), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde." + }, + { + "input": "succinic semialdehyde dehydrogenase deficiency", + "output": "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." + }, + { + "input": "gamma-amino butyric acid metabolism disorder", + "output": "An amino acid metabolic disorder characterized by impairment of the gaba catabolic pathway." + }, + { + "input": "homocarnosinosis", + "output": "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." + }, + { + "input": "familial hemiplegic migraine", + "output": "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). additional features of an aura can include difficulty with speech, confusion, and drowsiness." + }, + { + "input": "renpenning syndrome", + "output": "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows x-linked inheritance and presents most often in males." + }, + { + "input": "colitis", + "output": "An inflammatory bowel disease that involves inflammation located_in colon." + }, + { + "input": "ischemic colitis", + "output": "A colitis caused_by inadequate blood supply to the colon." + }, + { + "input": "microscopic colitis", + "output": "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope." + }, + { + "input": "collagenous colitis", + "output": "A colitis characterized by a distinctive thickening of the subepithelial collagen table." + }, + { + "input": "lymphocytic colitis", + "output": "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)." + }, + { + "input": "clostridium difficile colitis", + "output": "A colitis characterized by an overgrowth of clostridium difficile bacteria." + }, + { + "input": "chemical colitis", + "output": "A colitis caused_by introduction of various chemicals." + }, + { + "input": "diversion colitis", + "output": "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy." + }, + { + "input": "jejunoileitis", + "output": "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas." + }, + { + "input": "ileitis", + "output": "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." + }, + { + "input": "ileocolitis", + "output": "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part." + }, + { + "input": "gastroduodenal crohn's disease", + "output": "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite." + }, + { + "input": "crohn's colitis", + "output": "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus." + }, + { + "input": "amyotrophic lateral sclerosis type 1", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the sod1 gene on chromosome 21. the most common type of familial als." + }, + { + "input": "amyotrophic lateral sclerosis type 2", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2." + }, + { + "input": "amyotrophic lateral sclerosis type 3", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18." + }, + { + "input": "amyotrophic lateral sclerosis type 4", + "output": "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the setx gene on chromosome 9." + }, + { + "input": "amyotrophic lateral sclerosis type 5", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the spg11 gene on chromosome 15q21." + }, + { + "input": "amyotrophic lateral sclerosis type 6", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the fus gene on chromosome 16." + }, + { + "input": "amyotrophic lateral sclerosis type 7", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20." + }, + { + "input": "amyotrophic lateral sclerosis type 9", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ang gene on chromosome 14." + }, + { + "input": "amyotrophic lateral sclerosis type 10", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the tardbp gene on chromosome 1." + }, + { + "input": "amyotrophic lateral sclerosis type 11", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the fig4 gene on chromosome 6." + }, + { + "input": "amyotrophic lateral sclerosis type 12", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the optn gene on chromosome 10." + }, + { + "input": "amyotrophic lateral sclerosis type 13", + "output": "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the atxn2 gene on chromosome 12 contributes to suscepitbility." + }, + { + "input": "frontotemporal dementia and/or amyotrophic lateral sclerosis-6", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the vcp gene on chromosome 9p13." + }, + { + "input": "amyotrophic lateral sclerosis type 15", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ubqln2 gene on chromosome x." + }, + { + "input": "amyotrophic lateral sclerosis type 16", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the sigmar1 gene (setx) on chromosome 9." + }, + { + "input": "amyotrophic lateral sclerosis type 18", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the pfn1 gene on chromosome 17." + }, + { + "input": "amyotrophic lateral sclerosis type 19", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the erbb4 gene on chromosome 2." + }, + { + "input": "amyotrophic lateral sclerosis type 20", + "output": "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the hnrnpa1 gene on chromosome 12." + }, + { + "input": "amyotrophic lateral sclerosis type 21", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the matr3 gene on chromosome 5." + }, + { + "input": "frontotemporal dementia and/or amyotrophic lateral sclerosis-1", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the c9orf72 gene on chromosome 9. it is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." + }, + { + "input": "frontotemporal dementia and/or amyotrophic lateral sclerosis-2", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the chchd10 gene on chromosome 22. it is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis." + }, + { + "input": "balo concentric sclerosis", + "output": "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor." + }, + { + "input": "cogan syndrome", + "output": "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue." + }, + { + "input": "cogan-reese syndrome", + "output": "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma." + }, + { + "input": "crest syndrome", + "output": "A syndrome characterized by calcinosis, raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia." + }, + { + "input": "lymph node adenoid cystic carcinoma", + "output": "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. these structures are typically filled with a mucous-like material or contain abnormal fibrous membranes." + }, + { + "input": "physical urticaria", + "output": "An urticaria induced by external physical influences." + }, + { + "input": "maffucci syndrome", + "output": "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas." + }, + { + "input": "scheie syndrome", + "output": "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan." + }, + { + "input": "agraphia", + "output": "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." + }, + { + "input": "atrial fibrillation", + "output": "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." + }, + { + "input": "3mc syndrome", + "output": "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." + }, + { + "input": "acrofrontofacionasal dysostosis", + "output": "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure." + }, + { + "input": "adams-oliver syndrome", + "output": "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs." + }, + { + "input": "intracranial berry aneurysm", + "output": "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm." + }, + { + "input": "baraitser-winter syndrome", + "output": "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present." + }, + { + "input": "basal ganglia calcification", + "output": "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills." + }, + { + "input": "bruck syndrome", + "output": "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta." + }, + { + "input": "branchiootic syndrome", + "output": "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. mutations of the eya1, six1 and six5 genes are associated with the syndrome." + }, + { + "input": "cardiofaciocutaneous syndrome", + "output": "A rasopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the braf, map2k1, map2kk2 and kras genes." + }, + { + "input": "carpenter syndrome", + "output": "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly." + }, + { + "input": "carnitine palmitoyltransferase ii deficiency", + "output": "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria." + }, + { + "input": "xanthinuria", + "output": "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones." + }, + { + "input": "warburg micro syndrome", + "output": "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism." + }, + { + "input": "van maldergem syndrome", + "output": "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted w-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation." + }, + { + "input": "van der woude syndrome", + "output": "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone." + }, + { + "input": "uv-sensitive syndrome", + "output": "A skin disease characterized by photosensitivity and liver spots (solar lentigines)." + }, + { + "input": "3-m syndrome", + "output": "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities." + }, + { + "input": "synpolydactyly", + "output": "A syndactyly characterized by an increased number of digits; often a result of a mutation in the hoxd13 gene." + }, + { + "input": "stuttering", + "output": "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech." + }, + { + "input": "specific language impairment", + "output": "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors." + }, + { + "input": "mast syndrome", + "output": "A hereditary spastic paraplegia associated with dementia." + }, + { + "input": "masa syndrome", + "output": "A hereditary spastic paraplegia that is 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." + }, + { + "input": "smith-mccort dysplasia", + "output": "A dyggve-melchior-clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest." + }, + { + "input": "simpson-golabi-behmel syndrome type 1", + "output": "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (gpc3) on chromosome xq26." + }, + { + "input": "scoliosis", + "output": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine." + }, + { + "input": "idiopathic scoliosis", + "output": "A scoliosis with no known cause." + }, + { + "input": "sclerosteosis", + "output": "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life." + }, + { + "input": "sclerocornea", + "output": "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea." + }, + { + "input": "scapuloperoneal myopathy", + "output": "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." + }, + { + "input": "robinow syndrome", + "output": "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities." + }, + { + "input": "rippling muscle disease 2", + "output": "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (cav3) on chromosome 3p25." + }, + { + "input": "dowling-degos disease", + "output": "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases." + }, + { + "input": "dyschromatosis symmetrica hereditaria", + "output": "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities." + }, + { + "input": "reticulate acropigmentation of kitamura", + "output": "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." + }, + { + "input": "renal-hepatic-pancreatic dysplasia", + "output": "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth." + }, + { + "input": "ptosis", + "output": "An eye disease characterized by the drooping or falling of the upper or lower eyelid." + }, + { + "input": "congenital ptosis", + "output": "A ptosis characterized by eyelid drop present at birth." + }, + { + "input": "gallbladder disease", + "output": "A gastrointestinal system disease that is located_in the gallbladder." + }, + { + "input": "porencephaly", + "output": "A brain disease that is characterized by encephalomalacia and cystic brain lesions." + }, + { + "input": "pontocerebellar hypoplasia", + "output": "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum." + }, + { + "input": "pontocerebellar hypoplasia type 1a", + "output": "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the vrk1 gene." + }, + { + "input": "pontocerebellar hypoplasia type 1b", + "output": "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the exosc3 gene." + }, + { + "input": "pontocerebellar hypoplasia type 2a", + "output": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the tsen54 gene." + }, + { + "input": "pontocerebellar hypoplasia type 2b", + "output": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the tsen2 gene." + }, + { + "input": "pontocerebellar hypoplasia type 2c", + "output": "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the tsen34 gene." + }, + { + "input": "pontocerebellar hypoplasia type 2d", + "output": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the sepsecs gene." + }, + { + "input": "pontocerebellar hypoplasia type 2e", + "output": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the vps53 gene." + }, + { + "input": "pontocerebellar hypoplasia type 3", + "output": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the pclo gene." + }, + { + "input": "pontocerebellar hypoplasia type 4", + "output": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the tsen54 gene." + }, + { + "input": "pontocerebellar hypoplasia type 5", + "output": "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the tsen54 gene." + }, + { + "input": "pontocerebellar hypoplasia type 6", + "output": "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the rars2 gene." + }, + { + "input": "pontocerebellar hypoplasia type 7", + "output": "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the toe1 gene." + }, + { + "input": "pontocerebellar hypoplasia type 8", + "output": "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the chmp1a gene." + }, + { + "input": "pontocerebellar hypoplasia type 9", + "output": "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the ampd2 gene." + }, + { + "input": "pontocerebellar hypoplasia type 10", + "output": "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the clp1 gene." + }, + { + "input": "primary pigmented nodular adrenocortical disease", + "output": "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules." + }, + { + "input": "photosensitive epilepsy", + "output": "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights." + }, + { + "input": "persistent hyperplastic primary vitreous", + "output": "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development." + }, + { + "input": "peeling skin syndrome", + "output": "A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the tgm5 gene and/or csta gene." + }, + { + "input": "paroxysmal nocturnal hemoglobinuria", + "output": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system." + }, + { + "input": "parietal foramina", + "output": "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the alx4 gene or msx2 gene." + }, + { + "input": "combined oxidative phosphorylation deficiency", + "output": "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction." + }, + { + "input": "cornea plana", + "output": "A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 d." + }, + { + "input": "omodysplasia", + "output": "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism." + }, + { + "input": "ohdo syndrome", + "output": "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability." + }, + { + "input": "blepharophimosis-intellectual disability syndrome, sbbys type", + "output": "A ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability." + }, + { + "input": "oculodentodigital dysplasia", + "output": "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities." + }, + { + "input": "x-linked chondrodysplasia punctata 1", + "output": "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in x-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase e. and is associated with associated with vitamin k-related teratogenicity." + }, + { + "input": "autosomal dominant chondrodysplasia punctata", + "output": "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin k-related teratogenicity, has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "cold-induced sweating syndrome", + "output": "A syndrome that is characterized by profuse sweating induced by cold ambient temperature." + }, + { + "input": "complement component 2 deficiency", + "output": "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the c2 gene." + }, + { + "input": "congenital secretory chloride diarrhea 1", + "output": "A secretory diarrhea that has_material_basis_in mutation in the slc26a3 gene." + }, + { + "input": "complement component 4a deficiency", + "output": "A complement deficiency that is characterized by recurrent bacterial infections, caused by c4a deficiency." + }, + { + "input": "complement component 4b deficiency", + "output": "A complement deficiency that is characterized by recurrent bacterial infections, caused by c4b deficiency." + }, + { + "input": "complement component 6 deficiency", + "output": "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the c6 gene." + }, + { + "input": "complement component 7 deficiency", + "output": "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the c7 gene." + }, + { + "input": "type i complement component 8 deficiency", + "output": "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the c8a gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes." + }, + { + "input": "type ii complement component 8 deficiency", + "output": "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the c8b gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes." + }, + { + "input": "complement component 9 deficiency", + "output": "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the c9 gene." + }, + { + "input": "dyschromatosis universalis hereditaria", + "output": "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution." + }, + { + "input": "megalocornea", + "output": "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the chrdl1 gene." + }, + { + "input": "meier-gorlin syndrome", + "output": "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation." + }, + { + "input": "autosomal dominant intellectual developmental disorder", + "output": "A intellectual disability characterized by an autosomal dominant inheritance pattern." + }, + { + "input": "autosomal recessive intellectual developmental disorder", + "output": "A intellectual disability characterized by an autosomal recessive inheritance pattern." + }, + { + "input": "syndromic x-linked intellectual disability", + "output": "A syndromic intellectual disability characterized by an x-linked inheritance pattern." + }, + { + "input": "uvulitis", + "output": "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size." + }, + { + "input": "adenoid hypertrophy", + "output": "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing." + }, + { + "input": "angular cheilitis", + "output": "A cheilitis characterized by inflammation of one or both of the corners of the mouth." + }, + { + "input": "tracheomalacia", + "output": "A tracheal disease characterized by flaccidity of the tracheal support cartilage." + }, + { + "input": "persistent generalized lymphadenopathy", + "output": "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found." + }, + { + "input": "oral hairy leukoplakia", + "output": "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by epstein-barr virus." + }, + { + "input": "orofaciodigital syndrome i", + "output": "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in x-linked dominant inheritance of the ofd1 gene with lethality in males and is associated with polycystic kidney disease." + }, + { + "input": "lung abscess", + "output": "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid." + }, + { + "input": "acute promyelocytic leukemia", + "output": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17." + }, + { + "input": "cardiac arrest", + "output": "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all." + }, + { + "input": "inguinal hernia", + "output": "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal." + }, + { + "input": "umbilical hernia", + "output": "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles." + }, + { + "input": "mastoiditis", + "output": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process." + }, + { + "input": "breast abscess", + "output": "A breast disease characterized by a collection of pus in the breast." + }, + { + "input": "dental abscess", + "output": "A tooth disease characterized by a localized collection of pus associated with a tooth." + }, + { + "input": "cervical polyp", + "output": "A cervix disease characterized by a benign polyp on the surface of the cervical canal." + }, + { + "input": "myelomeningocele", + "output": "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes." + }, + { + "input": "omphalocele", + "output": "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac." + }, + { + "input": "anal fistula", + "output": "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin." + }, + { + "input": "ectopic pregnancy", + "output": "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity." + }, + { + "input": "rapp-hodgkin syndrome", + "output": "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 2", + "output": "A mitochondrial complex v (atp synthase) deficiency that has_material_basis_in mutation in the tmem70 gene on chromosome 8q21." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 3", + "output": "A mitochondrial complex v (atp synthase) deficiency that has_material_basis_in mutation in the atp5e gene on chromosome 20q13." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 4", + "output": "A mitochondrial complex v (atp synthase) deficiency that has_material_basis_in mutation in the atp5f1a gene on chromosome 18q21.1." + }, + { + "input": "transient neonatal diabetes mellitus", + "output": "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients." + }, + { + "input": "autosomal dominant sideroblastic anemia 4", + "output": "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern." + }, + { + "input": "3-methylglutaconic aciduria", + "output": "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine." + }, + { + "input": "cednik syndrome", + "output": "A syndrome that has_material_basis_in homozygous mutation in the snap29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis." + }, + { + "input": "parameningeal embryonal rhabdomyosarcoma", + "output": "An embryonal rhabdomyosarcoma located in the parameningeal region." + }, + { + "input": "chronic atrial and intestinal dysrhythmia", + "output": "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. it has_material_basis_in the mutated sgol1 protein. distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (sss) and valve anomalies and chronic intestinal pseudo-obstruction (cipo)." + }, + { + "input": "ciliopathy", + "output": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia." + }, + { + "input": "agnathia-otocephaly complex", + "output": "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported." + }, + { + "input": "acromelic frontonasal dysostosis", + "output": "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations." + }, + { + "input": "glucocorticoid-induced osteoporosis", + "output": "An osteoporosis caused by chronic glucocorticoid use. glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption." + }, + { + "input": "acrodermatitis chronica atrophicans", + "output": "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. it is a clinical manifestation of lyme borreliosis." + }, + { + "input": "bacillary angiomatosis", + "output": "A bartonellosis that has_material_basis_in bartonella henselae or has_material_basis_in bartonella quintana. the disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs." + }, + { + "input": "native american myopathy", + "output": "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the stac3 gene on chromosome 12q13." + }, + { + "input": "acrorenal syndrome", + "output": "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes." + }, + { + "input": "hypoparathyroidism-retardation-dysmorphism syndrome", + "output": "A syndrome characterized by permanent parathyroid hormone (pth) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the tbce gene on chromosome 1q42.3." + }, + { + "input": "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", + "output": "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." + }, + { + "input": "adenine phosphoribosyltransferase deficiency", + "output": "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (aprt) on chromosome 16q24." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 2", + "output": "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the ttc19 gene on chromosome 17. it has an autosomal recessive inheritance pattern." + }, + { + "input": "kleefstra syndrome 1", + "output": "A kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the ehmt1 gene located in that region." + }, + { + "input": "acrofacial dysostosis cincinnati type", + "output": "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 that has_material_basis_in heterozygous mutation in the polr1a gene on chromosome 2p11." + }, + { + "input": "stormorken syndrome", + "output": "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. it has_material_basis_in heterozygous mutation in the stm1 gene on chromosome 11p15. it has an autosomal dominant inheritance pattern." + }, + { + "input": "amyotrophic lateral sclerosis type 22", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the tuba4a gene on chromosome 2q35." + }, + { + "input": "vici syndrome", + "output": "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. it has_material_basis_in mutation in the epg5 gene on chromosome 18q12.3." + }, + { + "input": "chylomicron retention disease", + "output": "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin e deficiency and the absence of chylomicrons and apolipoprotein b48 post-prandially. it has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the sar1b gene on chromosome 5q31.1." + }, + { + "input": "multiple acyl-coa dehydrogenase deficiency", + "output": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. it is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. it has_material_basis_in mutations in the etfa, etfb and etfdh genes. it presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type i), a neonatal-onset form without congenital anomalies (type ii), and a late-onset form (type iii). the neonatal-onset forms are usually fatal." + }, + { + "input": "sakati-nyhan syndrome", + "output": "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. the patients suffer from cyanosis and other respiratory and breathing infections." + }, + { + "input": "hereditary papulotranslucent acrokeratoderma", + "output": "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis." + }, + { + "input": "punctate palmoplantar keratoderma", + "output": "A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution." + }, + { + "input": "punctate palmoplantar keratoderma type iii", + "output": "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the aagab gene." + }, + { + "input": "glycerol kinase deficiency", + "output": "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and cns abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the gk gene on chromosome xp21." + }, + { + "input": "galloway-mowat syndrome 1", + "output": "A galloway-mowat syndrome that has_material_basis_in homozygous mutation in the wdr73 gene on chromosome 15q25." + }, + { + "input": "mandibulofacial dysostosis with alopecia", + "output": "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia." + }, + { + "input": "hennekam syndrome", + "output": "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. it is inherited in an autosomal recessive pattern. most individuals with hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. congenital extremity and genital lymphedema is present in most patients." + }, + { + "input": "parkinson's disease 1", + "output": "A late onset parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1." + }, + { + "input": "parkinson's disease 2", + "output": "An early-onset parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27." + }, + { + "input": "parkinson's disease 6", + "output": "An early-onset parkinson's disease that has_material_basis_in mutations in the pink1 gene on chromosome 1p36.12." + }, + { + "input": "parkinson's disease 7", + "output": "An early-onset parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the dj1 gene on chromosome 1p36." + }, + { + "input": "parkinson's disease 8", + "output": "A late onset parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12." + }, + { + "input": "parkinson's disease 15", + "output": "An early-onset parkinson's disease that has_material_basis_in mutation in the fbxo7 gene on chromosome 22q12.3." + }, + { + "input": "orofaciodigital syndrome iii", + "output": "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "orofaciodigital syndrome iv", + "output": "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the tctn3 gene." + }, + { + "input": "orofaciodigital syndrome v", + "output": "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the ddx59 gene on chromosome 1q32." + }, + { + "input": "joubert syndrome with orofaciodigital defect", + "output": "A joubert syndrome that is characterized by orofaciodigital defect." + }, + { + "input": "orofaciodigital syndrome vii", + "output": "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "orofaciodigital syndrome viii", + "output": "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in x-linked recessive inheritance." + }, + { + "input": "acrofacial dysostosis", + "output": "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the sf3b4 gene." + }, + { + "input": "orofaciodigital syndrome x", + "output": "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones." + }, + { + "input": "orofaciodigital syndrome xi", + "output": "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects." + }, + { + "input": "orofaciodigital syndrome ix", + "output": "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "acrofacial dysostosis rodriguez type", + "output": "An acrofacial dysostosis that is characterized by cns malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "acrofacial dysostosis, catania type", + "output": "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias." + }, + { + "input": "acrofacial dysostosis, patagonia type", + "output": "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in x-linked dominant inheritance." + }, + { + "input": "chilblain lupus", + "output": "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the trex1 gene." + }, + { + "input": "chondrodysplasia blomstrand type", + "output": "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the pth1r gene." + }, + { + "input": "chromosomal deletion syndrome", + "output": "A chromosomal disease that has_material_basis_in partial deletion of chromosomes." + }, + { + "input": "chromosome 10q23 deletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2." + }, + { + "input": "distal 10q deletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10." + }, + { + "input": "chromosome 13q14 deletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13." + }, + { + "input": "chromosome 14q11-q22 deletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14." + }, + { + "input": "chromosome 15q11.2 deletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15." + }, + { + "input": "chromosome 15q13.3 microdeletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15." + }, + { + "input": "chromosome 15q24 deletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the sin3a gene causing partial deletion of the long arm of chromosome 15." + }, + { + "input": "chromosome 15q25 deletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15." + }, + { + "input": "chromosome 15q26-qter deletion syndrome", + "output": "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia." + }, + { + "input": "chromosome 16p11.2 deletion syndrome, 220-kb", + "output": "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 mb) encompassing approximately 9 genes, including the sh2b1 gene." + }, + { + "input": "chromosome 16p12.1 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects." + }, + { + "input": "chromosome 16p12.2-p11.2 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment." + }, + { + "input": "chromosome 16q22 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck." + }, + { + "input": "chromosome 17p13.1 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline." + }, + { + "input": "chromosome 17q11.2 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the nf1 gene." + }, + { + "input": "chromosome 17q12 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder." + }, + { + "input": "chromosome 17q23.1-q23.2 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities." + }, + { + "input": "chromosome 18p deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18." + }, + { + "input": "chromosome 18q deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations." + }, + { + "input": "chromosome 19q13.11 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties." + }, + { + "input": "nfia-related disorder", + "output": "A syndrome that has_material_basis_in heterozygous mutation in the nfia gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia." + }, + { + "input": "chromosome 1p36 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears." + }, + { + "input": "chromosome 1q21.1 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems." + }, + { + "input": "chromosome 1q41-q42 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region." + }, + { + "input": "chromosome 22q11.2 deletion syndrome, distal", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from digeorge syndrome and velocardiofacial syndrome." + }, + { + "input": "chromosome 2p12-p11.2 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region." + }, + { + "input": "chromosome 2p16.1-p15 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate." + }, + { + "input": "chromosome 2q31.2 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region." + }, + { + "input": "3p deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia." + }, + { + "input": "chromosome 3q13.31 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia." + }, + { + "input": "chromosome 3q29 microdeletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region." + }, + { + "input": "chromosome 4q21 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region." + }, + { + "input": "chromosome 5q12 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region." + }, + { + "input": "chromosome 6pter-p24 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region." + }, + { + "input": "chromosome 6q11-q14 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate." + }, + { + "input": "chromosome 6q24-q25 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region." + }, + { + "input": "chromosome 8q21.11 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features." + }, + { + "input": "chromosome 19p13.13 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity." + }, + { + "input": "chromosome xp21 deletion syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome xp21 region." + }, + { + "input": "satb2-associated syndrome", + "output": "A syndrome that has_material_basis_in genetic changes that affect the satb2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2." + }, + { + "input": "chromosomal duplication syndrome", + "output": "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region." + }, + { + "input": "chromosome 16p11.2 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language." + }, + { + "input": "chromosome 16p13.3 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region." + }, + { + "input": "chromosome 17p13.3 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region." + }, + { + "input": "chromosome 17q12 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region." + }, + { + "input": "chromosome 17q21.31 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region." + }, + { + "input": "chromosome 1q21.1 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region." + }, + { + "input": "chromosome 22q11.2 microduplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region." + }, + { + "input": "chromosome 22q13 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q13 region." + }, + { + "input": "cole-carpenter syndrome", + "output": "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance." + }, + { + "input": "lysinuric protein intolerance", + "output": "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. it has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene slc7a7 on chromosome 14q11." + }, + { + "input": "epithelial and subepithelial dystrophy", + "output": "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane." + }, + { + "input": "epithelial-stromal tgfbi dystrophy", + "output": "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in tgfbi gene of chromosome 5q." + }, + { + "input": "stromal dystrophy", + "output": "A corneal dystrophy that affects the corneal stroma." + }, + { + "input": "corneal endothelial dystrophy", + "output": "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane." + }, + { + "input": "granular corneal dystrophy 2", + "output": "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface." + }, + { + "input": "congenital stromal corneal dystrophy", + "output": "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth." + }, + { + "input": "x-linked endothelial corneal dystrophy", + "output": "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." + }, + { + "input": "epithelial basement membrane dystrophy", + "output": "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium." + }, + { + "input": "fleck corneal dystrophy", + "output": "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the pikfyve gene on chromosome 2q34." + }, + { + "input": "gelatinous drop-like corneal dystrophy", + "output": "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the tacstd2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen ga733-1, on chromosome 1p32." + }, + { + "input": "lisch epithelial corneal dystrophy", + "output": "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns." + }, + { + "input": "meesmann corneal dystrophy", + "output": "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium." + }, + { + "input": "posterior amorphous corneal dystrophy", + "output": "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome." + }, + { + "input": "reis-bucklers corneal dystrophy", + "output": "An epithelial-stromal tgfbi dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. abnormalities lead to increased protein deposition and disruption especially of bowman's membrane of the cornea." + }, + { + "input": "subepithelial mucinous corneal dystrophy", + "output": "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life." + }, + { + "input": "thiel-behnke corneal dystrophy", + "output": "An epithelial-stromal tgfbi dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. abnormalities lead to increased protein deposition and disruption especially of bowman's membrane of the cornea." + }, + { + "input": "schnyder corneal dystrophy", + "output": "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the ubaid1 gene on chromosome 1p36." + }, + { + "input": "posterior polymorphous corneal dystrophy", + "output": "A corneal dystrophy that is characterized by changes in descemet's membrane and endothelial layer." + }, + { + "input": "chromosome 2q31.1 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region." + }, + { + "input": "chromosome 3q29 microduplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region." + }, + { + "input": "chromosome 5p13 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region." + }, + { + "input": "chromosome xp11.23-p11.22 duplication syndrome", + "output": "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome xp11.23-p11.22 region." + }, + { + "input": "desbuquois dysplasia", + "output": "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx." + }, + { + "input": "nut midline carcinoma", + "output": "A carcinoma that is characterized by a brd4-nut translocation involving the rearrangement of the bromodomain-containing protein 4 (brd4) and the gene encoding nuclear protein of the testis (nut) at 15q14, brd4-nut t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum." + }, + { + "input": "feingold syndrome", + "output": "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation." + }, + { + "input": "fibrochondrogenesis", + "output": "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen." + }, + { + "input": "gingival fibromatosis", + "output": "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa." + }, + { + "input": "humeroradial synostosis", + "output": "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity." + }, + { + "input": "holt-oram syndrome", + "output": "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb." + }, + { + "input": "miller-dieker lissencephaly syndrome", + "output": "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the lis1 gene." + }, + { + "input": "salt and pepper syndrome", + "output": "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the siat9 gene on chromosome 2p11.2." + }, + { + "input": "fetal valproate syndrome", + "output": "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction." + }, + { + "input": "kindler syndrome", + "output": "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling." + }, + { + "input": "kabuki syndrome", + "output": "A syndrome characterized by multiple congenital anomalies and mental retardation. other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects." + }, + { + "input": "familial erythrocytosis 2", + "output": "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the vhl gene (608537) on chromosome 3p25." + }, + { + "input": "myoclonic-atonic epilepsy", + "output": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the slc6a1 gene on chromosome 3p25." + }, + { + "input": "perlman syndrome", + "output": "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to wilms tumor. it shows similarities to beckwith-wiedemann syndrome." + }, + { + "input": "zika fever", + "output": "A viral infectious disease that has_material_basis_in zika virus, which is transmitted_by aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain." + }, + { + "input": "shwachman-diamond syndrome", + "output": "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities." + }, + { + "input": "left ventricular noncompaction", + "output": "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the lv myocardium." + }, + { + "input": "goldberg-shprintzen syndrome", + "output": "A syndrome characterized by intellectual disability, specific facial gestalt and hirschsprung's disease and that has_material_basis_in homozygous mutation in the kiaa1279 gene on chromosome 10q21.1." + }, + { + "input": "oculoauricular syndrome", + "output": "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." + }, + { + "input": "mednik syndrome", + "output": "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. it is cause by homozygous mutation in the ap1s1 gene on chromosome 7q22." + }, + { + "input": "east syndrome", + "output": "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the kcnj10 gene on chromosome 1q23." + }, + { + "input": "mowat-wilson syndrome", + "output": "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the zeb2 gene on chromosome 2q22." + }, + { + "input": "perry syndrome", + "output": "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the dctn1 gene on chromosome 2p13." + }, + { + "input": "pitt-hopkins syndrome", + "output": "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the tcf4 gene in chromosome 18q21." + }, + { + "input": "schimke immuno-osseous dysplasia", + "output": "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. it has_material_basis_in mutations in the smarcal1 gene." + }, + { + "input": "spoan syndrome", + "output": "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the klc2 gene on chromosome 11q13.2." + }, + { + "input": "chicken egg allergy", + "output": "An egg allergy triggered by gallus gallus eggs." + }, + { + "input": "shellfish allergy", + "output": "A food allergy triggered by crustacea or mollusca." + }, + { + "input": "respiratory allergy", + "output": "An allergic disease that is located_in the respiratory tract." + }, + { + "input": "pollen allergy", + "output": "A respiratory allergy triggered by pollen." + }, + { + "input": "timothy grass allergy", + "output": "A pollen allergy triggered by phleum pratense pollen." + }, + { + "input": "autoimmune neuropathy", + "output": "An autoimmune disease of central nervous system caused by an autoimmune response." + }, + { + "input": "drug allergy", + "output": "An allergic disease that is triggered by a drug." + }, + { + "input": "metal allergy", + "output": "An allergic disease that is triggered by a metal." + }, + { + "input": "gastrointestinal allergy", + "output": "An allergic disease that is located_in the gastrointestinal tract." + }, + { + "input": "fruit allergy", + "output": "A food allergy triggered by a plant fruit product." + }, + { + "input": "apple allergy", + "output": "A fruit allergy triggered by malus domestica plant fruit food product." + }, + { + "input": "apricot allergy", + "output": "A fruit allergy triggered by prunus armeniaca plant fruit food product." + }, + { + "input": "cherry allergy", + "output": "A fruit allergy triggered by prunus avium plant fruit food product." + }, + { + "input": "indian plum allergy", + "output": "A fruit allergy triggered by ziziphus mauritiana plant fruit food product." + }, + { + "input": "orange allergy", + "output": "A fruit allergy triggered by citrus sinensis plant fruit food product." + }, + { + "input": "melon allergy", + "output": "A fruit allergy triggered by cucumis melo plant fruit food product." + }, + { + "input": "peach allergy", + "output": "A fruit allergy triggered by prunus persica plant fruit food product." + }, + { + "input": "plum allergy", + "output": "A fruit allergy triggered by prunus domestica plant fruit food product." + }, + { + "input": "tomato allergy", + "output": "A fruit allergy triggered by solanum lycopersicum plant fruit food product." + }, + { + "input": "fish allergy", + "output": "A food allergy triggered by fish." + }, + { + "input": "atlantic cod allergy", + "output": "A fish allergy triggered by gadus morhua." + }, + { + "input": "atlantic salmon allergy", + "output": "A fish allergy triggered by salmo salar." + }, + { + "input": "carp allergy", + "output": "A fish allergy triggered by cyprinus carpio." + }, + { + "input": "zebrafish allergy", + "output": "A fish allergy triggered by danio rerio." + }, + { + "input": "rainbow trout allergy", + "output": "A fish allergy triggered by oncorhynchus mykiss." + }, + { + "input": "beta-lactam allergy", + "output": "A drug allergy triggered by a beta-lactam." + }, + { + "input": "penicillin allergy", + "output": "A beta-lactam allergy triggered by penicillin." + }, + { + "input": "cow milk allergy", + "output": "A milk allergy triggered by bos taurus milk." + }, + { + "input": "goat milk allergy", + "output": "A milk allergy triggered by capra hircus milk." + }, + { + "input": "mollusc allergy", + "output": "A shellfish allergy triggered by mollusca." + }, + { + "input": "crustacean allergy", + "output": "A shellfish allergy triggered by crustacea." + }, + { + "input": "brown shrimp allergy", + "output": "A crustacean allergy triggered by farfantepenaeus aztecus." + }, + { + "input": "crab allergy", + "output": "A crustacean allergy triggered by scylla paramamosain." + }, + { + "input": "indian prawn allergy", + "output": "A crustacean allergy triggered by fenneropenaeus indicus." + }, + { + "input": "tiger prawn allergy", + "output": "A crustacean allergy triggered by penaeus monodon." + }, + { + "input": "white shrimp allergy", + "output": "A crustacean allergy triggered by litopenaeus vannamei." + }, + { + "input": "snail allergy", + "output": "A mollusc allergy triggered by snails." + }, + { + "input": "horned turban snail allergy", + "output": "A snail allergy triggered by the horned turban snail." + }, + { + "input": "latex allergy", + "output": "An allergic disease that is triggered by latex." + }, + { + "input": "hepatoid adenocarcinoma", + "output": "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver." + }, + { + "input": "warsaw breakage syndrome", + "output": "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the ddx11 gene on chromosome 12p11." + }, + { + "input": "mitochondrial complex i deficiency", + "output": "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. among the numerous clinical phenotypes observed are leigh syndrome, leber hereditary optic neuropathy and melas syndrome. it can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded." + }, + { + "input": "mitochondrial complex ii deficiency", + "output": "A mitochondrial metabolism disease characterized by a highly variable phenotype. some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. it has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded sdha gene on chromosome 5p, the nuclear-encoded sdhaf1 gene on chromosome 19q, or the nuclear-encoded sdhd gene on chromosome 11q23." + }, + { + "input": "purpura fulminans", + "output": "A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. it is often fatal." + }, + { + "input": "hermansky-pudlak syndrome 1", + "output": "A hermansky-pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the hps1 gene on chromosome 10q24." + }, + { + "input": "hermansky-pudlak syndrome 2", + "output": "A hermansky-pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3a subunit of the ap3 complex (ap3b1) on chromosome 5q14.1." + }, + { + "input": "hermansky-pudlak syndrome 3", + "output": "A hermasky-pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the hps3 gene on chromosome 3q24." + }, + { + "input": "hermansky-pudlak syndrome 4", + "output": "A hermansky-pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the hps4 gene on chromosome 22q12.1." + }, + { + "input": "hermansky-pudlak syndrome 5", + "output": "A hermansky-pudlak syndrome that has_material_basis_in homozygous mutation in the hps5 gene on chromosome 11p14." + }, + { + "input": "hermansky-pudlak syndrome 6", + "output": "A hermansky-pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the hps6 gene on chromosome 10q24." + }, + { + "input": "hermansky-pudlak syndrome 7", + "output": "A hermansky-pudlak syndrome that has_material_basis_in homozygous mutation in the dtnbp1 gene on chromosome 6p22.3." + }, + { + "input": "hermansky-pudlak syndrome 8", + "output": "A hermansky-pudlak syndrome that has_material_basis_in homozygous mutation in the bloc1s3 gene on chromosome 19q13." + }, + { + "input": "hermansky-pudlak syndrome 9", + "output": "A hermansky-pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (bloc1s6) on chromosome 15q21." + }, + { + "input": "luminal breast carcinoma a", + "output": "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (er), estrogen regulated protein liv-1, and the transcription factors hepatocyte nuclear factor 3, hnf3a, xbp1, and gata 3." + }, + { + "input": "barber-say syndrome", + "output": "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). it is that has_material_basis_in heterozygous mutation in the twist2 gene on chromosome 2q37." + }, + { + "input": "ablepharon macrostomia syndrome", + "output": "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the twist2 gene on chromosome 2q37." + }, + { + "input": "poikiloderma with neutropenia", + "output": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the c16orf57 gene on chromosome 16q13." + }, + { + "input": "kufor-rakeb syndrome", + "output": "An early-onset parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 atpase encoding gene on chromosome 1p36." + }, + { + "input": "ataxia with oculomotor apraxia type 3", + "output": "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the pik3r5 gene on chromosome 17p13." + }, + { + "input": "lethal congenital contracture syndrome", + "output": "A syndrome characterized by congenital nonprogressive joint contractures. the contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." + }, + { + "input": "lethal congenital contracture syndrome 1", + "output": "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mrna export mediator the gle1 gene on chromosome 9q34." + }, + { + "input": "lethal congenital contracture syndrome 2", + "output": "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the erbb3 gene on chromosome 12q13." + }, + { + "input": "anomalous left coronary artery from the pulmonary artery", + "output": "A coronary artery anomaly in which the left coronary artery (lca) branches off the pulmonary artery instead of the aortic sinus." + }, + { + "input": "char syndrome", + "output": "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits." + }, + { + "input": "spinal disease", + "output": "A bone disease that is located_in the spine." + }, + { + "input": "ritscher-schinzel syndrome", + "output": "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (dandy-walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of fallot, atrial and ventricular septal defects) anomalies." + }, + { + "input": "holzgreve-wagner-rehder syndrome", + "output": "A syndrome characterized by potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects." + }, + { + "input": "erythema elevatum diutinum", + "output": "A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks." + }, + { + "input": "hypertrichotic osteochondrodysplasia cantu type", + "output": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly." + }, + { + "input": "cardiac tuberculosis", + "output": "A tuberculosis located in the heart." + }, + { + "input": "ritscher-schinzel syndrome 1", + "output": "A ritscher-schinzel syndrome that has_material_basis_in homozygous mutation in the kiaa0196 gene on chromosome 8q24." + }, + { + "input": "ritscher-schinzel syndrome 2", + "output": "A ritscher-schinzel syndrome that has_material_basis_in mutation in the ccdc22 gene on chromosome xp11." + }, + { + "input": "von willebrand's disease 1", + "output": "A von willebrand's disease characterized by quantitative partial deficiency of circulating vwf that has_material_basis_in heterozygous mutation in the vwf gene on chromosome 12p13." + }, + { + "input": "von willebrand's disease 2", + "output": "A von willebrand's disease characterized by qualitative but not quantitative abnormalities of the vwf protein that has_material_basis_in mutation in the vwf gene which maps to chromosome 12p13." + }, + { + "input": "3mc syndrome 1", + "output": "A 3mc syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (masp1) on chromosome 3q27." + }, + { + "input": "3mc syndrome 2", + "output": "A 3mc syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (colec11) on chromosome 2p25." + }, + { + "input": "3mc syndrome 3", + "output": "A 3mc syndrome that has_material_basis_in a compound heterozygous mutation in the colec10 gene on chromosome 8q24." + }, + { + "input": "noonan syndrome 1", + "output": "A noonan syndrome that has_material_basis_in the ptpn11 gene on chromosome 12q24." + }, + { + "input": "noonan syndrome 2", + "output": "A noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in an autosomal recessive inheritance." + }, + { + "input": "noonan syndrome 3", + "output": "A noonan syndrome that has_material_basis_in heterozygous mutation in the kras gene." + }, + { + "input": "noonan syndrome 4", + "output": "A noonan syndrome that has_material_basis_in heterozygous mutation in the sos1 gene on chromosome 2p22." + }, + { + "input": "noonan syndrome 5", + "output": "A noonan syndrome that has_material_basis_in mutation in the raf1 gene." + }, + { + "input": "noonan syndrome 6", + "output": "A noonan syndrome that has_material_basis_in heterozygous mutation in the nras gene on chromosome 1p13." + }, + { + "input": "noonan syndrome 7", + "output": "A noonan syndrome that has_material_basis_in heterozygous mutation in the braf gene." + }, + { + "input": "noonan syndrome 8", + "output": "A noonan syndrome that has_material_basis_in caused by heterozygous mutation in the rit1 gene on chromosome 1q22." + }, + { + "input": "noonan syndrome 9", + "output": "A noonan syndrome that has_material_basis_in heterozygous mutation in the sos2 gene on chromosome 14q21." + }, + { + "input": "noonan syndrome 10", + "output": "A noonan syndrome that has_material_basis_in heterozygous mutation in the lztr1 gene on chromosome 22q11." + }, + { + "input": "yunis-varon syndrome", + "output": "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. it is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the fig4 gene on chromosome 6q21." + }, + { + "input": "xfe progeroid syndrome", + "output": "A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ercc4 gene on chromosome 16p13." + }, + { + "input": "whim syndrome", + "output": "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the cxcr4 gene on chromosome 2q22." + }, + { + "input": "b-cell adult acute lymphocytic leukemia", + "output": "An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in b lymphocytes." + }, + { + "input": "atypical chronic myeloid leukemia, bcr-abl1 negative", + "output": "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. the neoplastic cells do not have a philadelphia chromosome or the bcr/abl fusion gene." + }, + { + "input": "nance-horan syndrome", + "output": "A syndrome that has_material_basis_in mutation in the nhs gene on chromosome xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies." + }, + { + "input": "alpha-2-plasmin inhibitor deficiency", + "output": "A hemorrhagic disease that has_material_basis_in mutation in the pli gene. it is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes." + }, + { + "input": "alpha-methylacyl-coa racemase deficiency", + "output": "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the amacr gene on chromosome 5p13.2-q11.1." + }, + { + "input": "isolated anhidrosis with normal sweat glands", + "output": "An anhidrosis that has_material_basis_in homozygous mutation in the itpr2 gene on chromosome 12p11." + }, + { + "input": "ankyloglossia", + "output": "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth." + }, + { + "input": "fetal nicotine spectrum disorder", + "output": "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy." + }, + { + "input": "microcephalic osteodysplastic primordial dwarfism type i", + "output": "A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the rnu4atac gene, encoding a small nuclear rna component of the u12-dependent spliceosome, on chromosome 2q14.2." + }, + { + "input": "microcephalic osteodysplastic primordial dwarfism type ii", + "output": "A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the pcnt gene, encoding pericentrin, on chromosome 21q22. it is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly." + }, + { + "input": "megacystis-microcolon-intestinal hypoperistalsis syndrome", + "output": "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis." + }, + { + "input": "abdominal obesity-metabolic syndrome", + "output": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease." + }, + { + "input": "abdominal obesity-metabolic syndrome 3", + "output": "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the dyrk1b gene on chromosome 19q13." + }, + { + "input": "x-linked cleft palate with or without ankyloglossia", + "output": "A cleft palate that has_material_basis_in mutation in the tbx22 gene on chromosome xq21." + }, + { + "input": "ulnar-mammary syndrome", + "output": "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the tbx3 gene." + }, + { + "input": "neonatal diabetes mellitus with congenital hypothyroidism", + "output": "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the glis3 gene on chromosome 9p24." + }, + { + "input": "permanent neonatal diabetes mellitus", + "output": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (gck), heterozygous mutation in the kcnj11 and ins genes, or by heterozygous or homozygous mutation in the abcc8 gene." + }, + { + "input": "ethylmalonic encephalopathy", + "output": "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ethe1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13." + }, + { + "input": "endocrine-cerebro-osteodysplasia syndrome", + "output": "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase." + }, + { + "input": "recessive dystrophic epidermolysis bullosa", + "output": "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type vii collagen (col7a1) on chromosome 3p21." + }, + { + "input": "primary sclerosing cholangitis", + "output": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension." + }, + { + "input": "chondrodysplasia-pseudohermaphroditism syndrome", + "output": "A syndrome characterized by the clinical features of 46,xy complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia." + }, + { + "input": "chronic recurrent multifocal osteomyelitis", + "output": "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." + }, + { + "input": "congenital chylothorax", + "output": "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life." + }, + { + "input": "fetal encasement syndrome", + "output": "A syndrome that has_material_basis_in homozygous mutation in the chuk gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin." + }, + { + "input": "anterior segment dysgenesis", + "output": "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye." + }, + { + "input": "congenital hereditary endothelial dystrophy of cornea", + "output": "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the slc4a11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the descemet membrane." + }, + { + "input": "dicarboxylic aminoaciduria", + "output": "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids." + }, + { + "input": "myh-9 related disease", + "output": "A blood platelet disease that has_material_basis_in mutations in the myh9 gene. it is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract." + }, + { + "input": "familial erythrocytosis 1", + "output": "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. it is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to epo, and low serum levels of epo." + }, + { + "input": "lethal congenital contracture syndrome 3", + "output": "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the pip5k1c gene on chromosome 19p13." + }, + { + "input": "lethal congenital contracture syndrome 4", + "output": "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the mybpc1 gene on chromosome 12q23." + }, + { + "input": "autosomal recessive congenital ichthyosis", + "output": "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization." + }, + { + "input": "autosomal recessive congenital ichthyosis 1", + "output": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the tgm1 gene on chromosome 14q11.2." + }, + { + "input": "anencephaly", + "output": "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp." + }, + { + "input": "cerebral cavernous malformation", + "output": "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support." + }, + { + "input": "cerebral cavernous malformation 2", + "output": "A cerebral cavernous malformation that has_material_basis_in mutation in the ccm2 gene on chromosome 7p13." + }, + { + "input": "cerebral cavernous malformation 3", + "output": "A cerebral cavernous malformation that has_material_basis_in mutation in the pdcd10 gene on chromosome 3q26.1." + }, + { + "input": "grn-related frontotemporal lobar degeneration with tdp43 inclusions", + "output": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of tardbp-positive inclusions that has_material_basis_in mutation in the grn gene on chromosome 17q21.31." + }, + { + "input": "peters anomaly", + "output": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and descemet membrane that has_material_basis_in mutation in the pax6 gene on chromosome 11p13, the pitx2 gene on chromosome 4q25, the cyp1b1 gene on chromosome 2p22.2, or the foxc1 gene on chromosome 6p25.3." + }, + { + "input": "catecholaminergic polymorphic ventricular tachycardia", + "output": "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities." + }, + { + "input": "catecholaminergic polymorphic ventricular tachycardia 1", + "output": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the ryr2 gene on chromosome 1q43." + }, + { + "input": "catecholaminergic polymorphic ventricular tachycardia 2", + "output": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the casq2 gene on chromosome 1p13." + }, + { + "input": "catecholaminergic polymorphic ventricular tachycardia 3", + "output": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14." + }, + { + "input": "catecholaminergic polymorphic ventricular tachycardia 4", + "output": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the calm1 gene on chromosome 14q32." + }, + { + "input": "catecholaminergic polymorphic ventricular tachycardia 5", + "output": "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the trdn gene on chromosome 6q22." + }, + { + "input": "pigment dispersion syndrome", + "output": "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma." + }, + { + "input": "autosomal dominant nocturnal frontal lobe epilepsy", + "output": "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations." + }, + { + "input": "autosomal dominant nocturnal frontal lobe epilepsy 1", + "output": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the chrna4 gene on chromosome 20q13." + }, + { + "input": "autosomal dominant nocturnal frontal lobe epilepsy 2", + "output": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24." + }, + { + "input": "autosomal dominant nocturnal frontal lobe epilepsy 3", + "output": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the chrnb2 gene on chromosome 1q21." + }, + { + "input": "autosomal dominant nocturnal frontal lobe epilepsy 4", + "output": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the chrna2 gene on chromosome 8p21." + }, + { + "input": "autosomal dominant nocturnal frontal lobe epilepsy 5", + "output": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the kcnt1 gene on chromosome 9q34." + }, + { + "input": "arteriovenous malformations of the brain", + "output": "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain." + }, + { + "input": "atrichia with papular lesions", + "output": "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the hr gene on chromosome 8p21.3." + }, + { + "input": "autosomal dominant auditory neuropathy 1", + "output": "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the diaph3 gene on chromosome 13q." + }, + { + "input": "platelet-type bleeding disorder 16", + "output": "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the itga2b gene on chromosome 17q21.31 or the itgb3 gene on chromosome 17q21.32." + }, + { + "input": "platelet-type bleeding disorder 8", + "output": "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the p2ry12 gene on chromosome 3q." + }, + { + "input": "brunner syndrome", + "output": "An amino acid metabolic disorder characterized by recessive x-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the maoa gene on chromosome xp11." + }, + { + "input": "cayman type cerebellar ataxia", + "output": "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the atcay gene on chromosome 19p13.3." + }, + { + "input": "hyperekplexia", + "output": "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia." + }, + { + "input": "hyperekplexia 1", + "output": "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the glra1 gene on chromosome 5q32." + }, + { + "input": "hyperekplexia 2", + "output": "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the glrb gene on chromosome 4q32." + }, + { + "input": "hyperekplexia 3", + "output": "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the slc6a5 gene on chromosome 11p15." + }, + { + "input": "familial hypocalciuric hypercalcemia", + "output": "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion." + }, + { + "input": "familial hypocalciuric hypercalcemia 1", + "output": "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the casr gene on chromosome 3q21." + }, + { + "input": "familial hypocalciuric hypercalcemia 2", + "output": "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the gna11 gene on chromosome 19p13." + }, + { + "input": "familial hypocalciuric hypercalcemia 3", + "output": "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the ap2s1 gene on chromosome 19q13." + }, + { + "input": "muenke syndrome", + "output": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (p250r) heterozygous mutation in the fgfr3 gene on chromosome 4p16.3." + }, + { + "input": "lymphoproliferative syndrome", + "output": "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with epstein-barr viral infection." + }, + { + "input": "x-linked lymphoproliferative syndrome 1", + "output": "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in x-linked mutation in the sh2d1a gene on chromosome xq25." + }, + { + "input": "x-linked lymphoproliferative syndrome 2", + "output": "A lymphoproliferative syndrome characterized by x-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the xiap gene on chromosome xq25." + }, + { + "input": "lymphoproliferative syndrome 1", + "output": "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of epstein-barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the itk gene on chromosome 5q32." + }, + { + "input": "lymphoproliferative syndrome 2", + "output": "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic epstein-barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the cd27 gene on chromosome 12p13." + }, + { + "input": "autosomal recessive congenital ichthyosis 2", + "output": "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the alox12b gene on chromosome 17p13." + }, + { + "input": "autosomal recessive congenital ichthyosis 3", + "output": "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the aloxe3 gene on chromosome 17p13." + }, + { + "input": "autosomal recessive congenital ichthyosis 4a", + "output": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the abca12 gene on chromosome 2q35." + }, + { + "input": "autosomal recessive congenital ichthyosis 4b", + "output": "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the abca12 gene on chromosome 2q35." + }, + { + "input": "autosomal recessive congenital ichthyosis 5", + "output": "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the cyp4f22 gene on chromosome 19p13." + }, + { + "input": "autosomal recessive congenital ichthyosis 6", + "output": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the nipal4 gene on chromosome 5q33." + }, + { + "input": "autosomal recessive congenital ichthyosis 7", + "output": "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1." + }, + { + "input": "autosomal recessive congenital ichthyosis 8", + "output": "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the lipn gene on chromosome 10q23." + }, + { + "input": "autosomal recessive congenital ichthyosis 9", + "output": "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the cers3 gene on chromosome 15q26." + }, + { + "input": "autosomal recessive congenital ichthyosis 10", + "output": "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the pnpla1 gene on chromosome 6p21." + }, + { + "input": "autosomal recessive congenital ichthyosis 11", + "output": "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the st14 gene on chromosome 11q24." + }, + { + "input": "ngly1-deficiency", + "output": "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the ngly1 gene on chromosome 1p24." + }, + { + "input": "torsion dystonia 1", + "output": "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the tor1a gene on chromosome 9q34." + }, + { + "input": "congenital central hypoventilation syndrome", + "output": "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the phox2b gene on chromosome 4p13 and less frequently mutations in the ret, gdnf, edn3, bdnf, or ascl1 genes." + }, + { + "input": "chromosome 9p deletion syndrome", + "output": "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9." + }, + { + "input": "junctional epidermolysis bullosa with pyloric atresia", + "output": "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the itgb4 or itga6 genes." + }, + { + "input": "epidermolysis bullosa simplex dowling-meara type", + "output": "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the krt5 or krt14 genes. this is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases." + }, + { + "input": "epidermolysis bullosa simplex ogna type", + "output": "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the plec1 gene on chromosome 8q24." + }, + { + "input": "junctional epidermolysis bullosa herlitz type", + "output": "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: lama3, lamb3, and lamc2. the herlitz type is more severe than the related non-herlitz type of junctional epidermolysis bullosa." + }, + { + "input": "junctional epidermolysis bullosa non-herlitz type", + "output": "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including col17a1, itgb4 and the 3 genes that encode the subunits of laminin-5: lama3, lamb3, and lamc2. the non-herlitz type is less severe than the related herlitz type of junctional epidermolysis bullosa." + }, + { + "input": "hand-foot-genital syndrome", + "output": "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the hoxa13 gene on chromosome 7p15." + }, + { + "input": "methylmalonic aciduria due to methylmalonyl-coa mutase deficiency", + "output": "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn b12 therapy and that has_material_basis_in mutation in the mut gene on chromosome 6p12.3." + }, + { + "input": "methylmalonic acidemia due to transcobalamin receptor defect", + "output": "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the cd320 gene." + }, + { + "input": "methylmalonic acidemia cbla type", + "output": "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of adocbl, vitamin b12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the mmaa gene on chromosome 4q31." + }, + { + "input": "methylmalonic acidemia cblb type", + "output": "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of adocbl, vitamin b12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the mmab gene on chromosome 12q24." + }, + { + "input": "pendred syndrome", + "output": "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the slc26a4 gene on chromosome 7q." + }, + { + "input": "doyne honeycomb retinal dystrophy", + "output": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the efemp1 gene on chromosome 2p16." + }, + { + "input": "basal laminar drusen", + "output": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on bruch membrane and that has_material_basis_in mutations in the cfh gene on chromosome 1q31.3." + }, + { + "input": "duane-radial ray syndrome", + "output": "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the sall4 gene on chromosome 20q13." + }, + { + "input": "familial temporal lobe epilepsy 1", + "output": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the lgi1 gene on chromosome 10q24." + }, + { + "input": "familial temporal lobe epilepsy 6", + "output": "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26." + }, + { + "input": "familial temporal lobe epilepsy 3", + "output": "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3." + }, + { + "input": "familial temporal lobe epilepsy 7", + "output": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the reln gene on chromosome 7q22." + }, + { + "input": "familial temporal lobe epilepsy 5", + "output": "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the cpa6 gene on chromosome 8q13." + }, + { + "input": "familial temporal lobe epilepsy 4", + "output": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22." + }, + { + "input": "familial temporal lobe epilepsy 8", + "output": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the gal gene on chromosome 11q13." + }, + { + "input": "familial temporal lobe epilepsy 2", + "output": "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3." + }, + { + "input": "sclerosteosis 1", + "output": "A sclerosteosis that has_material_basis_in homozygous mutation in the sost gene on chromosome 17q21." + }, + { + "input": "sclerosteosis 2", + "output": "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the lrp4 gene on chromosome 11p11." + }, + { + "input": "immunodeficiency with hyper-igm type 2", + "output": "A hyper igm syndrome that is characterized by normal or elevated serum igm levels with absence of igg, iga, and ige, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the aicda gene on chromosome 12p13." + }, + { + "input": "immunodeficiency with hyper igm type 5", + "output": "A hyper igm syndrome that is characterized by normal or increased serum igm concentrations associated with low or absent serum igg, iga, and ige concentrations, indicating a defect in the class-switch recombination (csr) process that has_material_basis_in homozygous or compound heterozygous mutation in the ung gene on chromosome 12q23-q24.1." + }, + { + "input": "immunodeficiency with hyper-igm type 4", + "output": "A hyper igm syndrome that is characterized by normal or increased serum igm concentrations associated with low or absent serum igg, iga, and ige concentrations, indicating a defect in the class-switch recombination (csr) process." + }, + { + "input": "familial chronic myelocytic leukemia-like syndrome", + "output": "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the bcr/abl fusion gene (philadelphia chromosome)." + }, + { + "input": "restrictive dermopathy", + "output": "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. most infants die within the first week of life." + }, + { + "input": "x-linked juvenile retinoschisis 1", + "output": "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the rs1 gene on chromosome xp22." + }, + { + "input": "autosomal recessive robinow syndrome", + "output": "A robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ror2 gene on chromosome 9q22." + }, + { + "input": "autosomal dominant robinow syndrome 2", + "output": "A robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the dvl1 gene on chromosome 1p36." + }, + { + "input": "autosomal dominant robinow syndrome 1", + "output": "A robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the wnt5a gene on chromosome 3p." + }, + { + "input": "autosomal dominant robinow syndrome 3", + "output": "A robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the dvl3 gene on chromosome 3q27." + }, + { + "input": "smith-magenis syndrome", + "output": "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the rai1 gene in the same region." + }, + { + "input": "t-cell immunodeficiency, congenital alopecia, and nail dystrophy", + "output": "A severe combined immunodeficiency characterized by congenital alopecia, severe t-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the foxn1 gene on chromosome 17q11-q12." + }, + { + "input": "dextro-looped transposition of the great arteries", + "output": "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle." + }, + { + "input": "multiple types of congenital heart defects 6", + "output": "A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that \\nhas_material_basis_in heterozygous mutation in the gdf1 gene on chromosome 19p13." + }, + { + "input": "cleft lip-palate-ectodermal dysplasia syndrome", + "output": "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the nectin1 gene on chromosome 11q23." + }, + { + "input": "congenital diarrhea", + "output": "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth." + }, + { + "input": "microvillus inclusion disease", + "output": "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the myo5b gene on chromosome 18q21." + }, + { + "input": "congenital diarrhea 5 with tufting enteropathy", + "output": "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the epcam gene on chromosome 2p21." + }, + { + "input": "congenital secretory sodium diarrhea 8", + "output": "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the slc9a3 gene on chromosome 5p15." + }, + { + "input": "congenital diarrhea 7 with exudative enteropathy", + "output": "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the dgat1 gene on chromosome 8q24.3." + }, + { + "input": "congenital malabsorptive diarrhea 4", + "output": "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (neurog3) on chromosome 10q21.3." + }, + { + "input": "congenital diarrhea 6", + "output": "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the gucy2c gene on chromosome 12p12." + }, + { + "input": "congenital secretory sodium diarrhea 3", + "output": "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the spint2 gene on chromosome 19q13." + }, + { + "input": "eec syndrome", + "output": "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)." + }, + { + "input": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3", + "output": "An eec syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the tp63 gene on chromosome 3q28." + }, + { + "input": "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1", + "output": "An eec syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3." + }, + { + "input": "adult-onset autosomal dominant demyelinating leukodystrophy", + "output": "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the cns that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the lmnb1 gene on chromosome 5q." + }, + { + "input": "hypomyelinating leukodystrophy", + "output": "A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in t2 hyperintensity and variable t1 signal on magnetic resonance imaging." + }, + { + "input": "hypomyelinating leukodystrophy 2", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the gjc2 gene on chromosome 1q42." + }, + { + "input": "hypomyelinating leukodystrophy 10", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the pycr2 gene on chromosome 1q42." + }, + { + "input": "hypomyelinating leukodystrophy 4", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the hspd1 gene on chromosome 2q33." + }, + { + "input": "hypomyelinating leukodystrophy 3", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the aimp1 gene on chromosome 4q24." + }, + { + "input": "hypomyelinating leukodystrophy 9", + "output": "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the rars gene on chromosome 5q34." + }, + { + "input": "hypomyelinating leukodystrophy 11", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the polr1c gene on chromosome 6p21." + }, + { + "input": "hypomyelinating leukodystrophy 5", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the fam126a gene on chromosome 7p15." + }, + { + "input": "hypomyelinating leukodystrophy 7", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the polr3a gene on chromosome 10q22." + }, + { + "input": "hypomyelinating leukodystrophy 13", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the c11orf73 gene on chromosome 11q14." + }, + { + "input": "hypomyelinating leukodystrophy 12", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the vps11 gene on chromosome 11q23." + }, + { + "input": "hypomyelinating leukodystrophy 8", + "output": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the polr3b gene on chromosome 12q23." + }, + { + "input": "hypomyelinating leukodystrophy 6", + "output": "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the tubb4a gene on chromosome 19p13." + }, + { + "input": "syndromic x-linked intellectual disability lubs type", + "output": "A syndromic x-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the mecp2 gene on chromosome xq28." + }, + { + "input": "syndromic x-linked intellectual disability 5", + "output": "A syndromic x-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, dandy-walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the ap1s2 gene on chromosome xp22." + }, + { + "input": "mehmo syndrome", + "output": "A syndromic x-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region xp22.13-p21.1." + }, + { + "input": "syndromic x-linked intellectual disability snyder type", + "output": "A syndromic x-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the sms gene on chromosome xp22." + }, + { + "input": "syndromic x-linked intellectual disability 17", + "output": "A syndromic x-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region xp21.1-p11.23." + }, + { + "input": "syndromic x-linked intellectual disability 12", + "output": "A syndromic x-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region xp11." + }, + { + "input": "prieto syndrome", + "output": "A syndromic x-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region xp11-q21." + }, + { + "input": "syndromic x-linked intellectual disability hedera type", + "output": "A syndromic x-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the atp6ap2 gene on chromosome xp11." + }, + { + "input": "syndromic x-linked intellectual disability najm type", + "output": "A syndromic x-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the cask gene on chromosome xp11." + }, + { + "input": "syndromic x-linked intellectual disability 7", + "output": "A syndromic x-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region xp11.3-q22." + }, + { + "input": "syndromic x-linked intellectual disability claes-jensen type", + "output": "A syndromic x-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the kdm5c gene on chromosome xp11." + }, + { + "input": "syndromic x-linked intellectual disability type 10", + "output": "A syndromic x-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the hsd17b10 gene on chromosome xp11.22." + }, + { + "input": "syndromic x-linked intellectual disability turner type", + "output": "A syndromic x-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the huwe1 gene on chromosome xp11.22." + }, + { + "input": "syndromic x-linked intellectual disability siderius type", + "output": "A syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the phf8 gene on chromosome xp11.22." + }, + { + "input": "syndromic x-linked intellectual disability shrimpton type", + "output": "A syndromic x-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region xq12-q21.31." + }, + { + "input": "wilson-turner syndrome", + "output": "A syndromic x-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the las1l gene on chromosome xq12." + }, + { + "input": "miles-carpenter syndrome", + "output": "A syndromic x-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region xq13-q22." + }, + { + "input": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome", + "output": "A syndromic x-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the igbp1 gene on chromosome xq13.1." + }, + { + "input": "syndromic x-linked intellectual disability 34", + "output": "A syndromic x-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the nono gene on chromosome xq13." + }, + { + "input": "syndromic x-linked intellectual disability abidi type", + "output": "A syndromic x-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region xq13.2." + }, + { + "input": "syndromic x-linked intellectual disability chudley-schwartz type", + "output": "A syndromic x-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region xq21.33-q23." + }, + { + "input": "syndromic x-linked intellectual disability nascimento type", + "output": "A syndromic x-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the ube2a gene on chromosome xq24." + }, + { + "input": "syndromic x-linked intellectual disability 14", + "output": "A syndromic x-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the upf3b gene on chromosome xq24." + }, + { + "input": "syndromic x-linked intellectual disability cabezas type", + "output": "A syndromic x-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the cul4b gene on chromosome xq23." + }, + { + "input": "syndromic x-linked intellectual disability 94", + "output": "A syndromic x-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the gria3 gene on chromosome xq25." + }, + { + "input": "syndromic x-linked intellectual disability raymond type", + "output": "A syndromic x-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the zdhhc9 gene on chromosome xq26.1." + }, + { + "input": "christianson syndrome", + "output": "A syndromic x-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the slc9a6 gene on chromosome xq26." + }, + { + "input": "syndromic x-linked intellectual disability shashi type", + "output": "A syndromic x-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the rbmx gene on chromosome xq26." + }, + { + "input": "x-linked intellectual disability-psychosis-macroorchidism syndrome", + "output": "A syndromic x-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the mecp2 gene on chromosome xq28." + }, + { + "input": "x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome", + "output": "A syndromic x-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the clic2 gene on chromosome xq28." + }, + { + "input": "deafness-intellectual disability, martin-probst type syndrome", + "output": "A syndromic x-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the x chromosome." + }, + { + "input": "griscelli syndrome", + "output": "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin." + }, + { + "input": "griscelli syndrome type 1", + "output": "A griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the myo5a gene on chromosome 15q21.2." + }, + { + "input": "griscelli syndrome type 2", + "output": "A griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the rab27a gene on chromosome 15q21.3." + }, + { + "input": "griscelli syndrome type 3", + "output": "A griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the mlph or myo5a genes." + }, + { + "input": "isolated microphthalmia 6", + "output": "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the prss56 gene on chromosome 2q37." + }, + { + "input": "isolated microphthalmia 4", + "output": "An isolated microphthalmia that has_material_basis_in mutation in the gdf6 gene on chromosome 8q22." + }, + { + "input": "isolated microphthalmia 5", + "output": "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on erg, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the mfrp gene on chromosome 11q23." + }, + { + "input": "isolated microphthalmia 7", + "output": "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the gdf3 gene on chromosome 12p13." + }, + { + "input": "isolated microphthalmia 2", + "output": "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the chx10 gene on chromosome 14q24." + }, + { + "input": "isolated microphthalmia 1", + "output": "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32." + }, + { + "input": "isolated microphthalmia 8", + "output": "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the aldh1a3 gene on chromosome 15q26." + }, + { + "input": "isolated microphthalmia 3", + "output": "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the rax gene on chromosome 18q21." + }, + { + "input": "hereditary neuropathy with liability to pressure palsies", + "output": "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the pmp22 gene on chromosome 17p12." + }, + { + "input": "norrie disease", + "output": "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the ndp gene on chromosome xp11." + }, + { + "input": "leri-weill dyschondrosteosis", + "output": "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes shox or shoxy or by deletion of the shox downstream regulatory domain." + }, + { + "input": "developmental and epileptic encephalopathy 9", + "output": "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (pcdh19) on chromosome xq22." + }, + { + "input": "osteoporosis-pseudoglioma syndrome", + "output": "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the lrp5 gene on chromosome 11q13." + }, + { + "input": "annular pancreas", + "output": "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis." + }, + { + "input": "pemphigus vulgaris", + "output": "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance." + }, + { + "input": "pierson syndrome", + "output": "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the lamb2 gene on chromosome 3p21." + }, + { + "input": "potocki-lupski syndrome", + "output": "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2." + }, + { + "input": "autosomal recessive pseudohypoaldosteronism type 1", + "output": "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (enac): scnn1a, scnn1b, or scnn1g." + }, + { + "input": "autosomal dominant pseudohypoaldosteronism type 1", + "output": "A pseudohypoaldosteronism characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the nr3c2 gene on chromosome 4q31." + }, + { + "input": "right atrial isomerism", + "output": "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular av connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the gdf1 gene on chromosome 19p12." + }, + { + "input": "septooptic dysplasia", + "output": "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the hesx1 gene on chromosome 3p14." + }, + { + "input": "hypotonia-cystinuria syndrome", + "output": "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the slc3a1 and prepl genes. the deletion ranges in size from 23.8 to 75.5 kb. itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." + }, + { + "input": "salmonellosis", + "output": "A primary bacterial infectious disease caused by the bacteria of the genus salmonella. it has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. in most cases, the illness lasts four to seven days, and most people recover without treatment." + }, + { + "input": "microphthalmia with limb anomalies", + "output": "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the smoc1 gene on chromosome 14q24." + }, + { + "input": "mal de meleda", + "output": "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the slurp1 gene on chromosome 8q24." + }, + { + "input": "patterned macular dystrophy", + "output": "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped." + }, + { + "input": "patterned macular dystrophy 2", + "output": "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the ctnna1 gene on chromosome 5q31." + }, + { + "input": "patterned macular dystrophy 3", + "output": "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the mapkapk3 gene on chromosome 3p21." + }, + { + "input": "patterned macular dystrophy 1", + "output": "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the prph2 gene on chromosome 6p21." + }, + { + "input": "macrocephaly-autism syndrome", + "output": "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the pten gene on chromosome 10q23." + }, + { + "input": "leukoencephalopathy with vanishing white matter", + "output": "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood." + }, + { + "input": "late-onset retinal degeneration", + "output": "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the c1qtnf5 gene on chromosome 11q23." + }, + { + "input": "isolated growth hormone deficiency", + "output": "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones." + }, + { + "input": "autosomal dominant keratitis-ichthyosis-deafness syndrome", + "output": "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the gjb2 gene on chromosome 13q." + }, + { + "input": "isolated growth hormone deficiency type ii", + "output": "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of gh1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the gh1 gene on chromosome 17q23.3." + }, + { + "input": "isolated growth hormone deficiency type ia", + "output": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the gh1 gene on chromosome 17q23.3." + }, + { + "input": "isolated growth hormone deficiency type ib", + "output": "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of gh, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the gh1 or ghrhr genes on chromosomes 17q23.3 and 7p14.3, respectively." + }, + { + "input": "isolated growth hormone deficiency type iii", + "output": "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the btk gene on chromosome xq22.1." + }, + { + "input": "bullous congenital ichthyosiform erythroderma", + "output": "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the krt2 gene on chromosome 12q13." + }, + { + "input": "hypoparathyroidism-deafness-renal disease syndrome", + "output": "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the gata3 gene on chromosome 10p14." + }, + { + "input": "primary hypomagnesemia", + "output": "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life." + }, + { + "input": "renal hypomagnesemia 3", + "output": "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary ca(2+) and mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the cldn16 gene on chromosome 3q28." + }, + { + "input": "renal hypomagnesemia 5 with ocular involvement", + "output": "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the cldn19 gene on chromosome 1p34.2." + }, + { + "input": "renal hypomagnesemia 4", + "output": "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in variation in the chromosome region 4q25." + }, + { + "input": "intestinal hypomagnesemia 1", + "output": "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the trpm6 gene on chromosome 9q21." + }, + { + "input": "renal hypomagnesemia 6", + "output": "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the cnnm2 gene on chromosome 10q24." + }, + { + "input": "renal hypomagnesemia 2", + "output": "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the fxyd2 gene on chromosome 11q23." + }, + { + "input": "osteopathia striata with cranial sclerosis", + "output": "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the amer1 gene on chromosome xq11." + }, + { + "input": "ossification of the posterior longitudinal ligament of spine", + "output": "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia." + }, + { + "input": "transient myeloproliferative syndrome", + "output": "A myeloproliferative neoplasm characterized by leukocytosis in newborns with down syndrome." + }, + { + "input": "prune belly syndrome", + "output": "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the chrm3 gene on chromosome 1q43." + }, + { + "input": "ectopic cushing syndrome", + "output": "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone." + }, + { + "input": "parkinson's disease 19a", + "output": "An early-onset parkinson's diseas that has_material_basis_in homozygous mutation in the dnajc6 gene on chromosome 1p31." + }, + { + "input": "late onset parkinson's disease", + "output": "A parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." + }, + { + "input": "juvenile-onset parkinson's disease", + "output": "An early-onset parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age." + }, + { + "input": "early-onset parkinson's disease", + "output": "A parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age." + }, + { + "input": "parkinson's disease 4", + "output": "A late onset parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22." + }, + { + "input": "parkinson's disease 23", + "output": "An early-onset parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the vps13c gene on chromosome 15q22." + }, + { + "input": "parkinson's disease 17", + "output": "A late-onset parkinson disease that has_material_basis_in heterozygous mutation in the vps35 gene on chromosome 16q13." + }, + { + "input": "parkinson's disease 20", + "output": "An early-onset parkinson disease that has_material_basis_in homozygous mutation in the synj1 gene on chromosome 21q22." + }, + { + "input": "parkinson's disease 14", + "output": "A late-onset parkinson disease that has_material_basis_in homozygous mutation in the pla2g6 gene on chromosome 22q13." + }, + { + "input": "lymphoplasmacytic lymphoma", + "output": "A b-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin m (igm) monoclonal protein." + }, + { + "input": "norman-roberts syndrome", + "output": "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (reln) on chromosome 7q22." + }, + { + "input": "thrombosis", + "output": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system." + }, + { + "input": "legume allergy", + "output": "A fruit allergy triggered by fabaceae (legume) plant fruit or seed food product." + }, + { + "input": "karyomegalic interstitial nephritis", + "output": "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the fan1 gene on chromosome 15q13.3." + }, + { + "input": "craniosynostosis 7", + "output": "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the smad6 gene on chromosome 15q22, typically with the risk allele of a common variant near the bmp2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation." + }, + { + "input": "proteosome-associated autoinflammatory syndrome", + "output": "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications." + }, + { + "input": "proteosome-associated autoinflammatory syndrome 2", + "output": "A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the pomp gene on chromosome 13q12." + }, + { + "input": "proteosome-associated autoinflammatory syndrome 4", + "output": "A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the psmg2 gene on chromosome 18p11." + }, + { + "input": "proteasome-associated autoinflammatory syndrome 3", + "output": "A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type i interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the psmb4 gene on chromosome 1q21 or a heterozygous mutation in the psmb4 gene and a heterozygous mutation in the psmb9 gene on chromosome 6p21." + }, + { + "input": "facioscapulohumeral muscular dystrophy 3", + "output": "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the lrif1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for dux4 expression." + }, + { + "input": "facioscapulohumeral muscular dystrophy 4", + "output": "A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the dnmt3b gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for dux4 expression." + }, + { + "input": "proteosome-associated autoinflammatory syndrome 5", + "output": "A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the psmb10 gene on chromosome 16q22." + }, + { + "input": "otosclerosis 1", + "output": "An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (otsc1) on chromosome 15q26.1." + }, + { + "input": "otosclerosis 2", + "output": "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (otsc2) on chromosome 7q." + }, + { + "input": "otosclerosis 3", + "output": "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (otsc3) on loci chromosome 6p." + }, + { + "input": "otosclerosis 4", + "output": "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (otsc4) on loci chromosome 16q." + }, + { + "input": "otosclerosis 5", + "output": "An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (otsc5) on loci 3q22-q24." + }, + { + "input": "otosclerosis 7", + "output": "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (otsc7) on loci chromosome 6q13." + }, + { + "input": "otosclerosis 8", + "output": "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (otsc8) on loci chromosome 9p13.1-q21.11." + }, + { + "input": "otosclerosis 10", + "output": "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (otsc10) on loci chromosome 1q41-q44." + }, + { + "input": "otosclerosis 11", + "output": "An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with forkhead box l1 gene (foxl1) on chromosome 16q24." + }, + { + "input": "non-syndromic x-linked intellectual developmental disorder 111", + "output": "A non-syndromic x-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the slitrk2 gene on chromosome xq27." + }, + { + "input": "3-methylglutaconic aciduria type 8", + "output": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the htra2 gene on chromosome 2p13." + }, + { + "input": "3-methylglutaconic aciduria type 9", + "output": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the timm50 gene on chromosome 19q13." + }, + { + "input": "blastoma", + "output": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells." + }, + { + "input": "myeloid neoplasm", + "output": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages." + }, + { + "input": "seckel syndrome 9", + "output": "A seckel syndrome that has_material_basis_in homozygous mutation in the traip gene on chromosome 3p21." + }, + { + "input": "seckel syndrome 6", + "output": "A seckel syndrome that has_material_basis_in homozygous mutation in the cep63 gene on chromosome 3q22." + }, + { + "input": "seckel syndrome 1", + "output": "A seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the atr gene on chromosome 3q23." + }, + { + "input": "seckel syndrome 10", + "output": "A seckel syndrome that has_material_basis_in compound heterozygous mutation in the nsmce2 gene on chromosome 8q24." + }, + { + "input": "seckel syndrome 8", + "output": "A seckel syndrome that has_material_basis_in homozygous mutation in the dna2 gene on chromosome 10q21." + }, + { + "input": "seckel syndrome 4", + "output": "A seckel syndrome that has_material_basis_in homozygous mutation in the cenpj gene on chromosome 13q12." + }, + { + "input": "seckel syndrome 7", + "output": "A seckel syndrome that has_material_basis_in compound heterozygous mutation in the nin gene on chromosome 14q22." + }, + { + "input": "seckel syndrome 5", + "output": "A seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the cep152 gene on chromosome 15q21." + }, + { + "input": "seckel syndrome 2", + "output": "A seckel syndrome that has_material_basis_in homozygous mutation in the rbbp8 gene on chromosome 18q11." + }, + { + "input": "autosomal dominant dyskeratosis congenita 1", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the terc gene on chromosome 3q26.2." + }, + { + "input": "autosomal recessive dyskeratosis congenita 1", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the nola3 gene on chromosome 15q14." + }, + { + "input": "autosomal dominant dyskeratosis congenita 2", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the tert gene on chromosome 5p15.33." + }, + { + "input": "autosomal recessive dyskeratosis congenita 2", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the nola2 gene on chromosome 5q35.3." + }, + { + "input": "autosomal dominant dyskeratosis congenita 3", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the tinf2 gene on chromosome 14q12." + }, + { + "input": "autosomal recessive dyskeratosis congenita 3", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the wrap53 gene on chromosome 17p13.1." + }, + { + "input": "autosomal dominant dyskeratosis congenita 4", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the rtel1 gene on chromosome 20q13.33." + }, + { + "input": "autosomal recessive dyskeratosis congenita 4", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the tert gene on chromosome 5p15.33." + }, + { + "input": "autosomal recessive dyskeratosis congenita 5", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the rtel1 gene on chromosome 20q13.33." + }, + { + "input": "autosomal dominant dyskeratosis congenita 6", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of acd on chromosome 16q22.1." + }, + { + "input": "autosomal recessive dyskeratosis congenita 6", + "output": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the parn gene on chromosome 16p13.12." + }, + { + "input": "x-linked dyskeratosis congenita", + "output": "A dyskeratosis congenita that has_material_basis_in an x-linked recessive mutation of the dkc1 gene on chromosome xq28." + }, + { + "input": "revesz syndrome", + "output": "A dyskeratosis congenita that has_material_basis_in a mutation of the tinf2 gene on chromosome 14q12." + }, + { + "input": "cst3-related cerebral amyloid angiopathy", + "output": "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the cst3 gene on chromosome 20p11.21." + }, + { + "input": "app-related cerebral amyloid angiopathy", + "output": "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of app on chromosome 21q21.3." + }, + { + "input": "itm2b-related cerebral amyloid angiopathy 1", + "output": "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of the itm2b gene on chromosome 13q14.2." + }, + { + "input": "itm2b-related cerebral amyloid angiopathy 2", + "output": "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the itm2b gene on chromosome 13q14.2." + }, + { + "input": "autosomal dominant intellectual developmental disorder 1", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the mbd5 gene on chromosome 2q23.1." + }, + { + "input": "autosomal dominant intellectual developmental disorder 2", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the dock8 gene on chromosome 9p24." + }, + { + "input": "autosomal dominant intellectual developmental disorder 3", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the cdh15 gene on chromosome 16q24.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 4", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the kirrel3 gene on chromosome 11q24.2." + }, + { + "input": "autosomal dominant intellectual developmental disorder 5", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the syngap1 gene on chromosome 6p21.32." + }, + { + "input": "autosomal dominant intellectual developmental disorder 6", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the grin2b gene on chromosome 12p13.1." + }, + { + "input": "autosomal dominant intellectual developmental disorder 7", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the dyrk1a gene on chromosome 21q22.13." + }, + { + "input": "autosomal dominant intellectual developmental disorder 8", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the grin1 gene on chromosome 9q34.3." + }, + { + "input": "nescav syndrome", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the kif1a gene on chromosome 2q37.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 10", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the cacng2 gene on chromosome 22q12.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 11", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the epb41l1 gene on chromosome 20q11.23." + }, + { + "input": "coffin-siris syndrome 1", + "output": "A coffin-siris syndrome that has_material_basis_in an autosomal dominant mutation of the arid1b gene on chromosome 6q25.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 13", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the dync1h1 gene on chromosome 14q32.31." + }, + { + "input": "coffin-siris syndrome 2", + "output": "A coffin-siris syndrome that has_material_basis_in an autosomal dominant mutation of the arid1a gene on chromosome 1p36.11." + }, + { + "input": "coffin-siris syndrome 3", + "output": "A coffin-siris syndrome that has_material_basis_in an autosomal dominant mutation of the smarcb1 gene on chromosome 22q11.23." + }, + { + "input": "coffin-siris syndrome 4", + "output": "A coffin-siris syndrome that has_material_basis_in an autosomal dominant mutation of the smarca4 gene on chromosome 19p13.2." + }, + { + "input": "schuurs-hoeijmakers syndrome", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the pacs1 gene on chromosome 11q13.1-q13.2." + }, + { + "input": "gand syndrome", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the gatad2b gene on chromosome 1q21.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 19", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ctnnb1 gene on chromosome 3p22.1." + }, + { + "input": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the mef2c gene on chromosome 5q14.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 21", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ctcf gene on chromosome 16q22.1." + }, + { + "input": "autosomal dominant intellectual developmental disorder 22", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the zbtb18 gene on chromosome 1q44." + }, + { + "input": "autosomal dominant intellectual developmental disorder 23", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the setd5 gene on chromosome 3p25.3." + }, + { + "input": "vulto-van silfout-de vries syndrome", + "output": "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the deaf1 gene on chromosome 11p15.5." + }, + { + "input": "xia-gibbs syndrome", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ahdc1 gene on chromosome 1p36.1-p35.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 26", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the auts2 gene on chromosome 7q11.22." + }, + { + "input": "coffin-siris syndrome 9", + "output": "An coffin-siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the sox11 gene on chromosome 2p25.2." + }, + { + "input": "helsmoortel-van der aa syndrome", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the adnp gene on chromosome 20q13.13." + }, + { + "input": "autosomal dominant intellectual developmental disorder 29", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the setbp1 gene on chromosome 18q12.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 30", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the zmynd11 gene on chromosome 10p15.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 31", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the pura gene on chromosome 5q31.3." + }, + { + "input": "arboleda-tham syndrome", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the kat6a gene on chromosome 8p11.21." + }, + { + "input": "autosomal dominant intellectual developmental disorder 33", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the dpp6 gene on chromosome 7q36.2." + }, + { + "input": "autosomal dominant intellectual developmental disorder 34", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the cert1 gene on chromosome 5q13.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 35", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ppp2r5d gene on chromosome 6p21.1." + }, + { + "input": "autosomal dominant intellectual developmental disorder 36", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ppp2r1a gene on chromosome 19q13.41." + }, + { + "input": "white-sutton syndrome", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the pogz gene on chromosome 1q21.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 38", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the eef1a2 gene on chromosome 20q13.33." + }, + { + "input": "autosomal dominant intellectual developmental disorder 39", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the myt1l gene on chromosome 2p25.3." + }, + { + "input": "autosomal dominant intellectual developmental disorder 40", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the champ1 gene on chromosome 13q34." + }, + { + "input": "autosomal dominant intellectual developmental disorder 41", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the tbl1xr1 gene on chromosome 3q26.32." + }, + { + "input": "autosomal dominant intellectual developmental disorder 42", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the gnb1 gene on chromosome 1p36.33." + }, + { + "input": "autosomal dominant intellectual developmental disorder 43", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the hivep2 gene on chromosome 6q24.2." + }, + { + "input": "autosomal dominant intellectual developmental disorder 44", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the trio gene on chromosome 5p15.2." + }, + { + "input": "schizophrenia 1", + "output": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the sczd1 gene on chromosome 5q23-q35." + }, + { + "input": "schizophrenia 2", + "output": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the sczd2 gene on chromosome 11q14-q21." + }, + { + "input": "schizophrenia 3", + "output": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the sczd3 gene on chromosome 6p23." + }, + { + "input": "schizophrenia 4", + "output": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the prodh gene on chromosome 22q11.21." + }, + { + "input": "schizophrenia 5", + "output": "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26." + }, + { + "input": "schizophrenia 6", + "output": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the sczd6 gene on chromosome 8p21." + }, + { + "input": "schizophrenia 7", + "output": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the sczd7 gene on chromosome 13q32." + }, + { + "input": "schizophrenia 8", + "output": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the sczd8 gene on chromosome 18p." + }, + { + "input": "schizophrenia 9", + "output": "A schizophrenia that has_material_basis_in a mutation of the disc1 gene on chromosome 1q42.2." + }, + { + "input": "schizophrenia 10", + "output": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the sczd10 gene on chromosome 15q15." + }, + { + "input": "schizophrenia 11", + "output": "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3." + }, + { + "input": "schizophrenia 12", + "output": "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2." + }, + { + "input": "schizophrenia 13", + "output": "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13." + }, + { + "input": "schizophrenia 14", + "output": "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1." + }, + { + "input": "schizophrenia 15", + "output": "A schizophrenia that has_material_basis_in a mutation of the shank3 gene on chromosome 22q13.33." + }, + { + "input": "schizophrenia 16", + "output": "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3." + }, + { + "input": "schizophrenia 18", + "output": "A schizophrenia that has_material_basis_in a mutation of the slc1a1 gene on chromosome 9p24.2." + }, + { + "input": "oculocutaneous albinism type ia", + "output": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of tyr on chromosome 11q14.3 with no residual protein activity." + }, + { + "input": "oculocutaneous albinism type ib", + "output": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of tyr on chromosome 11q14.3 with retention of some residual protein activity." + }, + { + "input": "oculocutaneous albinism type ii", + "output": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the oca2 gene on chromosome 15q12-q13." + }, + { + "input": "oculocutaneous albinism type iii", + "output": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the tyrp1 gene on chromosome 9p23." + }, + { + "input": "oculocutaneous albinism type iv", + "output": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the slc45a2 gene on chromosome 5p13.2." + }, + { + "input": "oculocutaneous albinism type v", + "output": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the oca5 gene on chromosome 4q24." + }, + { + "input": "oculocutaneous albinism type vii", + "output": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of c10orf11 on chromosome 10q22.2-q22.3." + }, + { + "input": "niemann-pick disease type a", + "output": "A niemann-pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the smpd1 gene on chromosome 11p15.4." + }, + { + "input": "niemann-pick disease type b", + "output": "A niemann-pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the smpd1 gene on chromosome 11p15.4." + }, + { + "input": "niemann-pick disease type c1", + "output": "A niemann-pick disease that has_material_basis_in an autosomal recessive mutation of the npc1 gene on chromosome 18q11.2." + }, + { + "input": "niemann-pick disease type c2", + "output": "A niemann-pick disease that has_material_basis_in an autosomal recessive mutation of the npc2 gene on chromosome 14q24.3." + }, + { + "input": "meckel syndrome 1", + "output": "A meckel syndrome that has_material_basis_in an autosomal recessive mutation of the mks1 gene on chromosome 17q22." + }, + { + "input": "meckel syndrome 2", + "output": "A meckel syndrome that has_material_basis_in an autosomal recessive mutation of the tmem216 gene on chromosome 11q12.2." + }, + { + "input": "meckel syndrome 3", + "output": "A meckel syndrome that has_material_basis_in an autosomal recessive mutation of the tmem67 gene on chromosome 8q22.1." + }, + { + "input": "meckel syndrome 4", + "output": "A meckel syndrome that has_material_basis_in an autosomal recessive mutation of the cep290 gene on chromosome 12q21.32." + }, + { + "input": "meckel syndrome 5", + "output": "A meckel syndrome that has_material_basis_in an autosomal recessive mutation of the rpgrip1l gene on chromosome 16q12.2." + }, + { + "input": "meckel syndrome 6", + "output": "A meckel syndrome that has_material_basis_in an autosomal recessive mutation of the cc2d2a gene on chromosome 4p15.32." + }, + { + "input": "meckel syndrome 7", + "output": "A meckel syndrome that has_material_basis_in an autosomal recessive mutation of the nphp3 gene on chromosome 3q22.1." + }, + { + "input": "meckel syndrome 8", + "output": "A meckel syndrome that has_material_basis_in an autosomal recessive mutation of the tctn2 gene on chromosome 12q24.31." + }, + { + "input": "congenital nongoitrous hypothyroidism 4", + "output": "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in tsh synthesis that has_material_basis_in homozygous mutation in the tshb gene on chromosome 1p13." + }, + { + "input": "congenital nongoitrous hypothyroidism 2", + "output": "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the pax8 gene on chromosome 2q13." + }, + { + "input": "congenital nongoitrous hypothyroidism 5", + "output": "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the nkx2-5 gene on chromosome 5q35." + }, + { + "input": "congenital nongoitrous hypothyroidism 1", + "output": "A congenital hypothyroidism that has_material_basis_in mutation in the tshr gene on chromosome 14q31." + }, + { + "input": "congenital nongoitrous hypothyroidism 3", + "output": "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1." + }, + { + "input": "congenital nongoitrous hypothyroidism 6", + "output": "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the thra gene on chromosome 17q21.1." + }, + { + "input": "autosomal recessive cutis laxa type iid", + "output": "An autosomal recessive cutis laxa type ii classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the atp6v1a gene on chromosome 3q13." + }, + { + "input": "autosomal dominant cutis laxa 1", + "output": "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the eln gene on chromosome 7q11." + }, + { + "input": "autosomal dominant cutis laxa 3", + "output": "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the aldh18a1 gene on chromosome 10q24." + }, + { + "input": "autosomal recessive cutis laxa type iiia", + "output": "A autosomal recessive cutis laxa type iii that has_material_basis_in homozygous mutation in the aldh18a1 gene on chromosome 10q24." + }, + { + "input": "autosomal recessive cutis laxa type ib", + "output": "An autosomal recessive cutis laxa type i characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the efemp2 gene on chromosome 11q13." + }, + { + "input": "autosomal recessive cutis laxa type iia", + "output": "An autosomal recessive cutis laxa type ii classic type that has_material_basis_in homozygous or compound heterozygous mutations in the atp6v0a2 gene on chromosome 12q24." + }, + { + "input": "autosomal recessive cutis laxa type ia", + "output": "An autosomal recessive cutis laxa type i that has_material_basis_in homozygous or compound heterozygous mutation in the fbln5 gene on chromosome 14q32." + }, + { + "input": "autosomal dominant cutis laxa 2", + "output": "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the fbln5 gene on chromosome 14q32." + }, + { + "input": "autosomal recessive cutis laxa type iib", + "output": "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the pycr1 gene on chromosome 17q25.3." + }, + { + "input": "autosomal recessive cutis laxa type iiib", + "output": "An autosomal recessive cutis laxa type iii that has_material_basis_in homozygous or compound heterozygous mutation in the pycr1 gene on chromosome 17q25." + }, + { + "input": "autosomal recessive cutis laxa type ic", + "output": "A autosomal recessive cutis laxa type i that has_material_basis_in homozygous or compound heterozygous mutation in the ltbp4 gene on chromosome 19q13." + }, + { + "input": "autosomal recessive cutis laxa type iic", + "output": "An autosomal recessive cutis laxa type ii classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the atp6v1e1 gene on chromosome 22q11." + }, + { + "input": "autosomal recessive cutis laxa type ii classic type", + "output": "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia." + }, + { + "input": "autosomal dominant cutis laxa", + "output": "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity." + }, + { + "input": "autosomal recessive cutis laxa type iii", + "output": "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract." + }, + { + "input": "autosomal recessive cutis laxa type i", + "output": "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 5", + "output": "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the ngf gene on chromosome 1p13." + }, + { + "input": "hereditary sensory neuropathy type 4", + "output": "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ntrk1 gene on chromosome 1q23." + }, + { + "input": "hereditary sensory neuropathy type 2c", + "output": "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the kif1a gene on chromosome 2q37." + }, + { + "input": "hereditary sensory neuropathy type 1b", + "output": "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 7", + "output": "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the scn11a gene on chromosome 3p22." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 2b", + "output": "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the fam134b gene on chromosome 5p15." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 6", + "output": "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the dst gene on chromosome 6p12." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 1a", + "output": "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the sptlc1 gene on chromosome 9q22." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 8", + "output": "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the prdm12 gene on chromosome 9q34." + }, + { + "input": "hereditary sensory neuropathy type 1f", + "output": "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the atl3 gene on chromosome 11q13." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 2a", + "output": "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the hsn2 isoform of the wnk1 gene on chromosome 12p13." + }, + { + "input": "hereditary sensory neuropathy type 1d", + "output": "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the atl1 gene on chromosome 14q." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 1c", + "output": "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the sptlc2 gene on chromosome 14q24." + }, + { + "input": "hereditary sensory neuropathy type 1e", + "output": "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the dnmt1 gene on chromosome 19p13." + }, + { + "input": "hereditary sensory neuropathy x-linked", + "output": "A hereditary sensory neuropathy characterized by x-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life." + }, + { + "input": "atypical hereditary sensory neuropathy", + "output": "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 2", + "output": "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood." + }, + { + "input": "hereditary sensory and autonomic neuropathy type 1", + "output": "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance." + }, + { + "input": "spermatogenic failure 21", + "output": "A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the brdt gene on chromosome 1p22." + }, + { + "input": "spermatogenic failure 2", + "output": "A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1." + }, + { + "input": "spermatogenic failure 18", + "output": "A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the dnah1 gene on chromosome 3p21." + }, + { + "input": "spermatogenic failure 20", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the cfap44 gene on chromosome 3q13." + }, + { + "input": "spermatogenic failure 6", + "output": "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the spata16 gene on chromosome 3q26." + }, + { + "input": "spermatogenic failure 3", + "output": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the slc26a8 gene on chromosome 6p21." + }, + { + "input": "spermatogenic failure 8", + "output": "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the nr5a1 gene on chromosome 9q33." + }, + { + "input": "spermatogenic failure 19", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the cfap43 gene on chromosome 10q25." + }, + { + "input": "spermatogenic failure 12", + "output": "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the nanos1 gene on chromosome 10q26." + }, + { + "input": "spermatogenic failure 15", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the syce1 gene on chromosome 10q26." + }, + { + "input": "spermatogenic failure 7", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the catsper1 gene on chromosome 11q13." + }, + { + "input": "spermatogenic failure 17", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the plcz1 gene on chromosome 12p12." + }, + { + "input": "spermatogenic failure 4", + "output": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the sycp3 gene on chromosome 12q23." + }, + { + "input": "spermatogenic failure 22", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the meiob gene on chromosome 16p13." + }, + { + "input": "spermatogenic failure 10", + "output": "A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the sept12 gene on chromosome 16p13." + }, + { + "input": "spermatogenic failure 14", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the zmynd15 gene on chromosome 17p13." + }, + { + "input": "spermatogenic failure 11", + "output": "A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the klhl10 gene on chromosome 17q21." + }, + { + "input": "spermatogenic failure 23", + "output": "A spermatogenic failure that is characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the tex14 gene on chromosome 17q23." + }, + { + "input": "spermatogenic failure 13", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the taf4b gene on chromosome 18q11." + }, + { + "input": "spermatogenic failure 5", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the aurkc gene on chromosome 19q13." + }, + { + "input": "spermatogenic failure 16", + "output": "A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the sun5 gene on chromosome 20q11." + }, + { + "input": "x-linked spermatogenic failure 2", + "output": "A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in x-linked inheritance of mutation in the tex11 gene on chromosome xq13." + }, + { + "input": "y-linked spermatogenic failure 1", + "output": "A sertoli cell-only syndrome that has_material_basis_in deletions in the yq11 chromosomal region." + }, + { + "input": "y-linked spermatogenic failure 2", + "output": "A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the yq11.221 chromosomal region." + }, + { + "input": "spermatogenic failure 1", + "output": "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects." + }, + { + "input": "x-linked spermatogenic failure 1", + "output": "A sertoli cell-only syndrome characterized by x-linked inheritance." + }, + { + "input": "autosomal recessive chronic granulomatous disease 2", + "output": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ncf2 gene on chromosome 1q25." + }, + { + "input": "autosomal recessive chronic granulomatous disease 1", + "output": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ncf1 gene on chromosome 7q11.23." + }, + { + "input": "autosomal recessive chronic granulomatous disease 4", + "output": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the cyba gene on chromosome 16q24.2." + }, + { + "input": "autosomal recessive chronic granulomatous disease 3", + "output": "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the ncf4 gene on chromosome 22q12." + }, + { + "input": "x-linked chronic granulomatous disease", + "output": "A chronic granulomatous disease characterized by x-linked inheritance that has_material_basis_in mutation in the cybb gene on chromosome xp21.1-p11.4." + }, + { + "input": "infantile-onset distal myopathy", + "output": "A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development." + }, + { + "input": "distal myopathy 1", + "output": "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the myh7 gene on chromosome 14q11.2." + }, + { + "input": "miyoshi muscular dystrophy", + "output": "A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood." + }, + { + "input": "miyoshi muscular dystrophy 1", + "output": "A miyoshi muscular dystrophy that has_material_basis_in mutation in the dysf gene on chromosome 2p13." + }, + { + "input": "miyoshi muscular dystrophy 2", + "output": "A miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10." + }, + { + "input": "miyoshi muscular dystrophy 3", + "output": "A miyoshi muscular dystrophy that has_material_basis_in mutation in the ano5 gene on chromosome 11p14." + }, + { + "input": "familial partial lipodystrophy type 2", + "output": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the lmna gene on chromosome 1q21." + }, + { + "input": "familial partial lipodystrophy type 5", + "output": "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the cidec gene on chromosome 3p25." + }, + { + "input": "familial partial lipodystrophy type 3", + "output": "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the pparg gene on chromosome 3p25." + }, + { + "input": "familial partial lipodystrophy type 4", + "output": "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the plin1 gene on chromosome 15q26." + }, + { + "input": "familial partial lipodystrophy type 6", + "output": "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the lipe gene on chromosome 19q13." + }, + { + "input": "familial partial lipodystrophy type 1", + "output": "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body." + }, + { + "input": "hereditary lymphedema ic", + "output": "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the gjc2 gene on chromosome 1q42." + }, + { + "input": "hereditary lymphedema id", + "output": "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the vegfc gene on chromosome 4q34." + }, + { + "input": "hereditary lymphedema ia", + "output": "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the flt4 gene on chromosome 5q35." + }, + { + "input": "hereditary lymphedema ib", + "output": "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1." + }, + { + "input": "hereditary lymphedema i", + "output": "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood." + }, + { + "input": "hereditary lymphedema ii", + "output": "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance." + }, + { + "input": "familial hyperinsulinemic hypoglycemia 7", + "output": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the slc16a1 gene on chromosome 1p13.2." + }, + { + "input": "familial hyperinsulinemic hypoglycemia 4", + "output": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the hadh gene on chromosome 4q25." + }, + { + "input": "familial hyperinsulinemic hypoglycemia 3", + "output": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the gck gene on chromosome 7p13." + }, + { + "input": "familial hyperinsulinemic hypoglycemia 6", + "output": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the glud1 gene on chromosome 10q23.3." + }, + { + "input": "familial hyperinsulinemic hypoglycemia 2", + "output": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the kcnj11 gene on chromosome 11p15.1." + }, + { + "input": "familial hyperinsulinemic hypoglycemia 1", + "output": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the abcc8 gene on chromosome 11p15." + }, + { + "input": "familial hyperinsulinemic hypoglycemia 5", + "output": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-c peptide ratio that has_material_basis_in mutation in the insr gene on chromosome 19p13." + }, + { + "input": "progressive familial intrahepatic cholestasis", + "output": "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood." + }, + { + "input": "progressive familial intrahepatic cholestasis 2", + "output": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the abcb11 gene on chromosome 2q31." + }, + { + "input": "progressive familial intrahepatic cholestasis 3", + "output": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum ggt1 activity that has_material_basis_in mutation in the abcb4 gene on chromosome 7q21.12." + }, + { + "input": "progressive familial intrahepatic cholestasis 4", + "output": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the tjp2 gene on chromosome 9q21." + }, + { + "input": "progressive familial intrahepatic cholestasis 5", + "output": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the nr1h4 gene on chromosome 12q." + }, + { + "input": "progressive familial intrahepatic cholestasis 1", + "output": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the atp8b1 gene on chromosome 18q21." + }, + { + "input": "intrahepatic cholestasis of pregnancy", + "output": "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery." + }, + { + "input": "intrahepatic cholestasis of pregnancy 1", + "output": "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the atp8b1 gene on chromosome 18q21." + }, + { + "input": "intrahepatic cholestasis of pregnancy 3", + "output": "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the abcb4 gene on chromosome 7q21." + }, + { + "input": "benign recurrent intrahepatic cholestasis", + "output": "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction." + }, + { + "input": "benign recurrent intrahepatic cholestasis 1", + "output": "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the atp8b1 gene on chromosome 18q." + }, + { + "input": "benign recurrent intrahepatic cholestasis 2", + "output": "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the abcb11 gene on chromosome 2q31." + }, + { + "input": "loeys-dietz syndrome 4", + "output": "A loeys-dietz syndrome that has_material_basis_in heterozygous mutation in the tgfb2 gene on chromosome 1q41." + }, + { + "input": "loeys-dietz syndrome 2", + "output": "A loeys-dietz syndrome that has_material_basis_in heterozygous mutation in the tgfbr2 gene on chromosome 3p24." + }, + { + "input": "loeys-dietz syndrome 1", + "output": "A loeys-dietz syndrome that has_material_basis_in heterozygous mutation in the tgfbr1 gene on chromosome 9q22." + }, + { + "input": "loeys-dietz syndrome 5", + "output": "A loeys-dietz syndrome that has_material_basis_in heterozygous mutation in the tgfb3 gene on chromosome 14q24." + }, + { + "input": "loeys-dietz syndrome 3", + "output": "A loeys-dietz syndrome that has_material_basis_in heterozygous mutation in the smad3 gene on chromosome 15q." + }, + { + "input": "primary coenzyme q10 deficiency 1", + "output": "A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of the coq2 gene on chromosome 4q21.22-q21.23." + }, + { + "input": "primary coenzyme q10 deficiency 2", + "output": "A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of the pdss1 gene on chromosome 10p12.1." + }, + { + "input": "primary coenzyme q10 deficiency 3", + "output": "A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of the pdss2 gene on chromosome 6q21." + }, + { + "input": "primary coenzyme q10 deficiency 4", + "output": "A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of the adck3 gene on chromosome 1q42.13." + }, + { + "input": "primary coenzyme q10 deficiency 5", + "output": "A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of the coq9 gene on chromosome 16q21." + }, + { + "input": "primary coenzyme q10 deficiency 6", + "output": "A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of the coq6 gene on chromosome 14q24.3." + }, + { + "input": "primary coenzyme q10 deficiency 7", + "output": "A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of the coq4 gene on chromosome 9q34.11." + }, + { + "input": "primary coenzyme q10 deficiency 8", + "output": "A primary coenzyme q10 deficiency that has_material_basis_in an autosomal recessive mutation of the coq7 gene on chromosome 16p12.3." + }, + { + "input": "x-linked emery-dreifuss muscular dystrophy 1", + "output": "An emery-dreifuss muscular dystrophy that has_material_basis_in an x-linked recessive mutation of emd on chromosome xq28." + }, + { + "input": "autosomal dominant emery-dreifuss muscular dystrophy 2", + "output": "An emery-dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the lmna gene on chromosome 1q22." + }, + { + "input": "autosomal recessive emery-dreifuss muscular dystrophy 3", + "output": "An emery-dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the lmna gene on chromosome 1q22." + }, + { + "input": "autosomal dominant emery-dreifuss muscular dystrophy 4", + "output": "An emery-dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the syne1 gene on chromosome 6q25.2." + }, + { + "input": "autosomal dominant emery-dreifuss muscular dystrophy 5", + "output": "An emery-dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the syne2 gene on chromosome 14q23.2." + }, + { + "input": "x-linked emery-dreifuss muscular dystrophy 6", + "output": "An emery-dreifuss muscular dystrophy that has_material_basis_in an x-linked recessive mutation of the fhl1 gene on chromosome xq26.3." + }, + { + "input": "autosomal dominant emery-dreifuss muscular dystrophy 7", + "output": "An emery-dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the tmem43 gene on chromosome 3p25.1." + }, + { + "input": "congenital disorder of glycosylation type iia", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the mgat2 gene on chromosome 14q21.3." + }, + { + "input": "congenital disorder of glycosylation type iib", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the mogs gene on chromosome 2p13.1." + }, + { + "input": "congenital disorder of glycosylation type iic", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the slc35c1 gene on chromosome 11p11.2." + }, + { + "input": "congenital disorder of glycosylation type iid", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the b4galt1 gene on chromosome 9p21.1." + }, + { + "input": "congenital disorder of glycosylation type iie", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in a mutation of the cog7 gene on chromosome 16p12.2." + }, + { + "input": "congenital disorder of glycosylation type iif", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the slc35a1 gene on chromosome 6q15." + }, + { + "input": "congenital disorder of glycosylation type iig", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in a mutation of the cog1 gene on chromosome 17q25.1." + }, + { + "input": "congenital disorder of glycosylation type iih", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in a mutation of the cog8 gene on chromosome 16q22.1." + }, + { + "input": "congenital disorder of glycosylation type iii", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in a mutation of the cog5 gene on chromosome 7q22.3." + }, + { + "input": "congenital disorder of glycosylation type iij", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the cog4 gene on chromosome 16q22.1." + }, + { + "input": "congenital disorder of glycosylation type iik", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the tmem165 gene on chromosome 4q12." + }, + { + "input": "congenital disorder of glycosylation type iil", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the cog6 gene on chromosome 13q14.11." + }, + { + "input": "congenital disorder of glycosylation type iim", + "output": "A congenital disorder of glycosylation type ii that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in x-linked dominant inheritance of hemizygous or heterozygous mutation in the slc35a2 gene on chromosome xp11.23." + }, + { + "input": "congenital disorder of glycosylation type iin", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the slc39a8 gene on chromosome 4q24." + }, + { + "input": "congenital disorder of glycosylation type iio", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the ccdc115 gene on chromosome 2q21.1." + }, + { + "input": "congenital disorder of glycosylation type iip", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the tmem199 gene on chromosome 17q11.2." + }, + { + "input": "congenital disorder of glycosylation type iiq", + "output": "A congenital disorder of glycosylation type ii that has_material_basis_in an autosomal recessive mutation of the cog2 gene on chromosome 1q42.2." + }, + { + "input": "hereditary nonpolyposis colorectal cancer type 8", + "output": "A lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the epcam gene and intergenic regions adjacent to the msh2 gene on chromosome 2p21. this results in transcriptional read-through and silencing of msh2 in tissues expressing epcam." + }, + { + "input": "lynch syndrome 1", + "output": "A lynch syndrome that has_material_basis_in heterozygous mutations in the msh2 gene on chromosome 2p21-p16." + }, + { + "input": "hereditary nonpolyposis colorectal cancer type 5", + "output": "A lynch syndrome that has_material_basis_in heterozygous mutation in the msh6 gene on chromosome 2p16." + }, + { + "input": "hereditary nonpolyposis colorectal cancer type 6", + "output": "A lynch syndrome that has_material_basis_in heterozygous mutation in the tgfbr2 gene on chromosome 3p22." + }, + { + "input": "hereditary nonpolyposis colorectal cancer type 2", + "output": "A lynch syndrome that has_material_basis_in mutations in the mlh1 gene on chromosome 3p22.2." + }, + { + "input": "hereditary nonpolyposis colorectal cancer type 4", + "output": "A lynch syndrome that has_material_basis_in heterozygous mutation in the pms2 gene on chromosome 7p22." + }, + { + "input": "hereditary nonpolyposis colorectal cancer type 7", + "output": "A lynch syndrome that has_material_basis_in mutation in the mlh3 gene on chromosome 14q24.3." + }, + { + "input": "primary autosomal recessive microcephaly 15", + "output": "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the mfsd2a gene on chromosome 1p34." + }, + { + "input": "primary autosomal recessive microcephaly 7", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the stil gene on chromosome 1p33." + }, + { + "input": "primary autosomal recessive microcephaly 14", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the sass6 gene on chromosome 1p21." + }, + { + "input": "primary autosomal recessive microcephaly 5", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the aspm gene on chromosome 1q31." + }, + { + "input": "primary autosomal recessive microcephaly 19", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the copb2 gene on chromosome 3q23." + }, + { + "input": "primary autosomal recessive microcephaly 8", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the cep135 gene on chromosome 4q." + }, + { + "input": "primary autosomal recessive microcephaly 13", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the cenpe gene on chromosome 4q24." + }, + { + "input": "primary autosomal recessive microcephaly 12", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the cdk6 gene on chromosome 7q21." + }, + { + "input": "primary autosomal recessive microcephaly 1", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the mcph1 gene on chromosome 8p23." + }, + { + "input": "primary autosomal recessive microcephaly 3", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the cdk5rap2 gene on chromosome 9q33." + }, + { + "input": "primary autosomal recessive microcephaly 11", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the phc1 gene on chromosome 12p13." + }, + { + "input": "primary autosomal recessive microcephaly 17", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the cit gene on chromosome 12q24." + }, + { + "input": "primary autosomal recessive microcephaly 16", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ankle2 gene on chromosome 12q24." + }, + { + "input": "primary autosomal recessive microcephaly 6", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the cenpj gene on chromosome 13q12." + }, + { + "input": "primary autosomal recessive microcephaly 4", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the knl1 gene on chromosome 15q15." + }, + { + "input": "primary autosomal recessive microcephaly 9", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the cep152 gene on chromosome 15q21." + }, + { + "input": "primary autosomal recessive microcephaly 2 with or without cortical malformations", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the wdr62 gene on chromosome 19q13." + }, + { + "input": "primary autosomal recessive microcephaly 10", + "output": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the znf335 gene on chromosome 20q13." + }, + { + "input": "primary autosomal dominant microcephaly 18", + "output": "A primary microcephaly that has_material_basis_in heterozygous mutation in the wdfy3 gene on chromosome 4q21." + }, + { + "input": "primary autosomal recessive microcephaly", + "output": "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation." + }, + { + "input": "primary microcephaly", + "output": "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation." + }, + { + "input": "multiple epiphyseal dysplasia 2", + "output": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the col9a2 gene on chromosome 1p34." + }, + { + "input": "multiple epiphyseal dysplasia 5", + "output": "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the matn3 gene on chromosome 2p24." + }, + { + "input": "multiple epiphyseal dysplasia 4", + "output": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the slc26a2 gene on chromosome 5q32." + }, + { + "input": "multiple epiphyseal dysplasia 6", + "output": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the col9a1 gene on chromosome 6p13." + }, + { + "input": "multiple epiphyseal dysplasia 7", + "output": "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the cant1 gene on chromosome 17q25." + }, + { + "input": "multiple epiphyseal dysplasia 1", + "output": "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the comp gene on chromosome 19p13." + }, + { + "input": "multiple epiphyseal dysplasia 3", + "output": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the col9a3 gene on chromosome 20q13." + }, + { + "input": "multiple epiphyseal dysplasia due to collagen 9 anomaly", + "output": "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the col9a gene family (col9a1, col9a2, col9a3)." + }, + { + "input": "post-cardiac arrest syndrome", + "output": "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies." + }, + { + "input": "craniolenticulosutural dysplasia", + "output": "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. it has_material_basis_in the mutation of the sec23a gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects." + }, + { + "input": "rippling muscle disease 1", + "output": "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. it has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise." + }, + { + "input": "absence epilepsy", + "output": "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram." + }, + { + "input": "drug-induced hearing loss", + "output": "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity." + }, + { + "input": "oligoasthenoteratozoospermia", + "output": "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. oat is the most common cause of male subfertility." + }, + { + "input": "thiamine deficiency disease", + "output": "A nutritional deficiency disease that is characterized by low levels of thiamine." + }, + { + "input": "obstructive nephropathy", + "output": "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction." + }, + { + "input": "hypoplastic right heart syndrome", + "output": "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect." + }, + { + "input": "miura type epiphyseal chondrodysplasia", + "output": "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the npr2 gene on chromosome 9p13." + }, + { + "input": "wet beriberi", + "output": "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath." + }, + { + "input": "dry beriberi", + "output": "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting." + }, + { + "input": "miliaria pustulosa", + "output": "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection." + }, + { + "input": "miliaria profunda", + "output": "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash." + }, + { + "input": "miliaria crystallina", + "output": "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum." + }, + { + "input": "childhood hepatocellular carcinoma", + "output": "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma." + }, + { + "input": "childhood acute myeloid leukemia", + "output": "A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." + }, + { + "input": "systemic epstein-barr virus positive t-cell lymphoma of childhood", + "output": "A childhood lymphoma that is characterized by monoclonal expansion of epstein-barr virus-positive t cells with an activated cytotoxic phenotype in tissues or peripheral blood." + }, + { + "input": "malignant childhood adrenal gland pheochromocytoma", + "output": "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults." + }, + { + "input": "spitzoid melanoma", + "output": "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia." + }, + { + "input": "melanoma in congenital melanocytic nevus", + "output": "A skin melanoma that arises from a congenital melanocytic nevus." + }, + { + "input": "adult hepatocellular carcinoma", + "output": "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation." + }, + { + "input": "mitochondrial dna depletion syndrome", + "output": "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial dna in affected tissues, resulting in impaired mtdna-encoded protein synthesis and energy production in the affected tissues and organs." + }, + { + "input": "multiple mitochondrial dysfunctions syndrome", + "output": "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment." + }, + { + "input": "mitochondrial dna depletion syndrome 8b", + "output": "A mitochondrial dna depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain mri changes, known as the mngie phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase m2 b gene on chromosome 8q22." + }, + { + "input": "multiple mitochondrial dysfunctions syndrome 6", + "output": "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the pmpcb gene on chromosome 7q22." + }, + { + "input": "breast implant-associated anaplastic large cell lymphoma", + "output": "A periperal t-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule." + }, + { + "input": "vegetable allergy", + "output": "A food allergy triggered by a vegetable food product." + }, + { + "input": "celery allergy", + "output": "A vegetable allergy triggered by celery (apium graveolens)." + }, + { + "input": "arthrogryposis multiplex congenita-6", + "output": "An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the neb gene on chromosome 2q23." + }, + { + "input": "epithelial recurrent erosion dystrophy", + "output": "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity." + }, + { + "input": "cerebellar hypoplasia", + "output": "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed." + }, + { + "input": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay", + "output": "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. it presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus." + }, + { + "input": "classic citrullinemia", + "output": "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ass1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34." + }, + { + "input": "neonatal-onset type ii citrullinemia", + "output": "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (niccd), and has_material_basis_in homozygous or compound heterozygous mutation in the slc25a13 gene." + }, + { + "input": "adult-onset type ii citrullinemia", + "output": "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the slc25a13 gene on chromosome 7q21." + }, + { + "input": "csf1r-related brain malformation and osteopetrosis", + "output": "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in csf1r and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life." + }, + { + "input": "ocular tuberculosis", + "output": "A tuberculosis that is located_in some eye, has_material_basis_in mycobacterium tuberculosis, and has_sypmtom inflamed eyes." + }, + { + "input": "vertebral anomalies and variable endocrine and t-cell dysfunction", + "output": "A syndrome that has_material_basis_in heterozygous mutation in the tbx2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments." + }, + { + "input": "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies", + "output": "A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the ints1 gene on chromosome 7p22." + }, + { + "input": "encephalopathy due to defective mitochondrial and peroxisomal fission 1", + "output": "A syndrome that has_material_basis_in heterozygous mutation in the dnm1l gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood." + }, + { + "input": "spinal muscular atrophy with lower extremity predominant", + "output": "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles." + }, + { + "input": "spinal muscular atrophy with lower extremity predominant 2a", + "output": "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the bicd2 gene on chromosome 9q22." + }, + { + "input": "spinal muscular atrophy with lower extremity predominant 2b", + "output": "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the bicd2 gene on chromosome 9q22." + }, + { + "input": "spinal muscular atrophy with lower extremity predominant 1", + "output": "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the dync1h1 gene on chromosome 14q32." + }, + { + "input": "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures", + "output": "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the adprhl2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy." + }, + { + "input": "cataract 47", + "output": "A cataract that has_material_basis_in heterozygous mutation in the slc16a12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea." + }, + { + "input": "cataract 48", + "output": "A cataract that has_material_basis_in homozygous mutation in the dnmbp gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment." + }, + { + "input": "overactive bladder syndrome", + "output": "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia." + }, + { + "input": "visual impairment and progressive phthisis bulbi", + "output": "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the mark3 gene on chromosome 14q3." + }, + { + "input": "nephrotic syndrome type 20", + "output": "A familial nephrotic syndrome that has_material_basis_in x-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males." + }, + { + "input": "primary biliary cholangitis 1", + "output": "A primary biliary cholangitis that has_material_basis_in variation at the il12a locus on chromosome 3q25.33." + }, + { + "input": "primary biliary cholangitis 2", + "output": "A primary biliary cholangitis that has_material_basis_in variation at the hla-dqb1 locus on chromosome 6p21.3." + }, + { + "input": "primary biliary cholangitis 3", + "output": "A primary biliary cholangitis that has_material_basis_in variation at the il12rb2 locus on chromosome 1p31.2." + }, + { + "input": "primary biliary cholangitis 4", + "output": "A primary biliary cholangitis that has_material_basis_in variation near the irf5-tnpo3 locus on chromosome 7q32." + }, + { + "input": "primary biliary cholangitis 5", + "output": "A primary biliary cholangitis that has_material_basis_in variation at the zpbp2 locus on chromosome 17q12-q21." + }, + { + "input": "bradyopsia 1", + "output": "A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the rgs9 gene on chromosome 17q24." + }, + { + "input": "bradyopsia 2", + "output": "A braydopsia that has_material_basis_in homozygous mutation in the rgs9bp gene on chromosome 19q13." + }, + { + "input": "nevoid basal cell carcinoma syndrome 1", + "output": "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the ptch1 gene on chromosome 9q22." + }, + { + "input": "nevoid basal cell carcinoma syndrome 2", + "output": "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the sufu gene on chromosome 10q24." + }, + { + "input": "leukoencephalopathy with vanishing white matter 5", + "output": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the eif2b5 gene on chromosome 3q27." + }, + { + "input": "autosomal recessive chronic granulomatous disease 5", + "output": "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the cybc1 gene on chromosome 17q25." + }, + { + "input": "restrictive dermopathy 1", + "output": "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the zmpste24 gene on chromosome 1p34." + }, + { + "input": "restrictive dermopathy 2", + "output": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the lmna gene on chromosome 1q22." + }, + { + "input": "leukoencephalopathy with vanishing white matter 4", + "output": "A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the eif2b4 gene on chromosome 2p23." + }, + { + "input": "leukoencephalopathy with vanishing white matter 3", + "output": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the eif2b3 gene on chromosome 1p34." + }, + { + "input": "leukoencephalopathy with vanishing white matter 2", + "output": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the eif2b2 gene on chromosome 14q24." + }, + { + "input": "leukoencephalopathy with vanishing white matter 1", + "output": "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the eif2b1 gene on chromosome 12q24." + }, + { + "input": "developmental and epileptic encephalopathy 64", + "output": "A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the rhobtb2 gene on chromosome 8p21." + }, + { + "input": "developmental and epileptic encephalopathy 31b", + "output": "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the dnm1 gene on chromosome 9q34." + }, + { + "input": "developmental and epileptic encephalopathy 96", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the nsf gene on chromosome 17q21." + }, + { + "input": "developmental and epileptic encephalopathy 109", + "output": "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the fzr1 gene on chromosome 19p13." + }, + { + "input": "developmental and epileptic encephalopathy 6b", + "output": "A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the scn1a gene on chromosome 2q24. this disease has the same genetic basis as dravet syndrome (doid:0080422) but is more severe." + }, + { + "input": "developmental and epileptic encephalopathy 85", + "output": "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the smc1a gene on chromosome xp11." + }, + { + "input": "developmental and epileptic encephalopathy 90", + "output": "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the fgf13 gene on chromosome xq26." + }, + { + "input": "developmental and epileptic encephalopathy 95", + "output": "A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the pigs gene on chromosome 17q11." + }, + { + "input": "developmental and epileptic encephalopathy 97", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the celf2 gene on chromosome 10p14." + }, + { + "input": "developmental and epileptic encephalopathy 98", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the atp1a2 gene on chromosome 1q23." + }, + { + "input": "developmental and epileptic encephalopathy 99", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the atp1a3 gene on chromosome 19q13." + }, + { + "input": "developmental and epileptic encephalopathy 100", + "output": "A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the fbxo28 gene on chromosome 1q42." + }, + { + "input": "developmental and epileptic encephalopathy 101", + "output": "A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the grin1 gene on chromosome 9q34." + }, + { + "input": "developmental and epileptic encephalopathy 102", + "output": "A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the slc38a3 gene on chromosome 3p21." + }, + { + "input": "developmental and epileptic encephalopathy 103", + "output": "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the kcnc2 gene on chromosome 12q21." + }, + { + "input": "developmental and epileptic encephalopathy 104", + "output": "A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the atp6v0a1 on chromosome 17q21." + }, + { + "input": "developmental and epileptic encephalopathy 105", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the hid1 gene on chromosome 17q25." + }, + { + "input": "developmental and epileptic encephalopathy 106", + "output": "A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the ufsp2 gene on chromosome 4q35." + }, + { + "input": "developmental and epileptic encephalopathy 107", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the napb gene on chromosome 20p11." + }, + { + "input": "developmental and epileptic encephalopathy 108", + "output": "A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the mast3 gene on chromosome 19p13." + }, + { + "input": "developmental and epileptic encephalopathy 110", + "output": "A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the cacna2d1 gene on chromosome 7q21." + }, + { + "input": "progressive leukoencephalopathy with ovarian failure", + "output": "An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the aars2 gene on chromosome 6p21." + }, + { + "input": "hypomyelinating leukodystrophy 23", + "output": "A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the rnf220 gene on chromosome 1p34. this disease results in death in the first or second decade of life." + }, + { + "input": "hypomyelinating leukodystrophy 15", + "output": "A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the eprs1 gene on chromosome 1q41." + }, + { + "input": "hypomyelinating leukodystrophy 18", + "output": "A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the degs1 gene on chromosome 1q42." + }, + { + "input": "hypomyelinating leukodystrophy 19", + "output": "A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the tmem63a gene on chromosome 1q42." + }, + { + "input": "hypomyelinating leukodystrophy 25", + "output": "A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the tmem163 gene on chromosome 2q21." + }, + { + "input": "hypomyelinating leukodystrophy 22", + "output": "A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the cldn11 gene on chromosome 3q26." + }, + { + "input": "hypomyelinating leukodystrophy 26", + "output": "A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the slc35b2 gene on chromosome 6p21." + }, + { + "input": "hypomyelinating leukodystrophy 17", + "output": "A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the aimp2 gene on chromosome 7p22." + }, + { + "input": "hypomyelinating leukodystrophy 16", + "output": "A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the tmem106b gene on chromosome 7p21." + }, + { + "input": "hypomyelinating leukodystrophy 24", + "output": "A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the atp11a gene on chromosome 13q34." + }, + { + "input": "hypomyelinating leukodystrophy 21", + "output": "A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the polr3k gene on chromosome 16p13." + }, + { + "input": "hengel-maroofian-schols syndrome", + "output": "A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the bcas3 gene on chromosome 17q23." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 28", + "output": "An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the thg1l gene on chromosome 5q33." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 29", + "output": "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the vps41 gene on chromosome 7p14." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 30", + "output": "An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the pitrm1 gene on chromosome 10p15." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 31", + "output": "An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the atg7 gene on chromosome 3p25." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 32", + "output": "An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the prdx3 gene on chromosome 10q26." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 33", + "output": "An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the rnu12 gene on chromosome 22q13." + }, + { + "input": "brachycephaly, trichomegaly, and developmental delay", + "output": "A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the rps23 gene on chromosome 5q14." + }, + { + "input": "luo-schoch-yamamoto syndrome", + "output": "A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the rnf2 gene on chromosome 1q25." + }, + { + "input": "neurodevelopmental disorder with speech impairment and dysmorphic facies", + "output": "A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the setd1a gene on chromosome 16p11." + }, + { + "input": "vertebral hypersegmentation and orofacial anomalies", + "output": "A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the gdf11 gene on chromosome 12q13." + }, + { + "input": "acrocardiofacial syndrome", + "output": "A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit." + }, + { + "input": "developmental delay, hypotonia, and impaired language", + "output": "An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the fbxw7 gene on chromosome 4q31." + }, + { + "input": "neurodevelopmental disorder with spasticity and poor growth", + "output": "An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the ufc1 gene on chromosome 1q23." + }, + { + "input": "syndromic x-linked intellectual disability pilorge type", + "output": "A syndromic x-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the glra2 gene on chromosome xp22." + }, + { + "input": "early onset progressive encephalopathy with brain atrophy and thin corpus callosum", + "output": "An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the tbcd gene on chromosome 17q25." + }, + { + "input": "combined oxidative phosphorylation deficiency 44", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the fastkd2 gene on chromosome 2q33." + }, + { + "input": "combined oxidative phosphorylation deficiency 52", + "output": "A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex ii and iii deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the nfs1 gene on chromosome 20q11." + }, + { + "input": "combined oxidative phosphorylation deficiency 53", + "output": "A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the c2orf69 gene on chromosome 2q33." + }, + { + "input": "combined oxidative phosphorylation deficiency 54", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the prorp gene on chromosome 14q13." + }, + { + "input": "combined oxidative phosphorylation deficiency 55", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the polrmt gene on chromosome 19p13." + }, + { + "input": "combined oxidative phosphorylation deficiency 56", + "output": "A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the tamm41 gene on chromosome 3p25." + }, + { + "input": "combined oxidative phosphorylation deficiency 57", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the crls1 gene on chromosome 20p12." + }, + { + "input": "hyperphosphatasia with impaired intellectual development syndrome", + "output": "An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed." + }, + { + "input": "hyperphosphatasia with impaired intellectual development syndrome 5", + "output": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the pigw gene on chromosome 17q12." + }, + { + "input": "hyperphosphatasia with impaired intellectual development syndrome 1", + "output": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the pigv gene on chromosome 1p36." + }, + { + "input": "hyperphosphatasia with impaired intellectual development syndrome 2", + "output": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the pigo gene on chromosome 9p13." + }, + { + "input": "hyperphosphatasia with impaired intellectual development syndrome 3", + "output": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the pgap2 gene on chromosome 11p15." + }, + { + "input": "hyperphosphatasia with impaired intellectual development syndrome 4", + "output": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the pgap3 gene on chromosome 17q12." + }, + { + "input": "hyperphosphatasia with impaired intellectual development syndrome 6", + "output": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the pigy gene on chromosome 4q22." + }, + { + "input": "retinal macular dystrophy", + "output": "A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees." + }, + { + "input": "north carolina macular dystrophy", + "output": "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a dnase i hypersensitivity site on chromosome 6q16 upstream of the prdm13 gene." + }, + { + "input": "retinal macular dystrophy 3", + "output": "A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1." + }, + { + "input": "retinal macular dystrophy 4", + "output": "A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the clec3b gene on chromosome 3p21." + }, + { + "input": "paroxysmal nonkinesigenic dyskinesia 3", + "output": "A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the kcnma1 gene on chromosome 10q22." + }, + { + "input": "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction", + "output": "An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the gemin5 gene on chromosome 5q33.2." + }, + { + "input": "neurodevelopmental disorder with language delay and seizures", + "output": "An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the tiam1 gene on chromosome 21q22." + }, + { + "input": "early-onset dystonia and/or spastic paraplegia", + "output": "A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the atp5mc3 gene on chromosome 2q31.1." + }, + { + "input": "mitochondrial dna depletion syndrome 16", + "output": "A mitochondrial dna depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the polg2 gene on chromosome 17q23.3." + }, + { + "input": "mitochondrial dna depletion syndrome 16b", + "output": "A mitochondrial dna depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the polg2 gene on chromosome 17q23." + }, + { + "input": "mitochondrial dna depletion syndrome 17", + "output": "A mitochondrial dna depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the mrm2 gene on chromosome 7p22.3. phenotype is similar to melas syndrome." + }, + { + "input": "mitochondrial dna depletion syndrome 18", + "output": "A mitochondrial dna depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the slc25a21 gene on chromosome 14q11.3." + }, + { + "input": "mitochondrial dna depletion syndrome 19", + "output": "A mitochondrial dna depletion syndrome that has_material_basis_in compound heterozygous mutation in the slc25a10 gene on chromosome 17q25.3." + }, + { + "input": "mitochondrial dna depletion syndrome 20", + "output": "A mitochondrial dna depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the lig3 gene on chromosome 17q12." + }, + { + "input": "xanthinuria type i", + "output": "A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the xdh gene on chromosome 2p23." + }, + { + "input": "xanthinuria type ii", + "output": "A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the mocos gene on chromosome 18q12." + }, + { + "input": "hereditary spastic paraplegia 70", + "output": "A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the mars1 gene on chromosome 12q13.3." + }, + { + "input": "hereditary spastic paraplegia 79a", + "output": "A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the uchl1 gene on chromosome 4p13." + }, + { + "input": "hereditary spastic paraplegia 87", + "output": "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the tmem63c gene on chromosome 14q24.3." + }, + { + "input": "hereditary spastic paraplegia 88", + "output": "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the kpna3 gene on chromosome 13q14.2." + }, + { + "input": "hereditary spastic paraplegia 89", + "output": "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the amfr gene on chromosome 16q13." + }, + { + "input": "hereditary spastic paraplegia 90a", + "output": "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the sptssa gene on chromosome 14q13.1." + }, + { + "input": "hereditary spastic paraplegia 90b", + "output": "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the sptssa gene on chromosome 14q13.1." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 4a", + "output": "A mitochondrial complex v (atp synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 4b", + "output": "A mitochondrial complex v (atp synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 5", + "output": "A mitochondrial complex v (atp synthase) deficiency that has_material_basis_in homozygous mutation in the atp5f1d gene on chromosome 19p13.3." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 7", + "output": "A mitochondrial complex v (atp synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the atp5po gene on chromosome 21q22.11." + }, + { + "input": "spinocerebellar ataxia with axonal neuropathy type 3", + "output": "An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the coa7 gene on chromosome 1p32.3." + }, + { + "input": "carpal tunnel syndrome 1", + "output": "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the ttr gene on chromosome 18q12.1." + }, + { + "input": "carpal tunnel syndrome 2", + "output": "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the comp gene on chromosome 19p13.11." + }, + { + "input": "yoon-bellen neurodevelopmental syndrome", + "output": "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the ogdhl gene on chromosome 10q11.23." + }, + { + "input": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum", + "output": "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the supt16h gene on chromosome 14q11.2." + }, + { + "input": "chromosome 1p36.33 duplication syndrome", + "output": "A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the atad3 gene cluster, including the atad3a, atad3b, and atad3c genes, on chromosome 1p36.33 resulting in atad3a/atad3c gene fusion. hypotonia, encephalopathy, seizures, and white matter abnormalities are also common." + }, + { + "input": "early-onset epilepsy 2", + "output": "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the setd1a gene on chromosome 16p11.2." + }, + { + "input": "early-onset epilepsy 3", + "output": "An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the atp6v0c gene on chromosome 16p13.3." + }, + { + "input": "zaki syndrome", + "output": "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the wls gene on chromosome 1p31.3. additional variable features may include ocular, skeletal, cardiac, and renal anomalies." + }, + { + "input": "childhood-onset neurodegeneration with brain atrophy", + "output": "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the ubtf gene on chromosome 17q21.31." + }, + { + "input": "renal medullary carcinoma", + "output": "A renal cell carcinoma that develops in the renal medulla." + }, + { + "input": "diphthamide deficiency syndrome", + "output": "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation elongation factor 2 protein (gene: eef2)." + }, + { + "input": "diphthamide deficiency syndrome 1", + "output": "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the dph1 gene on chromosome 17p13.3." + }, + { + "input": "diphthamide deficiency syndrome 2", + "output": "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the dph2 gene on chromosome 1p34.1." + }, + { + "input": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties", + "output": "An diphthamide deficiency syndrome characterized by feeding difficulties, difficulty walking, and absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the dph5 gene on chromosome 1p21.2." + }, + { + "input": "schwannomatosis 1", + "output": "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the smarcb1 gene on chromosome 22q11.23." + }, + { + "input": "schwannomatosis 2", + "output": "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the lztr1 gene on chromosome 22q11.2." + }, + { + "input": "spinal neurofibromatosis", + "output": "A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots." + }, + { + "input": "watson syndrome", + "output": "A rasopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the nf1 gene on chromosome 17q11.2." + }, + { + "input": "legius syndrome", + "output": "A rasopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or lisch nodules that has_material_basis_in heterozygous mutation in the spred1 gene on chromosome 15q14." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 23", + "output": "A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the cox11 gene on chromosome 17q22." + }, + { + "input": "parkinson's disease 25", + "output": "An early-onset parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the ptpa gene on chromosome 9q34.11." + }, + { + "input": "dopamine transporter deficiency syndrome", + "output": "A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the slc6a3 gene on chromosome 5p15.33." + }, + { + "input": "atypical dopamine transporter deficiency syndrome", + "output": "A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia." + }, + { + "input": "classic dopamine transporter deficiency syndrome", + "output": "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the slc6a3 gene on chromosome 5p15.33. another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid." + }, + { + "input": "infantile parkinsonism-dystonia 2", + "output": "A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the slc18a2 gene on chromosome 10q25.3." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 1", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the surf1 gene on chromosome 9q34.2." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 3", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the cox10 gene on chromosome 17p12." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 4", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the sco1 gene on chromosome 17p13.1." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 7", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the cox6b1 gene on chromosome 19q13.12." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 8", + "output": "A cox deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the taco1 gene on chromosome 17q23.3." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 10", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the cox14 gene on chromosome 12q13.12." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 11", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the cox20 gene on chromosome 1q44." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 12", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the pet100 gene on chromosome 19p13.2." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 14", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the coa3 gene on chromosome 17q21.2." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 15", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the cox8a gene on chromosome 11q13.1." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 16", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the cox4i1 gene on chromosome 16q24.1." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 17", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the apopt1 gene on chromosome 14q32.33." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 18", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the cox6a2 gene on chromosome 16p11.2." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 19", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the pet117 gene on chromosome 20p11.23." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 20", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the cox5a gene on chromosome 15q24.2." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 21", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the ndufa4 gene on chromosome 7p21.3." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 22", + "output": "A cox deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the cox16 gene on chromosome 14q24.2." + }, + { + "input": "metabolic dysfunction and alcohol associated liver disease", + "output": "A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for masld and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). this disease is distinguished from masld by increased alcohol consumption and from ald by the evidence of one or more of the masld cardiometabolic risk factors." + }, + { + "input": "schinzel giedion syndrome", + "output": "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the setbp1 gene on chromosome 18q12.3." + }, + { + "input": "inflammatory poikiloderma with hair abnormalities and acral keratoses", + "output": "A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the ltv1 gene on chromosome 6q24.2." + }, + { + "input": "polyhydramnios, megalencephaly, and symptomatic epilepsy", + "output": "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the strada gene on chromosome 17q23.3." + }, + { + "input": "neurodevelopmental disorder with hypotonia and speech delay", + "output": "A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the eif4a2 gene on chromosome 3q27.3." + }, + { + "input": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the srsf1 gene on chromosome 17q22." + }, + { + "input": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", + "output": "An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the bptf gene on chromosome 17q24.2." + }, + { + "input": "chromosome 16p11.2 deletion syndrome, 593-kb", + "output": "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 mb)." + }, + { + "input": "mitchell syndrome", + "output": "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the acox1 gene on chromosome 17q25.1." + }, + { + "input": "muscular disease", + "output": "A musculoskeletal system disease that affects the muscles." + }, + { + "input": "bone disease", + "output": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function." + }, + { + "input": "bone remodeling disease", + "output": "A bone disease that results_in formation or resorption abnormalities located_in bone." + }, + { + "input": "bone development disease", + "output": "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." + }, + { + "input": "bone deterioration disease", + "output": "A bone structure disease that results_in change or damage of structure located_in bone." + }, + { + "input": "ischemic bone disease", + "output": "A bone disease that results_in an interruption of blood supply located_in bone." + }, + { + "input": "x-linked dominant disease", + "output": "A x-linked monogenic disease that has_material_basis_in dominant inheritance." + }, + { + "input": "bone structure disease", + "output": "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure." + }, + { + "input": "bone resorption disease", + "output": "A bone remodeling disease that results in an abnormal decrease of bone density or mass." + }, + { + "input": "x-linked recessive disease", + "output": "A x-linked monogenic disease that has_material_basis_in recessive inheritance." + }, + { + "input": "chromosomal disease", + "output": "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes." + }, + { + "input": "physical disorder", + "output": "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." + }, + { + "input": "spina bifida", + "output": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development." + }, + { + "input": "dysbaric osteonecrosis", + "output": "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone." + }, + { + "input": "metaphyseal dysplasia", + "output": "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone." + }, + { + "input": "jansen's metaphyseal chondrodysplasia", + "output": "A metaphyseal dysplasia that has_material_basis_in mutation in pth receptor which results_in short-limbed dwarfism." + }, + { + "input": "schmid metaphyseal chondrodysplasia", + "output": "A metaphyseal dysplasia that results_in dwarfism and bowed legs." + }, + { + "input": "otospondylomegaepiphyseal dysplasia, autosomal recessive", + "output": "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the col11a2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss." + }, + { + "input": "spondyloepimetaphyseal dysplasia", + "output": "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis." + }, + { + "input": "spondyloepimetaphyseal dysplasia, strudwick type", + "output": "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the col2a1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 16", + "output": "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the stub1 gene on chromosome 16p13." + }, + { + "input": "spondyloepimetaphyseal dysplasia, missouri type", + "output": "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the mmp13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities." + }, + { + "input": "fibrous dysplasia", + "output": "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue." + }, + { + "input": "craniodiaphyseal dysplasia", + "output": "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal." + }, + { + "input": "craniometaphyseal dysplasia", + "output": "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses." + }, + { + "input": "sost-related sclerosing bone dysplasia", + "output": "A hyperostosis that has_material_basis_in a mutation in the sost gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull." + }, + { + "input": "worth syndrome", + "output": "A hyperostosis that has_material_basis_in a mutation in the lrp5 gene which results_in increased bone density and bony structures located_in palate." + }, + { + "input": "pycnodysostosis", + "output": "An osteochondrodysplasia that has_material_basis_in a mutation in the ctsk gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges." + }, + { + "input": "axial osteomalacia", + "output": "An osteosclerosis that results_in coarsening located_in trabecular bone." + }, + { + "input": "fibrogenesis imperfecta ossium", + "output": "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. the initial symptom is frequently spontaneous fractures." + }, + { + "input": "hypochondroplasia", + "output": "An osteochondrodysplasia that has_material_basis_in mutation in the fgfr3 gene which affects ossification of cartilage and results_in short limb dwarfism." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 18", + "output": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the grid2 gene on chromosome 4q22." + }, + { + "input": "achondrogenesis", + "output": "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period." + }, + { + "input": "hypochondrogenesis", + "output": "An osteochondrodysplasia that has_material_basis_in a mutation in the col2a1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. the disease has_symptom enlarged abdomen." + }, + { + "input": "kniest dysplasia", + "output": "An osteochondrodysplasia that has_material_basis_in a mutation in the col2a1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. the disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face." + }, + { + "input": "stickler syndrome", + "output": "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems." + }, + { + "input": "pseudoachondroplasia", + "output": "An osteochondrodysplasia that has_material_basis_in mutations in the comp gene which results_in short limb dwarfism." + }, + { + "input": "acromesomelic dysplasia", + "output": "An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism." + }, + { + "input": "acromesomelic dysplasia, maroteaux type", + "output": "An acromesomelic dysplasia that has_material_basis_in mutation in npr-b receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments." + }, + { + "input": "acromesomelic dysplasia, hunter-thompson type", + "output": "An acromesomelic dysplasia that has_material_basis_in mutation in amdh gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot." + }, + { + "input": "acromesomelic dysplasia, grebe type", + "output": "An acromesomelic dysplasia that has_material_basis_in mutation in cdmp-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones." + }, + { + "input": "albright's hereditary osteodystrophy", + "output": "An pseudohypoparathyroidism 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." + }, + { + "input": "achondrogenesis type ia", + "output": "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine." + }, + { + "input": "achondrogenesis type ib", + "output": "An achondrogenesis that has_material_basis_in mutation in the slc26a2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." + }, + { + "input": "achondrogenesis type ii", + "output": "An achondrogenesis that has_material_basis_in mutations in the col2a1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 15", + "output": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the rubcn gene on chromosome 3q29." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 14", + "output": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the sptbn2 gene on chromosome 11q13." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 7", + "output": "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the tpp1 gene on chromosome 11p15." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 12", + "output": "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the wwox gene on chromosome 16q23." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 2", + "output": "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 13", + "output": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the grm1 gene on chromosome 6q24." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 11", + "output": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the syt14 gene on chromosome 1q32." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 17", + "output": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the cwf19l1 gene on chromosome 10q24." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 19", + "output": "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the slc9a1 gene on chromosome 1p36." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 20", + "output": "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the snx14 gene on chromosome 6q14." + }, + { + "input": "charcot-marie-tooth disease type 5", + "output": "A charcot-marie-tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait." + }, + { + "input": "charcot-marie-tooth disease type 6", + "output": "A charcot-marie-tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity." + }, + { + "input": "charcot-marie-tooth disease type 7", + "output": "A charcot-marie-tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa." + }, + { + "input": "mucolipidosis ii alpha/beta", + "output": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the gnptab gene." + }, + { + "input": "mucolipidosis iii alpha/beta", + "output": "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of glcnac-phosphotransferase." + }, + { + "input": "intestinal pseudo-obstruction", + "output": "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract." + }, + { + "input": "spina bifida occulta", + "output": "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed." + }, + { + "input": "neural tube defect", + "output": "A physical disorder characterized by incomplete closure of the neural tube." + }, + { + "input": "neu-laxova syndrome 2", + "output": "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the psat1 gene on chromosome 9q21.1, causing issues producing the amino acid serine." + }, + { + "input": "neu-laxova syndrome 1", + "output": "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the phgdh gene on chromosome 1p12, causing issues producing the amino acid serine." + }, + { + "input": "hypophosphatemic nephrolithiasis/osteoporosis 1", + "output": "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the slc34a1 gene on chromosome 5q35." + }, + { + "input": "hypophosphatemic nephrolithiasis/osteoporosis 2", + "output": "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the slc9a3r1 gene on chromosome 17q25.1." + }, + { + "input": "nonsyndromic congenital nail disorder 1", + "output": "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance." + }, + { + "input": "nonsyndromic congenital nail disorder 2", + "output": "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges." + }, + { + "input": "nonsyndromic congenital nail disorder 3", + "output": "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails." + }, + { + "input": "nonsyndromic congenital nail disorder 4", + "output": "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the r-spondin-4 gene on chromosome 20p13." + }, + { + "input": "nonsyndromic congenital nail disorder 5", + "output": "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment." + }, + { + "input": "nonsyndromic congenital nail disorder 6", + "output": "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails." + }, + { + "input": "nonsyndromic congenital nail disorder 7", + "output": "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins." + }, + { + "input": "nonsyndromic congenital nail disorder 8", + "output": "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only." + }, + { + "input": "nonsyndromic congenital nail disorder 9", + "output": "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails." + }, + { + "input": "tubular aggregate myopathy 1", + "output": "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the stim1 gene on chromosome 11p15." + }, + { + "input": "reducing body myopathy 1a", + "output": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the fhl1 gene on chromosome xq26." + }, + { + "input": "myofibrillar myopathy 1", + "output": "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35." + }, + { + "input": "myofibrillar myopathy 2", + "output": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-b-crystallin gene on chromosome 11q23." + }, + { + "input": "myofibrillar myopathy 3", + "output": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the myot gene on chromosome 5q31." + }, + { + "input": "myofibrillar myopathy 4", + "output": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the zasp gene on chromosome 10." + }, + { + "input": "myofibrillar myopathy 5", + "output": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the flnc gene on chromosome 7q32." + }, + { + "input": "myofibrillar myopathy 6", + "output": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the bag3 gene on chromosome 10q26." + }, + { + "input": "myofibrillar myopathy 7", + "output": "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the ky gene on chromosome 3q22." + }, + { + "input": "myopathy, lactic acidosis, and sideroblastic anemia", + "output": "A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy." + }, + { + "input": "compton-north congenital myopathy", + "output": "A congenital myopathy that has_material_basis_in homozygous mutation in the cntn1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels." + }, + { + "input": "congenital myopathy 4a", + "output": "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs." + }, + { + "input": "cylindrical spirals myopathy", + "output": "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions." + }, + { + "input": "microcephaly and chorioretinopathy 1", + "output": "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the tubgcp6 gene." + }, + { + "input": "microcephaly and chorioretinopathy 2", + "output": "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the plk4 gene." + }, + { + "input": "microcephaly and chorioretinopathy 3", + "output": "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the tubgcp4 gene." + }, + { + "input": "myoglobinuria", + "output": "A myopathy that is characterized by an increased urinary excretion of myoglobin." + }, + { + "input": "infantile myofibromatosis", + "output": "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs." + }, + { + "input": "contractures, pterygia, and spondylocarpotarsal fusion syndrome", + "output": "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 1", + "output": "A mitochondrial complex iii deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded bcs1l gene on chromosome 2q35." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 3", + "output": "A mitochondrial complex iii deficiency that has_material_basis_in homozygous mutation in the uqcrb gene on chromosome 8q22." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 4", + "output": "A mitochondrial complex iii deficiency that has_material_basis_in homozygous mutation in the uqcrq gene on chromosome 5q31." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 5", + "output": "A mitochondrial complex iii deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the uqcrc2 gene on chromosome 16p12." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 6", + "output": "A mitochondrial complex iii deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the cyc1 gene on chromosome 8q24." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 7", + "output": "A mitochondrial complex iii deficiency that has_material_basis_in homozygous mutation in the uqcc2 gene on chromosome 6p21." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 8", + "output": "A mitochondrial complex iii deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the lyrm7 gene on chromosome 5q23." + }, + { + "input": "mitochondrial complex iii deficiency nuclear type 9", + "output": "A mitochondrial complex iii deficiency that has_material_basis_in homozygous mutation in the uqcc3 gene on chromosome 11q12." + }, + { + "input": "mitochondrial dna depletion syndrome 1", + "output": "A mitochondrial dna depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13." + }, + { + "input": "mitochondrial dna depletion syndrome 2", + "output": "A mitochondrial dna depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtdna in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21." + }, + { + "input": "mitochondrial dna depletion syndrome 3", + "output": "A mitochondrial dna depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13." + }, + { + "input": "alpers-huttenlocher syndrome", + "output": "A mitochondrial dna depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial dna polymerase gamma on chromosome 15q26." + }, + { + "input": "mitochondrial dna depletion syndrome 4b", + "output": "A mitochondrial dna depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial dna polymerase gamma gene on chromosome 15q26." + }, + { + "input": "mitochondrial dna depletion syndrome 5", + "output": "A mitochondrial dna depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-coa ligase gene on chromosome 13q14." + }, + { + "input": "mitochondrial dna depletion syndrome 6", + "output": "A mitochondrial dna depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein mpv17 gene on chromosome 2p23." + }, + { + "input": "mitochondrial dna depletion syndrome 7", + "output": "A mitochondrial dna depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the c10orf2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24." + }, + { + "input": "mitochondrial dna depletion syndrome 8a", + "output": "A mitochondrial dna depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory tp53 inducible subunit m2b gene on chromosome 8q22." + }, + { + "input": "mitochondrial dna depletion syndrome 9", + "output": "A mitochondrial dna depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-coa ligase gene on chromosome 2p11." + }, + { + "input": "mitochondrial dna depletion syndrome 11", + "output": "A mitochondrial dna depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (peo), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11." + }, + { + "input": "mitochondrial dna depletion syndrome 12a", + "output": "A mitochondrial dna depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35." + }, + { + "input": "mitochondrial dna depletion syndrome 13", + "output": "A mitochondrial dna depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the f-box and leucine-rich repeat protein 4 gene on chromosome 6q16." + }, + { + "input": "sengers syndrome", + "output": "A mitochondrial dna depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34." + }, + { + "input": "multiple mitochondrial dysfunctions syndrome 1", + "output": "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nfu1 iron-sulfur cluster scaffold gene on chromosome 2p13." + }, + { + "input": "multiple mitochondrial dysfunctions syndrome 2", + "output": "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bola family member 3 gene on chromosome 2p13." + }, + { + "input": "multiple mitochondrial dysfunctions syndrome 3", + "output": "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor iba57 gene on chromosome 1q42." + }, + { + "input": "multiple mitochondrial dysfunctions syndrome 4", + "output": "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24." + }, + { + "input": "multiple endocrine neoplasia type 4", + "output": "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the cdkn1b gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked." + }, + { + "input": "multiple congenital anomalies-hypotonia-seizures syndrome 1", + "output": "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the pign gene on chromosome 18q21." + }, + { + "input": "multiple congenital anomalies-hypotonia-seizures syndrome 2", + "output": "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by x-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the piga gene on chromosome xp22." + }, + { + "input": "multiple congenital anomalies-hypotonia-seizures syndrome 3", + "output": "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the pigt gene on chromosome 20q13." + }, + { + "input": "mosaic variegated aneuploidy syndrome 1", + "output": "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the bub1b gene on chromosome 15q15." + }, + { + "input": "mosaic variegated aneuploidy syndrome 2", + "output": "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the cep57 gene on chromosome 11q21." + }, + { + "input": "congenital fibrosis of the extraocular muscles", + "output": "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position." + }, + { + "input": "childhood acute lymphocytic leukemia", + "output": "An acute lymphocytic leukemia occuring during childhood." + }, + { + "input": "childhood t-cell acute lymphoblastic leukemia", + "output": "A childhood acute lymphoblastic leukemia that has_material_basis_in t-cells." + }, + { + "input": "childhood b-cell acute lymphoblastic leukemia", + "output": "A childhood acute lymphoblastic leukemia that has_material_basis_in b-cells." + }, + { + "input": "lymphoblastic lymphoma", + "output": "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the b-cell or t-cell lineage and located_in primarily lymph nodes or located_in extranodal sites." + }, + { + "input": "t-cell childhood lymphoblastic lymphoma", + "output": "A lymphoblastic lymphoma that has_material_basis_in t-cells and that occurs during childhood." + }, + { + "input": "adult acute monocytic leukemia", + "output": "An acute monocytic leukemia occurring in adults." + }, + { + "input": "adrenocorticotropic hormone deficiency", + "output": "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." + }, + { + "input": "medium chain acyl-coa dehydrogenase deficiency", + "output": "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-coa dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting." + }, + { + "input": "short chain acyl-coa dehydrogenase deficiency", + "output": "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-coa dehydrogenase that results in the inability to convert short chain fatty acids." + }, + { + "input": "very long chain acyl-coa dehydrogenase deficiency", + "output": "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-coa dehydrogenase that results in the inability to convert very long chain fatty acids." + }, + { + "input": "x-linked adrenal hypoplasia congenita", + "output": "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor nr0b1 (dax1) gene." + }, + { + "input": "herpes simplex virus keratitis", + "output": "A keratitis that has_material_basis_in herpes simplex type infection." + }, + { + "input": "cryptococcal meningitis", + "output": "A fungal meningitis that has_material_basis_in crypococcus fungal infection." + }, + { + "input": "cytomegalovirus retinitis", + "output": "A retinitis that has_material_basis_in cytomegalovirus." + }, + { + "input": "cutaneous candidiasis", + "output": "A candidiasis that is characterized by candida infection located_in the skin." + }, + { + "input": "lupus nephritis", + "output": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus." + }, + { + "input": "otulipenia", + "output": "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the otulin gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15." + }, + { + "input": "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1", + "output": "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases." + }, + { + "input": "myeloid and lymphoid neoplasms associated with pdgfra rearrangement", + "output": "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 that is characterized by the rearrangement of the pdgfra gene, most often resulting in the formation of fip1l1-pdgfra fusion transcripts." + }, + { + "input": "myeloid and lymphoid neoplasms associated with pdgfrb rearrangement", + "output": "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 that is characterized by the rearrangement of the pdgfrb gene, most often resulting in the formation of etv6-pdgfrb fusion transcripts." + }, + { + "input": "myeloid and lymphoid neoplasms associated with fgfr1 abnormalities", + "output": "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 that is characterized by the rearrangement of the fgfr1 gene, resulting in translocations with an 8p11 breakpoint." + }, + { + "input": "tricuspid atresia", + "output": "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth." + }, + { + "input": "normophosphatemic familial tumoral calcinosis", + "output": "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors." + }, + { + "input": "esophageal atresia/tracheoesophageal fistula", + "output": "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing." + }, + { + "input": "thiopurine s-methyltransferase deficiency", + "output": "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines." + }, + { + "input": "bladder exstrophy-epispadias-cloacal exstrophy complex", + "output": "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract." + }, + { + "input": "bladder exstrophy", + "output": "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. the rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening." + }, + { + "input": "cloacal exstrophy", + "output": "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel." + }, + { + "input": "meningococcal meningitis", + "output": "A bacterial meningitis that has_material_basis_in neisseria meningitidis infection." + }, + { + "input": "hepatic veno-occlusive disease", + "output": "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver." + }, + { + "input": "mucositis", + "output": "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract." + }, + { + "input": "haemophilus meningitis", + "output": "A bacterial meningitis that has_material_basis_in haemophilus influenzae infection." + }, + { + "input": "zika virus congenital syndrome", + "output": "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of zika virus infection in utero." + }, + { + "input": "pharc syndrome", + "output": "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract." + }, + { + "input": "mixed fibrolamellar hepatocellular carcinoma", + "output": "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components." + }, + { + "input": "medullary colon carcinoma", + "output": "A colon carcinoma that is characterized by a solid growth pattern." + }, + { + "input": "mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma", + "output": "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin)." + }, + { + "input": "mucinous bronchioloalveolar adenocarcinoma", + "output": "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion." + }, + { + "input": "nonmucinous bronchioloalveolar adenocarcinoma", + "output": "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows clara cell or type 2 pneumocyte differentiation." + }, + { + "input": "chronic neutrophilic leukemia", + "output": "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable philadelphia chromosome or bcr/abl fusion gene." + }, + { + "input": "chronic myelomonocytic leukemia", + "output": "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." + }, + { + "input": "malignant hemangioma", + "output": "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen." + }, + { + "input": "malignant epithelioid hemangioendothelioma", + "output": "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. the neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma." + }, + { + "input": "pten hamartoma tumor syndrome", + "output": "A syndrome characterized as a spectrum of disorders (cowden syndrome, bannayan-riley-ruvalcaba syndrome, pten-related proteus syndrome, and proteus-like syndrome) caused by germline mutations of the pten gene." + }, + { + "input": "relapsed/refractory diffuse large b-cell lymphoma", + "output": "A diffuse large b-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission." + }, + { + "input": "superior semicircular canal dehiscence", + "output": "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus." + }, + { + "input": "carey-fineman-ziter syndrome", + "output": "A syndrome characterized by hypotonia, moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), pierre robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive." + }, + { + "input": "marinesco-sjogren syndrome", + "output": "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development." + }, + { + "input": "mandibulofacial dysostosis, guion-almeida type", + "output": "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia." + }, + { + "input": "congenital muscular dystrophy with cataracts and intellectual disability", + "output": "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the inpp5k gene (607875) on chromosome 17p13." + }, + { + "input": "infantile histiocytoid cardiomyopathy", + "output": "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b." + }, + { + "input": "colorectal carcinoma", + "output": "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa." + }, + { + "input": "bilateral renal aplasia", + "output": "A renal agenesis that is characterized by the absence of both kidneys at birth." + }, + { + "input": "peters plus syndrome", + "output": "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability." + }, + { + "input": "adenoid cystic carcinoma", + "output": "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells." + }, + { + "input": "renal hypoplasia", + "output": "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons." + }, + { + "input": "cakut", + "output": "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux." + }, + { + "input": "cakut1", + "output": "A cakut that has_material_basis_in heterozygous mutation in the dstyk gene on chromosome 1q32." + }, + { + "input": "cakut2", + "output": "A cakut that has_material_basis_in heterozygous mutation in the tbx18 gene on chromosome 6q14." + }, + { + "input": "metabolic dysfunction-associated steatotic liver disease", + "output": "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. the five cardiometabolic risk factors are:\\n(1) body mass index \u2265 25 kg/m2 (adult), 23 kg/m2 (adult asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\\n(2) fasting serum glucose \u2265 5.6 mmol/l, 2-hr post-load glucose levels \u2265 7.8 mmol/l, glycated hemoglobin (hba1c) \u2265 5.7% (39 mmol/l), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose \u2265 11.1 mmol/l (pediatric only).\\n(3) blood pressure \u2265 lower of 130/85 mmhg or 95th percentile (age < 13 years), or 130/85 mmhg (age \u2265 13 years); or specific hypertensive drug treatment.\\n(4) plasma triglycerides \u2265 1.15 mmol/l (age < 10 years) or 1.70 mmol/l (age \u2265 10 years); or lipid lowering treatment.\\n(5) plasma high-density lipoprotein cholesterol \u2264 1.0 mmol/l (adult male, pediatric) or 1.3 mmol/l (adult female); or lipid lowering treatment." + }, + { + "input": "sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay", + "output": "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the trnt1 gene on chromosome 3p26." + }, + { + "input": "primary mediastinal b-cell lymphoma", + "output": "A diffuse large b-cell lymphoma that is is characterized by a diffuse proliferation of medium to large b-cells associated with sclerosis." + }, + { + "input": "nodal marginal zone lymphoma", + "output": "A marginal zone b-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease." + }, + { + "input": "polycystic kidney disease 4", + "output": "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the pkd4 gene." + }, + { + "input": "punctate palmoplantar keratoderma type ii", + "output": "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits." + }, + { + "input": "punctate palmoplantar keratoderma type i", + "output": "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles." + }, + { + "input": "developmental and epileptic encephalopathy 8", + "output": "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in x-linked recessive inheritance of a mutation in the arhgef9 gene on chromosome xq22.1." + }, + { + "input": "duodenal atresia", + "output": "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum." + }, + { + "input": "lysosomal acid lipase deficiency", + "output": "A lipid storage disease characterized by lysosomal and lipase deficiency." + }, + { + "input": "primary spontaneous pneumothorax", + "output": "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung." + }, + { + "input": "dystransthyretinemic hyperthyroxinemia", + "output": "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (t4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the ttr gene on chromosome 18q12." + }, + { + "input": "pseudohypoparathyroidism type ib", + "output": "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (pth) resistance resulting in hypocalcemia, hyperphosphatemia and elevated pth levels that has_material_basis_in mutations that alter the methylation pattern of gnas on 20q13.32." + }, + { + "input": "epidermolytic palmoplantar keratoderma", + "output": "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles." + }, + { + "input": "autosomal dominant dystrophic epidermolysis bullosa", + "output": "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the col7a1 gene, which encodes a protein that assists assembly of type vii collagen." + }, + { + "input": "amyotrophic lateral sclerosis type 23", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the anxa11 gene on chromosome 10q22." + }, + { + "input": "autosomal dominant intellectual developmental disorder 56", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the cltc gene on chromosome 17q23." + }, + { + "input": "autosomal dominant intellectual developmental disorder 55", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the nus1 gene on chromosome 6q22." + }, + { + "input": "autosomal dominant intellectual developmental disorder 53", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the camk2a gene on chromosome 5q32." + }, + { + "input": "autosomal dominant intellectual developmental disorder 54", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the camk2b gene on chromosome 7p13." + }, + { + "input": "autosomal dominant intellectual developmental disorder 52", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ash1l gene on chromosome 1q22." + }, + { + "input": "autosomal dominant intellectual developmental disorder 51", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the kmt5b gene on chromosome 11q13." + }, + { + "input": "autosomal dominant intellectual developmental disorder 50", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the naa15 gene on chromosome 4q31." + }, + { + "input": "clark-baraitser syndrome", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the trip12 gene on chromosome 2q36." + }, + { + "input": "autosomal dominant intellectual developmental disorder 48", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the rac1 gene on chromosome 7p22." + }, + { + "input": "autosomal dominant intellectual developmental disorder 45", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the cic gene on chromosome 19q13." + }, + { + "input": "autosomal dominant intellectual developmental disorder 46", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the kcnq5 gene on chromosome 6q14." + }, + { + "input": "autosomal dominant intellectual developmental disorder 47", + "output": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the stag1 gene on chromosome 3q22." + }, + { + "input": "autosomal recessive intellectual developmental disorder 61", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the run and sh3 domain containing 2 gene (rusc2) on chromosome 9p13." + }, + { + "input": "non-syndromic x-linked intellectual disability 106", + "output": "A non-syndromic x-linked intellectual disability that has_material_basis_in hemizygous mutation in ogt on chromosome xq13.1." + }, + { + "input": "syndromic x-linked mental retardation 35", + "output": "A syndromic x-linked intellectual disability that has_material_basis_in mutation in the rpl10 gene on chromosome xq28." + }, + { + "input": "syndromic x-linked mental retardation hough type", + "output": "A syndromic x-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the cnksr2 gene on chromosome xp22." + }, + { + "input": "amelogenesis imperfecta type 3b", + "output": "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene." + }, + { + "input": "galloway-mowat syndrome 2", + "output": "A galloway-mowat syndrome that has_material_basis_in hemizygous mutation in the lage3 gene on chromosome xq28." + }, + { + "input": "galloway-mowat syndrome 3", + "output": "A galloway-mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the osgep gene on chromosome 14q11." + }, + { + "input": "galloway-mowat syndrome 4", + "output": "A galloway-mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the tp53rk gene on chromosome 20q13." + }, + { + "input": "galloway-mowat syndrome 5", + "output": "A galloway-mowat syndrome that has_material_basis_in homozygous mutation in the tprkb gene on chromosome 2p13." + }, + { + "input": "erythrokeratodermia variabilis et progressiva 2", + "output": "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (gjb4) on chromosome 1p34." + }, + { + "input": "erythrokeratodermia variabilis et progressiva 3", + "output": "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (gja1) on chromosome 6q22." + }, + { + "input": "erythrokeratodermia variabilis et progressiva 4", + "output": "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the kdsr gene on chromosome 18q21." + }, + { + "input": "erythrokeratodermia variabilis et progressiva 5", + "output": "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the krt83 gene on chromosome 12q13." + }, + { + "input": "spastic ataxia 8", + "output": "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the nkx6-2 gene on chromosome 8q21." + }, + { + "input": "meckel syndrome 13", + "output": "A meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the tmem107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality." + }, + { + "input": "orofaciodigital syndrome xvi", + "output": "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the tmem107 gene on chromosome 17p13." + }, + { + "input": "meier-gorlin syndrome 8", + "output": "A meier-gorlin syndrome that has_material_basis_in compound heterozygous mutation in the mcm5 gene on chromosome 22q12." + }, + { + "input": "perrault syndrome 6", + "output": "A perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the eral1 gene on chromosome 17q11." + }, + { + "input": "autosomal recessive congenital ichthyosis 13", + "output": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the sdr9c7 gene on chromosome 12q13." + }, + { + "input": "autosomal recessive congenital ichthyosis 14", + "output": "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the sult2b1 gene on chromosome 19q13." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 25", + "output": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the atg5 gene on chromosome 6q21." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 26", + "output": "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the xrcc1 gene on chromosome 19q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 106", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the eps8l2 gene on chromosome 11p15." + }, + { + "input": "autosomal recessive nonsyndromic deafness 107", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the wbp2 gene on chromosome 17q25." + }, + { + "input": "autosomal recessive nonsyndromic deafness 108", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ror1 gene on chromosome 1p31." + }, + { + "input": "exudative vitreoretinopathy 7", + "output": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ctnnb1 gene on chromosome 3p22.1." + }, + { + "input": "nephrotic syndrome type 14", + "output": "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (sgpl1) gene on chromosome 10q21." + }, + { + "input": "primary ciliary dyskinesia 37", + "output": "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the dnah1 gene on chromosome 3p21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 71", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the dmxl2 gene on chromosome 15q21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 72", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the slc44a4 gene on chromosome 6p21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 73", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ptprq gene on chromosome 12q21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 34", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the nlrp3 gene on chromosome 1q44." + }, + { + "input": "nephrotic syndrome type 15", + "output": "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the magi2 gene on chromosome 7q21." + }, + { + "input": "nephrotic syndrome type 16", + "output": "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the kank2 gene on chromosome 19p13." + }, + { + "input": "polycystic kidney disease 5", + "output": "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the dzip1l gene on chromosome 3q22." + }, + { + "input": "multiple mitochondrial dysfunctions syndrome 5", + "output": "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21." + }, + { + "input": "joubert syndrome 30", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the armc9 gene on chromosome 2q37." + }, + { + "input": "joubert syndrome 29", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the tmem107 gene on chromosome 17p13." + }, + { + "input": "joubert syndrome 31", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the cep120 gene on chromosome 5q23." + }, + { + "input": "joubert syndrome 32", + "output": "A joubert syndrome that has_material_basis_in homozygous mutation in the sufu gene on chromosome 10q24." + }, + { + "input": "joubert syndrome 33", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the pibf1 gene on chromosome 13q21." + }, + { + "input": "gingival fibromatosis 5", + "output": "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the rest gene on chromosome 4q12." + }, + { + "input": "schizophrenia 19", + "output": "A schizophrenia that has_material_basis_in heterozygous mutation in the rbm12 gene on chromosome 20q11." + }, + { + "input": "developmental and epileptic encephalopathy 56", + "output": "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the ywhag gene on chromosome 7q11." + }, + { + "input": "developmental and epileptic encephalopathy 55", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the pigp gene on chromosome 21q22." + }, + { + "input": "developmental and epileptic encephalopathy 57", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the kcnt2 gene on chromosome 1q31." + }, + { + "input": "developmental and epileptic encephalopathy 58", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ntrk2 gene on chromosome 9q21." + }, + { + "input": "spinocerebellar ataxia 44", + "output": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the grm1 gene on chromosome 6q24." + }, + { + "input": "spinocerebellar ataxia 45", + "output": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the fat2 gene on chromosome 5q33." + }, + { + "input": "spinocerebellar ataxia 46", + "output": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the pld3 gene on chromosome 19q13." + }, + { + "input": "orofaciodigital syndrome xvii", + "output": "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the intu gene on chromosome 4q28." + }, + { + "input": "familial erythrocytosis 5", + "output": "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the epo gene on chromosome 7q21." + }, + { + "input": "developmental and epileptic encephalopathy 59", + "output": "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the gabbr2 gene on chromosome 9q22." + }, + { + "input": "retinitis pigmentosa 81", + "output": "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the ift43 gene on chromosome 14q24." + }, + { + "input": "short-rib thoracic dysplasia 18 with polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the ift43 gene on chromosome 14q24." + }, + { + "input": "charcot-marie-tooth disease dominant intermediate g", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in heterozygous mutation in the nefl gene on chromosome 8p21." + }, + { + "input": "short-rib thoracic dysplasia 19 with or without polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the ift81 gene on chromosome 12q24." + }, + { + "input": "hypomyelinating leukodystrophy 14", + "output": "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the ufm1 gene on chromosome 13q13." + }, + { + "input": "coffin-siris syndrome 6", + "output": "A coffin-siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that \\nhas_material_basis_in heterozygous mutation in the arid2 gene on chromosome 12q12." + }, + { + "input": "complete generalized lipodystrophy", + "output": "A lipodystrophy that is characterized by complete loss of adipose tissue." + }, + { + "input": "partial lipodystrophy", + "output": "A lipodystrophy that is characterized by partial loss of adipose tissue." + }, + { + "input": "acquired generalized lipodystrophy", + "output": "A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth." + }, + { + "input": "atypical hemolytic-uremic syndrome", + "output": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." + }, + { + "input": "mixed sleep apnea", + "output": "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea." + }, + { + "input": "mucinous lung adenocarcinoma", + "output": "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces." + }, + { + "input": "lung mucinous cystadenocarcinoma", + "output": "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue." + }, + { + "input": "signet ring lung adenocarcinoma", + "output": "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus." + }, + { + "input": "solid adenocarcinoma with mucin production", + "output": "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells." + }, + { + "input": "myofibrillar myopathy", + "output": "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles." + }, + { + "input": "myofibrillar myopathy 8", + "output": "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the pyroxd1 gene on chromosome 12p12." + }, + { + "input": "fatal infantile hypertonic myofibrillar myopathy", + "output": "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the cryab gene on chromosome 11q23." + }, + { + "input": "x-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance", + "output": "A syndromic x-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene." + }, + { + "input": "neurodevelopmental disorder with midbrain and hindbrain malformations", + "output": "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the arhgef2 gene on chromosome 1q22." + }, + { + "input": "cleft palate-lateral synechia syndrome", + "output": "A physical disorder that is characterized by fusion of maxilla and mandible." + }, + { + "input": "cone-rod dystrophy 14", + "output": "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the guca1a gene on chromosome 6p21.1." + }, + { + "input": "megalencephalic leukoencephalopathy with subcortical cysts", + "output": "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline." + }, + { + "input": "megalencephalic leukoencephalopathy with subcortical cysts 1", + "output": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the mlc1 gene on chromosome 22q13." + }, + { + "input": "megalencephalic leukoencephalopathy with subcortical cysts 2b", + "output": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the hepacam gene on chromosome 11q24." + }, + { + "input": "megalencephalic leukoencephalopathy with subcortical cysts 2a", + "output": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the hepacam gene on chromosome 11q24." + }, + { + "input": "x-linked immunodeficiency with magnesium defect, epstein-barr virus infection, and neoplasia", + "output": "A t cell deficiency that is characterized by cd4 lymphopenia, severe chronic viral infections, and defective t-lymphocyte activation in males and has_material_basis_in x-linked inheritance of mutations in the gene encoding magnesium transporter-1 (magt1)." + }, + { + "input": "peripheral nervous system benign neoplasm", + "output": "A central nervous system benign neoplasm the is located_in the peripheral nervous system." + }, + { + "input": "autonomic nervous system benign neoplasm", + "output": "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system." + }, + { + "input": "polycystic kidney disease", + "output": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure." + }, + { + "input": "pancreatic squamous cell carcinoma", + "output": "A squamous cell carcinoma located in the pancreas." + }, + { + "input": "tuberous sclerosis 1", + "output": "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the tsc1 gene on chromosome 9q34." + }, + { + "input": "tuberous sclerosis 2", + "output": "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tsc2 gene, which encodes tuberin, on chromosome 16p13." + }, + { + "input": "familial hypertrophic cardiomyopathy", + "output": "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations." + }, + { + "input": "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly", + "output": "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the cep55 gene on chromosome 10q23." + }, + { + "input": "culler-jones syndrome", + "output": "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the gli2 gene on chromosome 2q14. midline facial defects and developmental delay can also be seen. the condition shows incomplete penetrance and high variable expressivity." + }, + { + "input": "cold-induced sweating syndrome 1", + "output": "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the crlf1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention." + }, + { + "input": "cold-induced sweating syndrome 2", + "output": "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the clcf1 gene on chromosome 11q13." + }, + { + "input": "cold-induced sweating syndrome 3", + "output": "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the klhl7 gene on chromosome 7p15." + }, + { + "input": "bicuspid aortic valve disease", + "output": "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives." + }, + { + "input": "aortic valve disease 1", + "output": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the notch1 gene on chromosome 9q34." + }, + { + "input": "aortic valve disease 2", + "output": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the smad6 gene on chromosome 15q22." + }, + { + "input": "mitochondrial dna depletion syndrome 12b", + "output": "A mitochondrial dna depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35." + }, + { + "input": "mitochondrial dna depletion syndrome 14", + "output": "A mitochondrial dna depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the opa1 mitochondrial dynamin like gtpase gene on chromosome 3q29." + }, + { + "input": "mitochondrial dna depletion syndrome 15", + "output": "A mitochondrial dna depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial dna depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor a gene on chromosome 10q21." + }, + { + "input": "familial erythrocytosis 3", + "output": "A primary polycythemia that has_material_basis_in heterozygous mutation in the egln1 gene on chromosome 1q42." + }, + { + "input": "familial erythrocytosis 4", + "output": "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the epas1 gene on chromosome 2p21." + }, + { + "input": "simpson-golabi-behmel syndrome type 2", + "output": "A syndrome that has_material_basis_in mutation in the ofd1 gene on chromosome xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems." + }, + { + "input": "autosomal recessive pyridoxine-refractory sideroblastic anemia 3", + "output": "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the glrx5 gene on chromosome 14q32." + }, + { + "input": "blepharocheilodontic syndrome", + "output": "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth." + }, + { + "input": "blepharocheilodontic syndrome 1", + "output": "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the cdh1 gene on chromosome 16q22." + }, + { + "input": "blepharocheilodontic syndrome 2", + "output": "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the ctnnd1 gene on chromosome 11q12." + }, + { + "input": "malignant pheochromocytoma", + "output": "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones." + }, + { + "input": "alzheimer's disease 1", + "output": "An alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the app gene, which encodes the amyloid precursor protein, on chromosome 21q21." + }, + { + "input": "developmental and epileptic encephalopathy 39", + "output": "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the slc25a12 gene on chromosome 2q31." + }, + { + "input": "retinitis pigmentosa 77", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the reep6 gene on chromosome 19p13." + }, + { + "input": "cloves syndrome", + "output": "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the pik3ca gene on chromosome 3q26." + }, + { + "input": "x-linked chondrodysplasia punctata 2", + "output": "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome xp11." + }, + { + "input": "x-linked recessive hypophosphatemic rickets", + "output": "A rickets that has_material_basis_in mutation in the clcn5 gene on chromosome xp11.22." + }, + { + "input": "phelan-mcdermid syndrome", + "output": "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the shank3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. the deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development." + }, + { + "input": "hepatobiliary system cancer", + "output": "A gastrointestinal system cancer that is located_in the hepatobiliary system." + }, + { + "input": "igg4-related disease", + "output": "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in igg4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum igg4 levels affecting various organs." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 2", + "output": "A cox deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the sco2 gene on chromosome 22q13." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 6", + "output": "A cox deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the cox15 gene on chromosome 10q24." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 9", + "output": "A cox deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the coa5 gene on chromosome 2q11." + }, + { + "input": "mitochondrial complex iv deficiency nuclear type 13", + "output": "A cox deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the coa6 gene on chromosome 1q42." + }, + { + "input": "trimethylaminuria", + "output": "An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24." + }, + { + "input": "x-linked spondyloepiphyseal dysplasia tarda", + "output": "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the sedl gene on chromosome xp22." + }, + { + "input": "mitochondrial pyruvate carrier deficiency", + "output": "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the brp44l gene on chromosome 6q27." + }, + { + "input": "malignant adenoma", + "output": "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer." + }, + { + "input": "endometrial hyperplasia", + "output": "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium." + }, + { + "input": "desmoid tumor", + "output": "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs." + }, + { + "input": "chronic eosinophilic leukemia", + "output": "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues." + }, + { + "input": "sex cord-stromal benign neoplasm", + "output": "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, leydig cells, sertoli cells, and/or fibroblasts." + }, + { + "input": "ovarian sex-cord stromal tumor", + "output": "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, sertoli cells, leydig cells, theca cells, and fibroblasts." + }, + { + "input": "ovarian sex cord-stromal benign neoplasm", + "output": "A sex cord-stromal benign neoplasm that arises from the ovary." + }, + { + "input": "testicular sex cord-stromal benign neoplasm", + "output": "A sex cord-stromal benign neoplasm that arises from the testis." + }, + { + "input": "epithelioid inflammatory myofibroblastic sarcoma", + "output": "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with alk immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells." + }, + { + "input": "epididymis disease", + "output": "A male reproductive system disease that is located_in the epididymis." + }, + { + "input": "gastroesophageal cancer", + "output": "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach." + }, + { + "input": "gastroesophageal adenocarcinoma", + "output": "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue." + }, + { + "input": "trichorhinophalangeal syndrome type iii", + "output": "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the trps1 gene on chromosome 8q23." + }, + { + "input": "peroxisomal biogenesis disorder", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in defects in pex genes." + }, + { + "input": "nephrotic syndrome type 2", + "output": "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the nphs2 gene encoding podocin on chromosome 1q25-q31." + }, + { + "input": "nephrotic syndrome type 5", + "output": "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the lamb2 gene on chromosome 3p." + }, + { + "input": "nephrotic syndrome type 13", + "output": "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the nup205 gene on chromosome 7q33." + }, + { + "input": "nephrotic syndrome type 3", + "output": "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the plce1 gene on chromosome 10q23." + }, + { + "input": "nephrotic syndrome type 4", + "output": "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the wt1 gene on chromosome 11p13." + }, + { + "input": "nephrotic syndrome type 6", + "output": "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the ptpro gene on chromosome 12p12." + }, + { + "input": "nephrotic syndrome type 11", + "output": "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the nup107 gene on chromosome 12q15." + }, + { + "input": "nephrotic syndrome type 10", + "output": "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the emp2 gene on chromosome 16p13." + }, + { + "input": "nephrotic syndrome type 12", + "output": "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the nup93 gene on chromosome 16q13." + }, + { + "input": "nephrotic syndrome type 7", + "output": "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the dgke gene on chromosome 17q22." + }, + { + "input": "nephrotic syndrome type 8", + "output": "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the arhgdia gene on chromosome 17q25." + }, + { + "input": "nephrotic syndrome type 1", + "output": "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the nphs1 gene on chromosome 19q13." + }, + { + "input": "nephrotic syndrome type 9", + "output": "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the coq8b gene on chromosome 19q13." + }, + { + "input": "nephrotic syndrome type 17", + "output": "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the nup85 gene on chromosome 17q25." + }, + { + "input": "nephrotic syndrome type 18", + "output": "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the nup133 gene on chromosome 1q42." + }, + { + "input": "nephrotic syndrome type 19", + "output": "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the nup160 gene on chromosome 11p11." + }, + { + "input": "orofacial cleft 1", + "output": "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3." + }, + { + "input": "orofacial cleft 2", + "output": "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13." + }, + { + "input": "orofacial cleft 3", + "output": "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13." + }, + { + "input": "orofacial cleft 4", + "output": "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region." + }, + { + "input": "orofacial cleft 5", + "output": "An orofacial cleft that has_material_basis_in mutation in the msx1 gene on chromosome 4p16." + }, + { + "input": "orofacial cleft 7", + "output": "An orofacial cleft that has_material_basis_in by homozygous mutation in the pvrl1 gene on chromosome 11q23." + }, + { + "input": "orofacial cleft 8", + "output": "An orofacial cleft that has_material_basis_in heterozygous mutation in the tp63 gene on chromosome 3q28." + }, + { + "input": "orofacial cleft 9", + "output": "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34." + }, + { + "input": "orofacial cleft 10", + "output": "An orofacial cleft that has_material_basis_in mutation in the sumo1 gene on chromosome 2q33." + }, + { + "input": "orofacial cleft 11", + "output": "An orofacial cleft that has_material_basis_in heterozygous mutation in the bmp4 gene on chromosome 14q22." + }, + { + "input": "orofacial cleft 12", + "output": "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3." + }, + { + "input": "orofacial cleft 13", + "output": "An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the t allele of snp rs3827730." + }, + { + "input": "orofacial cleft 14", + "output": "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors." + }, + { + "input": "orofacial cleft 15", + "output": "An orofacial cleft that has_material_basis_in mutation in the dlx4 gene on chromosome 17q21." + }, + { + "input": "familial adenomatous polyposis 1", + "output": "A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the apc gene on chromosome 5q22." + }, + { + "input": "familial adenomatous polyposis 2", + "output": "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the mutyh gene on chromosome 1p34." + }, + { + "input": "familial adenomatous polyposis 3", + "output": "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the nthl1 gene on chromosome 16p13." + }, + { + "input": "familial adenomatous polyposis 4", + "output": "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the msh3 gene on chromosome 5q11." + }, + { + "input": "developmental and epileptic encephalopathy 18", + "output": "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the szt2 gene on chromosome 1p34." + }, + { + "input": "developmental and epileptic encephalopathy 15", + "output": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the st3gal3 gene on chromosome 1p34." + }, + { + "input": "developmental and epileptic encephalopathy 23", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the dock7 gene on chromosome 1p31." + }, + { + "input": "developmental and epileptic encephalopathy 32", + "output": "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the kcna2 gene on chromosome 1p13." + }, + { + "input": "developmental and epileptic encephalopathy 38", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the arv1 gene on chromosome 1q42." + }, + { + "input": "developmental and epileptic encephalopathy 54", + "output": "A developmental and epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the hnrnpu gene on chromosome 1q44." + }, + { + "input": "developmental and epileptic encephalopathy 50", + "output": "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the cad gene on chromosome 2p23." + }, + { + "input": "developmental and epileptic encephalopathy 62", + "output": "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the scn3a gene on chromosome 2q24." + }, + { + "input": "developmental and epileptic encephalopathy 11", + "output": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the scn2a gene on chromosome 2q24." + }, + { + "input": "dravet syndrome", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the scn1a gene on chromosome 2q24." + }, + { + "input": "developmental and epileptic encephalopathy 44", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the uba5 gene on chromosome 3q22." + }, + { + "input": "developmental and epileptic encephalopathy 47", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the fgf12 gene on chromosome 3q28." + }, + { + "input": "developmental and epileptic encephalopathy 63", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the cplx1 gene on chromosome 4p16." + }, + { + "input": "developmental and epileptic encephalopathy 40", + "output": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the guf1 gene on chromosome 4p12." + }, + { + "input": "developmental and epileptic encephalopathy 45", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the gabrb1 gene on chromosome 4p13." + }, + { + "input": "developmental and epileptic encephalopathy 24", + "output": "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the hcn1 gene on chromosome 5p12." + }, + { + "input": "developmental and epileptic encephalopathy 65", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the cyfip2 gene on chromosome 5q33." + }, + { + "input": "developmental and epileptic encephalopathy 19", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the gabra1 gene on chromosome 5q34." + }, + { + "input": "developmental and epileptic encephalopathy 60", + "output": "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on eeg, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the cnpy3 gene on chromosome 6p." + }, + { + "input": "developmental and epileptic encephalopathy 51", + "output": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the mdh2 gene on chromosome 7q11." + }, + { + "input": "developmental and epileptic encephalopathy 61", + "output": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the adam22 gene on chromosome 7q21." + }, + { + "input": "developmental and epileptic encephalopathy 37", + "output": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the frrs1l gene (604574) on chromosome 9q31." + }, + { + "input": "developmental and epileptic encephalopathy 4", + "output": "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the stxbp1 gene on chromosome 9q34.1." + }, + { + "input": "developmental and epileptic encephalopathy 31a", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the dnm1 gene on chromosome 9q34." + }, + { + "input": "developmental and epileptic encephalopathy 5", + "output": "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the sptan1 gene on chromosome 9q34." + }, + { + "input": "developmental and epileptic encephalopathy 14", + "output": "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the kcnt1 gene on chromosome 9q34." + }, + { + "input": "developmental and epileptic encephalopathy 3", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the slc25a22 gene on chromosome 11p15." + }, + { + "input": "developmental and epileptic encephalopathy 49", + "output": "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the dennd5a gene on chromosome 11p15." + }, + { + "input": "developmental and epileptic encephalopathy 41", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the slc1a2 gene on chromosome 11p13." + }, + { + "input": "developmental and epileptic encephalopathy 21", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the necap1 gene on chromosome 12p13." + }, + { + "input": "developmental and epileptic encephalopathy 27", + "output": "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the grin2b gene on chromosome 12p12." + }, + { + "input": "developmental and epileptic encephalopathy 13", + "output": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the scn8a gene on chromosome 12q13." + }, + { + "input": "developmental and epileptic encephalopathy 66", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the pacs2 gene on chromosome 14q32." + }, + { + "input": "developmental and epileptic encephalopathy 43", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the gabrb3 gene on chromosome 15q11." + }, + { + "input": "developmental and epileptic encephalopathy 48", + "output": "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the ap3b2 gene on chromosome 15q25." + }, + { + "input": "developmental and epileptic encephalopathy 16", + "output": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the tbc1d24 gene on chromosome 16p13." + }, + { + "input": "developmental and epileptic encephalopathy 17", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the gnao1 gene on chromosome 16q13." + }, + { + "input": "developmental and epileptic encephalopathy 29", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the aars1 gene on chromosome 16q22." + }, + { + "input": "developmental and epileptic encephalopathy 28", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the wwox gene on chromosome 16q23." + }, + { + "input": "developmental and epileptic encephalopathy 25", + "output": "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the slc13a5 gene on chromosome 17p13." + }, + { + "input": "developmental and epileptic encephalopathy 42", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the cacna1a gene on chromosome 19p13." + }, + { + "input": "developmental and epileptic encephalopathy 52", + "output": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the scn1b gene on chromosome 19q13." + }, + { + "input": "developmental and epileptic encephalopathy 46", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the grin2d gene on chromosome 19q13." + }, + { + "input": "microcephaly, seizures, and developmental delay", + "output": "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the pnkp gene on chromosome 19q13." + }, + { + "input": "developmental and epileptic encephalopathy 35", + "output": "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the itpa gene on chromosome 20p13." + }, + { + "input": "developmental and epileptic encephalopathy 12", + "output": "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the plcb1 gene on chromosome 20p12.3." + }, + { + "input": "developmental and epileptic encephalopathy 34", + "output": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the slc12a5 gene on chromosome 20q12." + }, + { + "input": "developmental and epileptic encephalopathy 26", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the kcnb1 gene on chromosome 20q13." + }, + { + "input": "developmental and epileptic encephalopathy 7", + "output": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the kcnq2 gene on chromosome 20q13." + }, + { + "input": "developmental and epileptic encephalopathy 33", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the eef1a2 gene on chromosome 20q13." + }, + { + "input": "developmental and epileptic encephalopathy 53", + "output": "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the synj1 gene on chromosome 21q22." + }, + { + "input": "developmental and epileptic encephalopathy 30", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the sik1 gene on chromosome 21q22." + }, + { + "input": "developmental and epileptic encephalopathy 2", + "output": "A developmental and epileptic encephalopathy characterized by x-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the cdkl5 gene on chromosome xp22." + }, + { + "input": "developmental and epileptic encephalopathy 1", + "output": "A developmental and epileptic encephalopathy characterized by x-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the arx gene on chromosome xp21." + }, + { + "input": "developmental and epileptic encephalopathy 36", + "output": "A developmental and epileptic encephalopathy characterized by x-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the alg13 gene on chromosome xq23." + }, + { + "input": "developmental and epileptic encephalopathy 92", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the gabrb2 gene on chromosome 5q34." + }, + { + "input": "developmental and epileptic encephalopathy 91", + "output": "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the ppp3ca gene on chromosome 4q24." + }, + { + "input": "developmental delay and seizures with or without movement abnormalities", + "output": "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the dhdds gene on chromosome 1p36." + }, + { + "input": "pustular psoriasis 14", + "output": "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of c-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the il36rn gene on chromosome 2q14." + }, + { + "input": "psoriasis 2", + "output": "A psoriasis that has_material_basis_in heterozygous mutation in the card14 gene on chromosome 17q25." + }, + { + "input": "peroxisome biogenesis disorder 1a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the pex1 gene on chromosome 7q21." + }, + { + "input": "peroxisome biogenesis disorder 2a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the pex5 gene on chromosome 12p13." + }, + { + "input": "peroxisome biogenesis disorder 3a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the pex12 gene on chromosome 17." + }, + { + "input": "peroxisome biogenesis disorder 4a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the pex6 gene on chromosome 6p21.1." + }, + { + "input": "peroxisome biogenesis disorder 5a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the pex2 gene on chromosome 8q21." + }, + { + "input": "peroxisome biogenesis disorder 6a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the pex10 gene on chromosome 1p36." + }, + { + "input": "peroxisome biogenesis disorder 7a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the pex26 gene on chromosome 22q11." + }, + { + "input": "peroxisome biogenesis disorder 8a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the pex16 gene on chromosome 11p11." + }, + { + "input": "peroxisome biogenesis disorder 10a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the pex3 gene on chromosome 6q24." + }, + { + "input": "peroxisome biogenesis disorder 11a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the pex13 gene on chromosome 2p15." + }, + { + "input": "peroxisome biogenesis disorder 12a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the pex19 gene on chromosome 1q23." + }, + { + "input": "peroxisome biogenesis disorder 13a", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the pex14 gene on chromosome 1p36." + }, + { + "input": "mucolipidosis", + "output": "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids." + }, + { + "input": "gm1 gangliosidosis type 3", + "output": "A gm1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years." + }, + { + "input": "mucolipidosis type iv", + "output": "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time." + }, + { + "input": "cerebral cavernous malformation 1", + "output": "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the krit1 gene on chromosome 7q21." + }, + { + "input": "leukocyte adhesion deficiency 2", + "output": "A leukocyte adhesion deficiency that is characterized by the absence of sialyl lewis x of e-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit." + }, + { + "input": "ovarian dysgenesis 1", + "output": "A 46 xx gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16." + }, + { + "input": "ovarian dysgenesis 2", + "output": "A 46 xx gonadal dysgenesis that has_material_basis_in mutation in the bmp15 gene on chromosome xp11." + }, + { + "input": "ovarian dysgenesis 3", + "output": "A 46 xx gonadal dysgenesis that has_material_basis_in homozygous mutation in the psmc3ip gene on chromosome 17q12-q21." + }, + { + "input": "ovarian dysgenesis 4", + "output": "A 46 xx gonadal dysgenesis that has_material_basis_in homozygous mutation in the mcm9 gene on chromosome 6q22." + }, + { + "input": "ovarian dysgenesis 5", + "output": "A 46 xx gonadal dysgenesis that has_material_basis_in homozygous mutation in the sohlh1 gene on chromosome 9q34." + }, + { + "input": "ovarian dysgenesis 6", + "output": "A 46 xx gonadal dysgenesis that has_material_basis_in homozygous mutation in the nup107 gene on chromosome 12q15." + }, + { + "input": "ovarian dysgenesis 7", + "output": "A 46 xx gonadal dysgenesis that has_material_basis_in homozygous mutation in the mrps22 gene on chromosome 3q23." + }, + { + "input": "ovarian dysgenesis 8", + "output": "A 46 xx gonadal dysgenesis that has_material_basis_in heterozygous mutation in the esr2 gene on chromosome 14q23." + }, + { + "input": "gm1 gangliosidosis type 2", + "output": "A gm1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age." + }, + { + "input": "gm1 gangliosidosis type 1", + "output": "A gm1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death." + }, + { + "input": "multiple congenital anomalies-hypotonia-seizures syndrome", + "output": "A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies." + }, + { + "input": "parkinson's disease 22", + "output": "A late onset parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2." + }, + { + "input": "cornelia de lange syndrome 1", + "output": "A cornelia de lange syndrome that has_material_basis_in heterozygous mutation in the nipbl gene, which encodes a component of the cohesin complex, on chromosome 5p13." + }, + { + "input": "cornelia de lange syndrome 2", + "output": "A cornelia de lange syndrome that has_material_basis_in a mutation in the smc1a gene, which encodes a subunit of the cohesin complex, on chromosome xp11." + }, + { + "input": "cornelia de lange syndrome 3", + "output": "A cornelia de lange syndrome that has_material_basis_in heterozygous mutation in the smc3 gene on chromosome 10q25.2." + }, + { + "input": "cornelia de lange syndrome 4", + "output": "A cornelia de lange syndrome that has_material_basis_in heterozygous mutation in the rad21 gene, which encodes a component of the cohesin complex, on chromosome 8q24." + }, + { + "input": "cornelia de lange syndrome 5", + "output": "A cornelia de lange syndrome that has_material_basis_in by mutation in the hdac8 gene on chromosome xq13." + }, + { + "input": "epidermolysis bullosa simplex localized type", + "output": "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet." + }, + { + "input": "epidermolysis bullosa simplex generalized type", + "output": "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy." + }, + { + "input": "meier-gorlin syndrome 1", + "output": "A meier-gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the orc1 gene on chromosome 1p32." + }, + { + "input": "meier-gorlin syndrome 2", + "output": "A meier-gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the orc4 gene on chromosome 2q23." + }, + { + "input": "meier-gorlin syndrome 3", + "output": "A meier-gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the orc6 gene on chromosome 16q11." + }, + { + "input": "meier-gorlin syndrome 4", + "output": "A meier-gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the cdt1 gene on chromosome 16q24." + }, + { + "input": "meier-gorlin syndrome 5", + "output": "A meier-gorlin syndrome that has_material_basis_in homozygous mutation in the cdc6 gene on chromosome 17q21." + }, + { + "input": "meier-gorlin syndrome 6", + "output": "A meier-gorlin syndrome that has_material_basis_in heterozygous mutation in the gmnn gene on chromosome 6p22." + }, + { + "input": "meier-gorlin syndrome 7", + "output": "A meier-gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the cdc45 gene on chromosome 22q11." + }, + { + "input": "papa syndrome", + "output": "A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the pstpip1 gene on chromosome 15q24." + }, + { + "input": "tn polyagglutination syndrome", + "output": "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the c1galt1c1 gene on chromosome xq24." + }, + { + "input": "lung non-squamous non-small cell carcinoma", + "output": "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation." + }, + { + "input": "thyroid gland anaplastic carcinoma", + "output": "A thyroid gland carcinoma that is composed of undifferentiated cells." + }, + { + "input": "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", + "output": "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the csf1r gene on chromosome 5q32." + }, + { + "input": "thyroid gland adenocarcinoma", + "output": "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "differentiated thyroid gland carcinoma", + "output": "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation." + }, + { + "input": "bronchiectasis 1", + "output": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12." + }, + { + "input": "bronchiectasis 2", + "output": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel." + }, + { + "input": "bronchiectasis 3", + "output": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel." + }, + { + "input": "granular corneal dystrophy 1", + "output": "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. abnormalities lead to increased protein deposition and disruption of the corneal surface." + }, + { + "input": "dedifferentiated liposarcoma", + "output": "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells." + }, + { + "input": "smarca4-deficient sarcoma of thorax", + "output": "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as brg1-associated factors (baf chromatin remodeling complex)." + }, + { + "input": "carney-stratakis syndrome", + "output": "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors." + }, + { + "input": "myxofibrosarcoma", + "output": "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma." + }, + { + "input": "hypermanganesemia with dystonia", + "output": "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese." + }, + { + "input": "hypermanganesemia with dystonia 1", + "output": "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the slc30a10 gene on chromosome 1q41." + }, + { + "input": "hypermanganesemia with dystonia 2", + "output": "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the slc39a14 gene on chromosome 8p21." + }, + { + "input": "sweeney-cox syndrome", + "output": "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the twist1 gene on chromosome 7p21." + }, + { + "input": "peho syndrome", + "output": "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss." + }, + { + "input": "galactosialidosis", + "output": "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the ctsa gene on chromosome 20q13." + }, + { + "input": "hyperprolinemia", + "output": "An amno acid metabolic disorder that is characterized by the excess of proline in the blood." + }, + { + "input": "hyperprolinemia type 1", + "output": "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11." + }, + { + "input": "hyperprolinemia type 2", + "output": "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36." + }, + { + "input": "hyper igm syndrome", + "output": "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies iga, igg and ige but can produce normal or elevated levels of igm." + }, + { + "input": "hyper ige syndrome", + "output": "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs." + }, + { + "input": "non-alcoholic fatty liver", + "output": "A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning." + }, + { + "input": "metabolic dysfunction-associated steatohepatitis", + "output": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis." + }, + { + "input": "noonan syndrome with multiple lentigines 1", + "output": "A noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the ptpn11 gene on chromosome 12q24." + }, + { + "input": "noonan syndrome with multiple lentigines 2", + "output": "A noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the raf1 gene on chromosome 3p25." + }, + { + "input": "noonan syndrome with multiple lentigines 3", + "output": "A noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the braf gene on chromosome 7q34." + }, + { + "input": "naxos disease", + "output": "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21." + }, + { + "input": "congenital disorder of glycosylation ia", + "output": "A congenital disorder of glycosylation i that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." + }, + { + "input": "congenital disorder of glycosylation iaa", + "output": "A congenital disorder of glycosylation i that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the nus1 gene on chromosome 6q22." + }, + { + "input": "congenital disorder of glycosylation ib", + "output": "A congenital disorder of glycosylation i that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein c and s deficiency, low anti-thrombine iii levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24." + }, + { + "input": "congenital disorder of glycosylation ic", + "output": "A congenital disorder of glycosylation i that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the alg6 gene on chromosome 1p31." + }, + { + "input": "congenital disorder of glycosylation id", + "output": "A congenital disorder of glycosylation i that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the alg3 gene on chromosome 3q27." + }, + { + "input": "congenital disorder of glycosylation ie", + "output": "A congenital disorder of glycosylation i that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the dpm1 gene on chromosome 20q13." + }, + { + "input": "congenital disorder of glycosylation if", + "output": "A congenital disorder of glycosylation i that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the mpdu1 gene on chromosome 17p13." + }, + { + "input": "congenital disorder of glycosylation ig", + "output": "A congenital disorder of glycosylation i that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-p-mannose:man-7-glcnac-2-pp-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13." + }, + { + "input": "congenital disorder of glycosylation ih", + "output": "A congenital disorder of glycosylation i that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-p-glucose:glc-1-man-9-glcnac-2-pp-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14." + }, + { + "input": "congenital disorder of glycosylation ii", + "output": "A congenital disorder of glycosylation i that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the alg2 gene on chromosome 9q22." + }, + { + "input": "congenital disorder of glycosylation ij", + "output": "A congenital disorder of glycosylation i that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the dpagt1 gene, which encodes udp-glcnac:dolichyl-phosphate n-acetylglucosamine phosphotransferase, on chromosome 11q23." + }, + { + "input": "congenital disorder of glycosylation ik", + "output": "A congenital disorder of glycosylation i that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13." + }, + { + "input": "congenital disorder of glycosylation il", + "output": "A congenital disorder of glycosylation i that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the alg9 gene on chromosome 11q23." + }, + { + "input": "congenital disorder of glycosylation im", + "output": "A congenital disorder of glycosylation i that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the dolk gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34." + }, + { + "input": "congenital disorder of glycosylation in", + "output": "A congenital disorder of glycosylation i that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the rft1 gene on chromosome 3p21." + }, + { + "input": "congenital disorder of glycosylation ip", + "output": "A congenital disorder of glycosylation i that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the alg11 gene on chromosome 13q14." + }, + { + "input": "congenital disorder of glycosylation iq", + "output": "A congenital disorder of glycosylation i that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the srd5a3 gene on chromosome 4q12." + }, + { + "input": "congenital disorder of glycosylation ir", + "output": "A congenital disorder of glycosylation i that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the ddost gene on chromosome 1p36." + }, + { + "input": "congenital disorder of glycosylation it", + "output": "A congenital disorder of glycosylation i that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the pgm1 gene on chromosome 1p31." + }, + { + "input": "congenital disorder of glycosylation iu", + "output": "A congenital disorder of glycosylation i that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the dpm2 gene on chromosome 9q34." + }, + { + "input": "congenital disorder of glycosylation iw", + "output": "A congenital disorder of glycosylation i that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the stt3a gene on chromosome 11q24." + }, + { + "input": "congenital disorder of glycosylation ix", + "output": "A congenital disorder of glycosylation i that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the stt3b gene on chromosome 3p23." + }, + { + "input": "congenital disorder of glycosylation iy", + "output": "A congenital disorder of glycosylation i that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the ssr4 gene on chromosome xq28." + }, + { + "input": "larsen-like syndrome b3gat3 type", + "output": "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the b3gat3 gene on chromosome 11q12." + }, + { + "input": "spondyloepimetaphyseal dysplasia, genevieve-type", + "output": "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the nans gene on chromosome 9q22." + }, + { + "input": "polygenic disease", + "output": "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci." + }, + { + "input": "digenic disease", + "output": "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes." + }, + { + "input": "3-methylcrotonyl-coa carboxylase 1 deficiency", + "output": "A 3-methylcrotonyl-coa carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-coa carboxylase on chromosome 3q27." + }, + { + "input": "3-methylcrotonyl-coa carboxylase 2 deficiency", + "output": "A 3-methylcrotonyl-coa carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-coa carboxylase on chromosome 5q13." + }, + { + "input": "hyperekplexia 4", + "output": "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the atad1 gene on chromosome 10q23." + }, + { + "input": "hypotrichosis 14", + "output": "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the lss gene on chromosome 21q22." + }, + { + "input": "wolfram syndrome, mitochondrial form", + "output": "A wolfram syndrome that has_material_basis_in mutation in mtdna." + }, + { + "input": "autosomal dominant wolfram syndrome", + "output": "A wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the wfs1 gene on chromosome 4p16." + }, + { + "input": "van maldergem syndrome 1", + "output": "A van maldergem syndrome that has_material_basis_in homozygous mutation in the dchs1 gene on chromosome 11p15." + }, + { + "input": "van maldergem syndrome 2", + "output": "A van malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the fat4 gene on chromosome 4q28." + }, + { + "input": "congenital myasthenic syndrome 22", + "output": "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the prepl gene on chromosome 2p21." + }, + { + "input": "agammaglobulinemia 5", + "output": "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the lrrc8a gene on chromosome 9q34." + }, + { + "input": "klippel-feil syndrome 1", + "output": "A klippel-feil syndrome that has_material_basis_in heterozygous mutation in the gdf6 gene on chromosome 8q22." + }, + { + "input": "klippel-feil syndrome 2", + "output": "A klippel-feil syndrome that has_material_basis_in homozygous mutation in the meox1 gene on chromosome 17q21." + }, + { + "input": "klippel-feil syndrome 3", + "output": "A klippel-feil syndrome that has_material_basis_in heterozygous mutation in the gdf3 gene on chromosome 12p13." + }, + { + "input": "klippel-feil syndrome 4", + "output": "A klippel-feil syndrome that has_material_basis_in homozygous mutation in the myo18b gene on chromosome 22q12." + }, + { + "input": "orofacial cleft 6", + "output": "An orofacial cleft that has_material_basis_in variation in an enhancer of the irf6 gene on chromosome 1q32." + }, + { + "input": "hyper ige recurrent infection syndrome 2", + "output": "A hyper ige syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the dock8 gene on chromosome 9p24." + }, + { + "input": "hyper ige recurrent infection syndrome 3", + "output": "A hyper ige syndrome that has_material_basis_in homozygous mutation in the znf341 gene on chromosome 20q11." + }, + { + "input": "hyper ige recurrent infection syndrome 4", + "output": "A hyper ige syndrome that has_material_basis_in homozygous mutation in the il6st gene on chromosome 5q11." + }, + { + "input": "kleefstra syndrome", + "output": "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone." + }, + { + "input": "kleefstra syndrome 2", + "output": "A kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the kmt2c gene on chromosome 7q36." + }, + { + "input": "coronavirus infectious disease", + "output": "A viral infectious disease that has_material_basis_in coronavirus." + }, + { + "input": "covid-19", + "output": "A coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in sars-cov-2." + }, + { + "input": "germ cell benign neoplasm", + "output": "A benign neoplasm that derives_from germ cells." + }, + { + "input": "benign teratoma", + "output": "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements." + }, + { + "input": "ankylosing spondylitis 1", + "output": "A ankylosing spondylitis that has_material_basis_in variation in the hla-b27 allele on chromosome 6p21.3." + }, + { + "input": "ankylosing spondylitis 2", + "output": "A ankylosing spondylitis that has_material_basis_in variation in the hla-b27 allele on chromosome 9q31-q34." + }, + { + "input": "ankylosing spondylitis 3", + "output": "A ankylosing spondylitis that has_material_basis_in variation in the hla-b allele on chromosome 2q36.1-q36.3." + }, + { + "input": "anterior segment dysgenesis 1", + "output": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the pitx3 gene on chromosome 10q24." + }, + { + "input": "anterior segment dysgenesis 2", + "output": "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the foxe3 gene on chromosome 1p33." + }, + { + "input": "anterior segment dysgenesis 3", + "output": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the foxc1 gene on chromosome 6p25." + }, + { + "input": "anterior segment dysgenesis 4", + "output": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the pitx2 gene on chromosome 4q25." + }, + { + "input": "anterior segment dysgenesis 5", + "output": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the pax6 gene on chromosome 11p13." + }, + { + "input": "anterior segment dysgenesis 6", + "output": "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the cyp1b1 gene on chromosome 2p22." + }, + { + "input": "anterior segment dysgenesis 7", + "output": "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the pxdn gene on chromosome 2p25." + }, + { + "input": "anterior segment dysgenesis 8", + "output": "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the cpamd8 gene on chromosome 19p13." + }, + { + "input": "oculocutaneous albinism type vi", + "output": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the slc24a5 gene on chromosome 15q21.1." + }, + { + "input": "nephroma", + "output": "A kidney benign neoplasm that is located_in the kidney cortex." + }, + { + "input": "kidney cortex disease", + "output": "A kidney disease that is located_in the kidney cortex." + }, + { + "input": "lymph node benign neoplasm", + "output": "An immune system organ benign neoplasm that is located_in the lymph nodes." + }, + { + "input": "lymph node carcinoma", + "output": "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "auditory system benign neoplasm", + "output": "A sensory system benign neoplasm that is located in the auditory system." + }, + { + "input": "familial glucocorticoid deficiency", + "output": "An adrenal cortex disease that is characterized by insufficent production of glucocorticoids." + }, + { + "input": "glucocorticoid deficiency 1", + "output": "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11." + }, + { + "input": "peroxisome biogenesis disorder 2b", + "output": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the pex5 gene on chromosome 12p13.3." + }, + { + "input": "heimler syndrome 1", + "output": "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the pex1 gene on chromosome 7q21." + }, + { + "input": "heimler syndrome 2", + "output": "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the pex6 gene on chromosome 6p21." + }, + { + "input": "severe congenital neutropenia 1", + "output": "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13." + }, + { + "input": "corticosterone methyloxidase deficiency 1", + "output": "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life." + }, + { + "input": "alopecia-mental retardation syndrome", + "output": "A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability." + }, + { + "input": "alopecia-mental retardation syndrome 1", + "output": "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the ahsg gene on chromosome 3q27." + }, + { + "input": "alopecia-mental retardation syndrome 2", + "output": "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma", + "output": "A b-cell acute lymphoblastic leukemia that is characterized by the presence of too many b-cell lymphoblasts in the blood and bone marrow." + }, + { + "input": "elsahy-waters syndrome", + "output": "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at c2-c3; and moderate mental retardation." + }, + { + "input": "fazio-londe disease", + "output": "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the c20orf54 gene on chromosome 20p13." + }, + { + "input": "developmental cardiac valvular defect", + "output": "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the pld1 gene on chromosome 3q26." + }, + { + "input": "nanophthalmos", + "output": "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma." + }, + { + "input": "optic disc anomalies with retinal and/or macular dystrophy", + "output": "A microphthalmia that has_material_basis_in homozygous mutation in the six6 gene on chromosome 14q23." + }, + { + "input": "syndromic microphthalmia", + "output": "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body." + }, + { + "input": "isolated microphthalmia", + "output": "A microphthalmia that occurs by itself." + }, + { + "input": "b-cell acute lymphoblastic leukemia", + "output": "An acute lymphocytic leukemia characterized by too many b-cell lymphoblasts (immature white blood cells) in the bone marrow and blood." + }, + { + "input": "bone sarcoma", + "output": "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." + }, + { + "input": "gallbladder benign neoplasm", + "output": "A biliary tract benign neoplasm that is located_in the gallbladder." + }, + { + "input": "tongue carcinoma", + "output": "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue." + }, + { + "input": "middle east respiratory syndrome", + "output": "A coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in mers-cov." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma with bcr-abl1", + "output": "A b-lymphoblastic leukemia/lymphoma that derives_from b-lymphoblasts and carries a translocation between the bcr gene on chromosome 22 and the abl1 gene on chromosome 9. it results in the production of the p190 kd or p210 kd fusion protein." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma mll rearranged", + "output": "A b-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the kmt2a gene at 11q23.3 and another gene partner resulting in the production of a kmt2a related fusion protein." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma with etv6-runx1", + "output": "A b-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the tel gene on chromosome 12 and the aml1 gene on chromosome 21, (p13.2;q22.1). it results in the production of the tel-aml1 (etv6-runx1) fusion protein." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma with hyperdiploidy", + "output": "A b-lymphoblastic leukemia/lymphoma that is composed of b-lymphoblasts which contain more than 50 and usually less than 66 chromosomes." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma with hypodiploidy", + "output": "A b-lymphoblastic leukemia/lymphoma that is composed of b-lymphoblasts which contain less than 46 chromosomes." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma with il3-igh", + "output": "A b-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the il3 gene on chromosome 5 and the igh locus on chromosome 14, (q31.1;q32.3)." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma with tcf3-pbx1", + "output": "A b-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the e2a gene on chromosome 19 and the pbx1 gene on chromosome 1." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma, bcr-abl1\u2013like", + "output": "A b-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of b-all with t(9;22)(q34.1;q11.2) bcr-abl1, but lacks that gene fusion." + }, + { + "input": "b-lymphoblastic leukemia/lymphoma with iamp21", + "output": "A b-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21." + }, + { + "input": "calcium oxalate nephrolithiasis", + "output": "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the slc26a1 gene on chromosome 4p16." + }, + { + "input": "urolithiasis", + "output": "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract." + }, + { + "input": "uric acid urolithiasis", + "output": "An urolithiasis in which the composition of the stones is predominantly urate." + }, + { + "input": "hypophosphatemic nephrolithiasis/osteoporosis", + "output": "A kidney disease that is characterized by formation of renal calcium\\nstones or bone demineralization." + }, + { + "input": "45,x/46,xy mixed gonadal dysgenesis", + "output": "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,x/46,xy." + }, + { + "input": "nonsyndromic aplasia cutis congenita", + "output": "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the bms1 gene on chromosome 10q11." + }, + { + "input": "atrial standstill 1", + "output": "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the scn5a gene in combination with a rare connexin-40 genotype." + }, + { + "input": "atrial standstill 2", + "output": "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the nppa gene on chromosome 1p36." + }, + { + "input": "diaphyseal medullary stenosis with malignant fibrous histiocytoma", + "output": "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the mtap gene on chromosome 9p21." + }, + { + "input": "warfarin resistance", + "output": "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin." + }, + { + "input": "warfarin sensitivity", + "output": "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin." + }, + { + "input": "spinal muscular atrophy type 0", + "output": "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles." + }, + { + "input": "posterior polymorphous corneal dystrophy 4", + "output": "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the grhl2 gene on chromosome 8q22." + }, + { + "input": "meesmann corneal dystrophy 1", + "output": "A messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the krt12 gene on chromosome 17q21." + }, + { + "input": "meesmann corneal dystrophy 2", + "output": "A messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the krt3 gene on chromosome 12q13." + }, + { + "input": "fibrochondrogenesis 1", + "output": "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the col11a1 gene on chromosome 1p21." + }, + { + "input": "fibrochondrogenesis 2", + "output": "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the col11a2 gene on chromosome 6p21.3." + }, + { + "input": "luminal breast carcinoma b", + "output": "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (er), and high expression of ggh, laptm4b, and ccne1." + }, + { + "input": "stickler syndrome 2", + "output": "A stickler syndrome that has_material_basis_in heterozygous mutation in the col11a1 gene on chromosome 1p21." + }, + { + "input": "stickler syndrome 1", + "output": "A stickler syndrome that has_material_basis_in heterozygous mutation in the col2a1 gene on chromosome 12q13." + }, + { + "input": "otospondylomegaepiphyseal dysplasia, autosomal dominant", + "output": "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the col11a2 gene." + }, + { + "input": "mucolipidosis iii gamma", + "output": "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of n-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay." + }, + { + "input": "neuronal intestinal dysplasia type a", + "output": "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine." + }, + { + "input": "neuronal intestinal dysplasia type b", + "output": "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus." + }, + { + "input": "x-linked chronic idiopathic intestinal pseudo-obstruction", + "output": "An intestinal pseudo-obstruction that has_material_basis_in mutations in the flna gene on chromosome xq28." + }, + { + "input": "autosomal dominant familial visceral neuropathy", + "output": "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait." + }, + { + "input": "nonsyndromic congenital nail disorder", + "output": "A nail disease that is characterized by underdevelopment of nails." + }, + { + "input": "diffuse midline glioma, h3 k27m-mutant", + "output": "A histone mutated tumor that is characterized by the presence of histone h3 k27m mutation located throughout the midline structures of the central nervous system." + }, + { + "input": "aortic dissection", + "output": "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall." + }, + { + "input": "tubular aggregate myopathy 2", + "output": "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the orai1 gene on chromosome 12q24." + }, + { + "input": "reducing body myopathy 1b", + "output": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the fhl1 gene on chromosome xq26." + }, + { + "input": "mosaic variegated aneuploidy syndrome", + "output": "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes." + }, + { + "input": "mosaic variegated aneuploidy syndrome 3", + "output": "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the trip13 gene on chromosome 5p15 that results in no detectable trip13 protein." + }, + { + "input": "rasopathy", + "output": "A syndrome that has_material_basis_in mutations in genes that alter the ras subfamily and mitogen-activated protein kinases that control signal transduction." + }, + { + "input": "noonan syndrome-like disorder with loose anagen hair", + "output": "A rasopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay." + }, + { + "input": "noonan syndrome-like disorder with loose anagen hair 1", + "output": "A noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the shoc2 gene on chromosome 10q25." + }, + { + "input": "noonan syndrome-like disorder with loose anagen hair 2", + "output": "A noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the ppp1cb gene on chromosome 2p23." + }, + { + "input": "galloway-mowat syndrome", + "output": "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy." + }, + { + "input": "burn-mckeown syndrome", + "output": "A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, \\nhearing loss, heart abnormalities, and short stature." + }, + { + "input": "winchester syndrome", + "output": "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet." + }, + { + "input": "opitz gbbb syndrome", + "output": "A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the mid1 gene on chromosome xp22." + }, + { + "input": "teebi hypertelorism syndrome 1", + "output": "A teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the specc1l gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2." + }, + { + "input": "glutathione synthetase deficiency", + "output": "An amino acid metabolic disorder characterized by the lack of glutathione production." + }, + { + "input": "caudal regression syndrome", + "output": "A physical disorder that is characterized by impairment of the development of the lower half of the body." + }, + { + "input": "prothrombin thrombophilia", + "output": "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (f2 gene) on chromosome 11p11." + }, + { + "input": "medulloblastoma wnt activated", + "output": "A medulloblastoma that is characterized as a molecular subtype by activation of the wnt pathway and tp53 mutations may be present or absent." + }, + { + "input": "medulloblastoma shh activated", + "output": "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (shh) pathway and tp53 mutations that may be present or absent." + }, + { + "input": "medulloblastoma shh activated and tp53 mutant", + "output": "A medulloblastoma shh activated that is characterized as a molecular subtype by activation of the sonic hedgehog (shh) pathway and the presence of tp53 mutations." + }, + { + "input": "medulloblastoma shh activated and tp53 wild-type", + "output": "A medulloblastoma shh activated that is characterized as a molecular subtype by activation of the sonic hedgehog (shh) pathway and the absence of tp53 mutations." + }, + { + "input": "medulloblastoma non-wnt/non-shh", + "output": "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the wnt pathway or sonic hedgehog (shh) pathway and tp53 mutations are absent." + }, + { + "input": "medulloblastoma non-wnt/non-shh group 3", + "output": "A medulloblastoma non-wnt/non-shh that is characterized as a molecular subtype by absent tp53 mutations and myc amplifications that may be present." + }, + { + "input": "medulloblastoma non-wnt/non-shh group 4", + "output": "A medulloblastoma non-wnt/non-shh that is characterized as a molecular subtype by the absence of myc amplifications and tp53 mutations, while chromosome 17 abnormalities may be present." + }, + { + "input": "nk cell deficiency", + "output": "A primary immunodeficiency disease that results from defeciency in the number or function of cd56+cd3\u2212 nk cell in peripheral blood." + }, + { + "input": "t cell and nk cell immunodeficiency", + "output": "A primary immunodeficiency disease that involves multiple components of the immune system, including both t cell and nk cell immunodeficiency." + }, + { + "input": "multisystem inflammatory syndrome in children", + "output": "A coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for sars-cov-2 or had exposure to covid-19." + }, + { + "input": "gene duplication disease", + "output": "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene." + }, + { + "input": "hereditary alpha tryptasemia syndrome", + "output": "A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (tpsab1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems." + }, + { + "input": "developmental and epileptic encephalopathy 82", + "output": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the got2 gene on chromosome 16q21." + }, + { + "input": "infantile liver failure syndrome", + "output": "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate." + }, + { + "input": "infantile liver failure syndrome 1", + "output": "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the lars gene (lars1) on chromosome 5q32." + }, + { + "input": "gne myopathy", + "output": "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the gne gene which encodes the rate-limiting enzyme of sialic acid biosynthesis." + }, + { + "input": "congenital myopathy 6", + "output": "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain iia ( (myhc2a or myh2) on chromosome 17p13." + }, + { + "input": "autosomal dominant congenital deafness with onychodystrophy", + "output": "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the atp6v1b2 gene on chromosome 8p21." + }, + { + "input": "calvarial doughnut lesions with bone fragility", + "output": "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones." + }, + { + "input": "kenny-caffey syndrome type 1", + "output": "A kenny-caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the tbce gene, encoding tubulin-specific chaperone e, on chromosome 1q42." + }, + { + "input": "kenny-caffey syndrome type 2", + "output": "A kenny-caffey syndrome that has_material_basis_in heterozygous mutation in the fam111a gene on chromosome 11q12." + }, + { + "input": "kenny-caffey syndrome", + "output": "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia." + }, + { + "input": "basan syndrome", + "output": "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet." + }, + { + "input": "ehlers-danlos syndrome classic type 2", + "output": "An ehlers-danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(v) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars." + }, + { + "input": "ehlers-danlos syndrome arthrochalasia type 1", + "output": "An ehlers-danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the col1a1 gene on chromosome 17q21." + }, + { + "input": "ehlers-danlos syndrome arthrochalasia type 2", + "output": "An ehlers-danlos syndrome that has_material_basis_in heterozygous mutation in the col1a2 gene on chromosome 7q21." + }, + { + "input": "brittle cornea syndrome 2", + "output": "An ehlers-danlos syndrome that has_material_basis_in homozygous mutation in the prdm5 gene on chromosome 4q27." + }, + { + "input": "ehlers-danlos syndrome cardiac valvular type", + "output": "An ehlers-danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the col1a2 gene on chromosome 7q21." + }, + { + "input": "ehlers-danlos syndrome classic-like 1", + "output": "An ehlers-danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-xb gene (tnxb) on chromosome 6p21." + }, + { + "input": "ehlers-danlos syndrome classic-like 2", + "output": "An ehlers-danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the aebp1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations." + }, + { + "input": "ehlers-danlos syndrome dermatosparaxis type", + "output": "An ehlers-danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease adamts2 on chromosome 5q35." + }, + { + "input": "ehlers-danlos syndrome kyphoscoliotic type 1", + "output": "An ehlers-danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (plod1) on chromosome 1p36." + }, + { + "input": "ehlers-danlos syndrome kyphoscoliotic type 2", + "output": "An ehlers-danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the fkbp14 gene on chromosome 7p15." + }, + { + "input": "ehlers-danlos syndrome musculocontractural type 1", + "output": "An ehlers-danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the chst14 gene on chromosome 15q14." + }, + { + "input": "ehlers-danlos syndrome musculocontractural type 2", + "output": "An ehlers-danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the dse gene on chromosome 6q22." + }, + { + "input": "ehlers-danlos syndrome spondylodysplastic type 1", + "output": "An ehlers-danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of ehlers-danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the b4galt7 gene on chromosome 5q35." + }, + { + "input": "ehlers-danlos syndrome spondylodysplastic type 3", + "output": "An ehlers-danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene slc39a13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features." + }, + { + "input": "libman-sacks endocarditis", + "output": "An endocarditis that is characterized by libman-sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease." + }, + { + "input": "limbic encephalitis", + "output": "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes." + }, + { + "input": "autoimmune cholangitis", + "output": "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera." + }, + { + "input": "transverse myelitis", + "output": "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below." + }, + { + "input": "antisynthetase syndrome", + "output": "An autoimmune disease that is characterized by myositis, arthralgia, raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer rna synthetases." + }, + { + "input": "polymyositis", + "output": "A myositis that is characterized by muscle weakness affecting both sides of your body." + }, + { + "input": "sweet syndrome", + "output": "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions." + }, + { + "input": "chronic urticaria", + "output": "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week." + }, + { + "input": "chronic inducible urticaria", + "output": "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours." + }, + { + "input": "chronic spontaneous urticaria", + "output": "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus." + }, + { + "input": "erythema nodosum", + "output": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter." + }, + { + "input": "keratosis pilaris atrophicans", + "output": "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin." + }, + { + "input": "keratosis pilaris atrophicans faciei", + "output": "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area." + }, + { + "input": "keratosis follicularis spinulosa decalvans", + "output": "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma." + }, + { + "input": "x-linked keratosis follicularis spinulosa decalvans", + "output": "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the mbtps2 gene." + }, + { + "input": "autosomal dominant keratosis follicularis spinulosa decalvans", + "output": "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "atrophoderma vermiculata", + "output": "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead." + }, + { + "input": "fanconi renotubular syndrome 1", + "output": "A fanconi syndrome that has_material_basis_in heterozygous mutation in the gatm gene on chromosome 15q21." + }, + { + "input": "fanconi renotubular syndrome 2", + "output": "A fanconi syndrome that has_material_basis_in homozygous mutation in the slc34a1 gene on chromosome 5q35." + }, + { + "input": "fanconi renotubular syndrome 3", + "output": "A fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the ehhadh gene on chromosome 3q27." + }, + { + "input": "fanconi renotubular syndrome 4", + "output": "A fanconi syndrome that has_material_basis_in heterozygous mutation in the hnf4a gene on chromosome 20q13." + }, + { + "input": "fanconi renotubular syndrome 5", + "output": "A fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the ndufaf6 gene on chromosome 8q22." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2z", + "output": "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the poglut1 gene on chromosome 3q13." + }, + { + "input": "diffuse gastric cancer", + "output": "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining." + }, + { + "input": "hereditary diffuse gastric cancer", + "output": "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of cdh1, map3k6 and ctnna1 genes." + }, + { + "input": "autosomal recessive intellectual developmental disorder 72", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the mettl5 gene on chromosome 2q31." + }, + { + "input": "erythrokeratodermia variabilis et progressiva 6", + "output": "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the trpm4 gene on chromosome 19q13." + }, + { + "input": "autoimmune myocarditis", + "output": "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle." + }, + { + "input": "pyridoxine-dependent epilepsy", + "output": "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine." + }, + { + "input": "early-onset vitamin b6-dependent epilepsy", + "output": "An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin b6 (pyridoxal 5-prime-phosphate; plp) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the prosc gene (plpbp) on chromosome 8p11." + }, + { + "input": "autosomal dominant beta thalassemia", + "output": "A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated hbb gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia." + }, + { + "input": "beta-thalassemia major", + "output": "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age." + }, + { + "input": "beta-thalassemia intermedia", + "output": "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life." + }, + { + "input": "delta beta-thalassemia", + "output": "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. this disorder results in a microcytic anemia that is clinically mild." + }, + { + "input": "thalassemia minor", + "output": "A beta thalassemia that has_material_basis_in one hbb gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia." + }, + { + "input": "complete androgen insensitivity syndrome", + "output": "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus." + }, + { + "input": "partial androgen insensitivity syndrome", + "output": "An androgen insensitivity syndrome that is characterized by a 46,xy karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action." + }, + { + "input": "lung sarcomatoid carcinoma", + "output": "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation." + }, + { + "input": "transient infantile liver failure", + "output": "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the trmu gene, which is involved in mitochondrial protein translation, on chromosome 22q13." + }, + { + "input": "plasmablastic lymphoma", + "output": "A diffuse large b-cell lymphoma that is characterized by the presence of large neoplastic cells resembling b-immunoblasts which have the immunophenotypic profile of plasma cells." + }, + { + "input": "acute erythroid leukemia", + "output": "An acute myeloid leukemia that is characterized by a predominant immature erythroid population." + }, + { + "input": "benign exocrine pancreas neoplasm", + "output": "An endocrine organ benign neoplasm arising from the exocrine pancreas." + }, + { + "input": "mucinous pancreas adenocarcinoma", + "output": "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." + }, + { + "input": "urinary tract infection", + "output": "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra." + }, + { + "input": "brown-vialetto-van laere syndrome 1", + "output": "A brown-vialetto-van laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the c20orf54 gene (slc52a3) on chromosome 20p13." + }, + { + "input": "brown-vialetto-van laere syndrome 2", + "output": "A brown-vialetto-van laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the slc52a2 gene on chromosome 8q24." + }, + { + "input": "proximal symphalangism 1", + "output": "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the nog gene on chromosome 17q22." + }, + { + "input": "proximal symphalangism 2", + "output": "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the gdf5 gene on chromosome 20q11." + }, + { + "input": "treacher collins syndrome 1", + "output": "A treacher collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (tcof1) on chromosome 5q32." + }, + { + "input": "treacher collins syndrome 2", + "output": "A treacher collins syndrome that has_material_basis_in heterozygous mutation in the polr1d gene on chromosome 13q12." + }, + { + "input": "treacher collins syndrome 3", + "output": "A treacher collins syndrome that has_material_basis_in compound heterozygous mutation in the polr1c gene on chromosome 6p21." + }, + { + "input": "treacher collins syndrome 4", + "output": "A treacher collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the polr1b gene on chromosome 2q14." + }, + { + "input": "childhood acute megakaryoblastic leukemia", + "output": "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood." + }, + { + "input": "acute basophilic leukemia", + "output": "An acute myeloid leukemia that is characterized by primary differentiation to basophils." + }, + { + "input": "core binding factor acute myeloid leukemia", + "output": "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). these cytogenetic abnormalities result in disruption of the transcription factor cbf, which is a regulator of normal hematopoiesis." + }, + { + "input": "nasal type extranodal nk/t-cell lymphoma", + "output": "A mature t-cell and nk-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of ebv positive nk/t cells." + }, + { + "input": "myeloid leukemia associated with down syndrome", + "output": "An acute megakaryocytic leukemia occurring in children with down syndrome and that has_material_basis_in mutation in the gata1 gene." + }, + { + "input": "sinonasal undifferentiated carcinoma", + "output": "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells." + }, + { + "input": "salivary gland mucinous adenocarcinoma", + "output": "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found." + }, + { + "input": "autosomal dominant craniometaphyseal dysplasia", + "output": "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ankh gene on chromosome 5p15." + }, + { + "input": "autosomal recessive craniometaphyseal dysplasia", + "output": "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the gja1 gene on chromosome 6q22." + }, + { + "input": "cranioectodermal dysplasia 1", + "output": "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ift122 gene on chromosome 3q21." + }, + { + "input": "cranioectodermal dysplasia 2", + "output": "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the wdr35 gene on chromosome 2p24." + }, + { + "input": "cranioectodermal dysplasia 3", + "output": "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the ift43 gene on chromosome 14q24." + }, + { + "input": "cranioectodermal dysplasia 4", + "output": "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the wdr19 gene on chromosome 4p14." + }, + { + "input": "autosomal dominant craniodiaphyseal dysplasia", + "output": "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the sost gene on chromosome 17q21." + }, + { + "input": "mammary analogue secretory carcinoma", + "output": "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an etv6-ntrk3 fusion gene." + }, + { + "input": "chronic asthma", + "output": "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency." + }, + { + "input": "acute asthma", + "output": "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment." + }, + { + "input": "extrinsic asthma", + "output": "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin e (ige) antibodies." + }, + { + "input": "intermittent asthma", + "output": "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity." + }, + { + "input": "persistent mild asthma", + "output": "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity." + }, + { + "input": "persistent moderate asthma", + "output": "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity." + }, + { + "input": "childhood-onset asthma", + "output": "A chronic asthma that is characterized by first presentation in early childhood." + }, + { + "input": "adult-onset severe asthma", + "output": "A chronic asthma that is characterized by first presentation in adulthood." + }, + { + "input": "t2-high asthma", + "output": "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease." + }, + { + "input": "t2-low asthma", + "output": "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40\u201360%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy." + }, + { + "input": "environmental induced asthma", + "output": "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter." + }, + { + "input": "occupational asthma", + "output": "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace." + }, + { + "input": "exercise-induced bronchoconstriction", + "output": "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise." + }, + { + "input": "aspirin-induced respiratory disease", + "output": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs." + }, + { + "input": "near-fatal asthma", + "output": "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmhg, with or without altered consciousness, requiring mechanical ventilation." + }, + { + "input": "persistent severe asthma", + "output": "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity." + }, + { + "input": "thunderstorm triggered asthma", + "output": "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen." + }, + { + "input": "nocturnal asthma", + "output": "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. during sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. the overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways." + }, + { + "input": "human cytomegalovirus infection", + "output": "A viral infectious disease that has_material_basis_in human betaherpesvirus 5." + }, + { + "input": "vexas syndrome", + "output": "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the uba1 gene on chromosome xp11." + }, + { + "input": "low grade glioma", + "output": "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes)." + }, + { + "input": "childhood low-grade glioma", + "output": "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology." + }, + { + "input": "subjective cognitive decline", + "output": "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints." + }, + { + "input": "mild cognitive impairment", + "output": "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living." + }, + { + "input": "laryngomalacia", + "output": "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. the most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying." + }, + { + "input": "acquired laryngomalacia", + "output": "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures." + }, + { + "input": "torch syndrome", + "output": "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms." + }, + { + "input": "growth hormone insensitivity syndrome with immune dysregulation 1", + "output": "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the stat5b gene on chromosome 17q21." + }, + { + "input": "growth hormone insensitivity syndrome with immune dysregulation 2", + "output": "A syndrome that is characterized by short stature due to insensitivity to growth hormone and\\nthat has_material_basis_in heterozygous mutation in the stat5b gene on chromosome 17q21." + }, + { + "input": "x-linked warfarin sensitivity", + "output": "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the f9 gene on chromosome xq27." + }, + { + "input": "optic atrophy 12", + "output": "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the afg3l2 gene on chromosome 18p11." + }, + { + "input": "pemphigoid", + "output": "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily." + }, + { + "input": "intracranial meningioma", + "output": "A meningioma that arises within the cranial cavity." + }, + { + "input": "supratentorial meningioma", + "output": "A meningioma that affects the supratentorial brain." + }, + { + "input": "omodysplasia 1", + "output": "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the gpc6 gene on chromosome 13q32." + }, + { + "input": "omodysplasia 2", + "output": "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the fzd2 gene on chromosome 17q21." + }, + { + "input": "latent autoimmune diabetes in adults", + "output": "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable \u03b2-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus." + }, + { + "input": "long covid", + "output": "A coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with covid-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia." + }, + { + "input": "ocular motor apraxia, cogan type", + "output": "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements." + }, + { + "input": "pemphigus foliaceus", + "output": "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin." + }, + { + "input": "iga pemphigus", + "output": "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. these eruptions form as a result of circulating iga antibodies against keratinocyte cell surface components responsible for cell to cell adherence." + }, + { + "input": "paraneoplastic pemphigus", + "output": "A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin." + }, + { + "input": "anaplastic pleomorphic xanthoastrocytoma", + "output": "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields." + }, + { + "input": "parkinsonism", + "output": "A movement disorder that is characterized by disturbances of balance, gait and posture." + }, + { + "input": "vascular parkinsonism", + "output": "A parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin." + }, + { + "input": "primary ovarian insufficiency 1", + "output": "A primary ovarian insufficiency that has_material_basis_in premutations in the fmr1 gene on chromosome xq27.3, within a region defined as pof1 (xq26-q28)." + }, + { + "input": "primary ovarian insufficiency 2a", + "output": "A primary ovarian insufficiency that has_material_basis_in mutation in the diaph2 gene on chromosome xq22." + }, + { + "input": "primary ovarian insufficiency 2b", + "output": "A primary ovarian insufficiency that has_material_basis_in mutation in the pof1b gene." + }, + { + "input": "primary ovarian insufficiency 3", + "output": "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the foxl2 gene on chromosome 3q22." + }, + { + "input": "primary ovarian insufficiency 4", + "output": "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the bmp15 gene on chromosome xp11." + }, + { + "input": "primary ovarian insufficiency 5", + "output": "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the nobox gene on chromosome 7q35." + }, + { + "input": "primary ovarian insufficiency 6", + "output": "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the figla gene on chromosome 2p13." + }, + { + "input": "primary ovarian insufficiency 7", + "output": "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the nr5a1 gene on chromosome 9q33." + }, + { + "input": "primary ovarian insufficiency 8", + "output": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the stag3 gene on chromosome 7q22." + }, + { + "input": "primary ovarian insufficiency 9", + "output": "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the hfm1 gene on chromosome 1p22." + }, + { + "input": "primary ovarian insufficiency 10", + "output": "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the mcm8 gene on chromosome 20p." + }, + { + "input": "primary ovarian insufficiency 11", + "output": "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ercc6 gene on chromosome 10q11." + }, + { + "input": "primary ovarian insufficiency 12", + "output": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the syce1 gene on chromosome 10q26." + }, + { + "input": "primary ovarian insufficiency 13", + "output": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the msh5 gene on chromosome 6p21." + }, + { + "input": "primary ovarian insufficiency 14", + "output": "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the gdf9 gene on chromosome 5q31." + }, + { + "input": "primary ovarian insufficiency 15", + "output": "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the fancm gene on chromosome 14q21." + }, + { + "input": "primary ovarian insufficiency 16", + "output": "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the bnc1 gene on chromosome 15q25." + }, + { + "input": "primary ovarian insufficiency 17", + "output": "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the xrcc2 gene on chromosome 7q36." + }, + { + "input": "idh-mutant anaplastic astrocytoma", + "output": "An anaplastic astrocytoma carrying idh mutations." + }, + { + "input": "idh-wildtype anaplastic astrocytoma", + "output": "An anaplastic astrocytoma lacking mutations in idh1 or idh2 genes." + }, + { + "input": "astrocytoma, idh-mutant, grade 4", + "output": "An idh-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of cdkn2a and/or cdkn2b genes. the term glioblastoma no longer applies to central nervous system who grade 4 idh-mutant astrocytomas." + }, + { + "input": "idh-wildtype glioblastoma", + "output": "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in idh genes." + }, + { + "input": "histone mutated tumor", + "output": "A high grade glioma that has_material_basis_in mutations in the genes encoding histones." + }, + { + "input": "diffuse glioma, h3 g34 mutant", + "output": "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the h3 histone family 3a protein." + }, + { + "input": "pleomorphic xanthoastrocytoma braf mutant", + "output": "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in braf mutations." + }, + { + "input": "idh-mutant and 1p/19q-codeleted oligodendroglioma", + "output": "An anaplastic oligodendroglioma that has_material_basis_in idh gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion)." + }, + { + "input": "vitamin d-dependent rickets", + "output": "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia." + }, + { + "input": "vitamin d-dependent rickets type 2a", + "output": "A vitamin d-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin d receptor (vdr) on chromosome 12q." + }, + { + "input": "vitamin d-dependent rickets type 2b", + "output": "A vitamin d-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin d receptor." + }, + { + "input": "vitamin d-dependent rickets type 1a", + "output": "A vitamin d-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin d3-1-alpha-hydroxylase (cyp27b1) on chromosome 12q13." + }, + { + "input": "vitamin d-dependent rickets type 1b", + "output": "A vitamin d-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the cyp2r1 gene on chromosome 11p15." + }, + { + "input": "spinal ependymoma, mycn-amplified", + "output": "A spinal cord ependymoma that is characterized by mycn amplification." + }, + { + "input": "posterior fossa ependymoma", + "output": "A high grade ependymoma that is located within the posterior fossa." + }, + { + "input": "supratentorial ependymoma", + "output": "A high grade ependymoma that is located within the supratentorial brain." + }, + { + "input": "yap1-mamld1 fusion-positive supratentorial ependymoma", + "output": "A supratentorial ependymoma that has_material_basis_in yap1-mamld1 fusion." + }, + { + "input": "rela fusion-positive ependymoma", + "output": "A supratentorial ependymoma that has_material_basis_in presence of a rela fusion gene." + }, + { + "input": "bainbridge-ropers syndrome", + "output": "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the asxl3 gene on chromosome 18q12." + }, + { + "input": "lipofibromatosis-like neural tumor", + "output": "A connective tissue cancer that has_material_basis_in lmna-ntrk1 gene fusion." + }, + { + "input": "rapidly involuting congenital hemangioma", + "output": "A hemangioma that is characterized by complete regression." + }, + { + "input": "pericytoma with t(7;12)", + "output": "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant actb-gli1 fusion." + }, + { + "input": "solitary fibrous tumor/hemangiopericytoma", + "output": "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas." + }, + { + "input": "cerebellofaciodental syndrome", + "output": "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the brf1 gene on chromosome 14q32." + }, + { + "input": "lung pleomorphic carcinoma", + "output": "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung." + }, + { + "input": "oral rhabdomyosarcoma", + "output": "A rhabdomyosarcoma located in the oral cavity." + }, + { + "input": "bladder sarcomatoid transitional cell carcinoma", + "output": "A sarcomatoid transitional cell carcinoma that is located_in the bladder." + }, + { + "input": "bladder small cell carcinoma", + "output": "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells." + }, + { + "input": "embryonal tumor with multilayered rosettes, c19mc-altered", + "output": "An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the c19mc region on chromosome 19 (19q13.42)." + }, + { + "input": "astroblastoma, mn1-altered", + "output": "An astroblastoma that is characterized by astroblastoma-like morphology with mn1 rearrangements involving the meningioma 1 (mn1) gene on chromosome 22q." + }, + { + "input": "central nervous system neuroblastoma", + "output": "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent schwannian stroma formation and that arising from the cerebral hemispheres." + }, + { + "input": "cns neuroblastoma with foxr2 activation", + "output": "A central nervous system neuroblastoma that is characterized by foxr2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo." + }, + { + "input": "cockayne syndrome a", + "output": "A cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11." + }, + { + "input": "cockayne syndrome b", + "output": "A cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11." + }, + { + "input": "castration-resistant prostate carcinoma", + "output": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production." + }, + { + "input": "cerebrooculofacioskeletal syndrome", + "output": "A cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis." + }, + { + "input": "cerebrooculofacioskeletal syndrome 1", + "output": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ercc6 gene on chromosome 10q11." + }, + { + "input": "cerebrooculofacioskeletal syndrome 2", + "output": "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the dna repair gene xpd (ercc2) on chromosome 19q13." + }, + { + "input": "cerebrooculofacioskeletal syndrome 3", + "output": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ercc5 gene on chromosome 13q33." + }, + { + "input": "cerebrooculofacioskeletal syndrome 4", + "output": "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ercc1 gene on chromosome 19q13." + }, + { + "input": "histiocytic sarcoma", + "output": "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes." + }, + { + "input": "erythroleukemia", + "output": "An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow." + }, + { + "input": "sporatic amyotrophic lateral sclerosis", + "output": "An amyotrophic lateral sclerosis that is characterized by random occurance of als without any known cause or familial member with als." + }, + { + "input": "polymicrogyria", + "output": "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri)." + }, + { + "input": "unilateral focal polymicrogyria", + "output": "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement." + }, + { + "input": "bilateral generalized polymicrogyria", + "output": "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain." + }, + { + "input": "bilateral frontal polymicrogyria", + "output": "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the sylvius fissure or the area located behind the rolando sulcus. symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability." + }, + { + "input": "bilateral frontoparietal polymicrogyria", + "output": "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the adgrg1 gene on chromosome 16q21." + }, + { + "input": "bilateral parasagittal parieto-occipital polymicrogyria", + "output": "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the fig4 gene on chromosome 6q21." + }, + { + "input": "bilateral perisylvian polymicrogyria", + "output": "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the adgrg1 gene on chromosome 16q21." + }, + { + "input": "cytochrome p450 oxidoreductase deficiency", + "output": "A steroid inherited metabolic disorder that is characterized by combined deficiency of p450c17 and p450c21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the por gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2." + }, + { + "input": "7q11.23 duplication syndrome", + "output": "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7." + }, + { + "input": "apolipoprotein a-iv associated amyloidosis", + "output": "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease." + }, + { + "input": "dialysis-related amyloidosis", + "output": "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of \u03b22 microglobulins (\u03b22m), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy." + }, + { + "input": "variant abeta2m amyloidosis", + "output": "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, sj\u00f6gren syndrome and autonomic neuropathy." + }, + { + "input": "primary localized cutaneous amyloidosis 1", + "output": "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin m receptor-beta (osmr) on chromosome 5p13." + }, + { + "input": "primary localized cutaneous amyloidosis 2", + "output": "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the il31ra gene on chromosome 5q11." + }, + { + "input": "primary localized cutaneous amyloidosis 3", + "output": "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the gpnmb gene on chromosome 7p15. onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions." + }, + { + "input": "immunoglobulin light chain amyloidosis", + "output": "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells." + }, + { + "input": "immunoglobulin heavy chain amyloidosis", + "output": "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm." + }, + { + "input": "immunoglobulin heavy-and-light chain", + "output": "An amyloidosis that is characterized by both ig heavy chains and lc contribute to the amyloid fibrils." + }, + { + "input": "serum amyloid a amyloidosis", + "output": "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid a protein when inflammation is present in the body." + }, + { + "input": "wild-type amyloidosis", + "output": "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein." + }, + { + "input": "nonobstructive coronary artery disease", + "output": "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent." + }, + { + "input": "hereditary angioedema type i", + "output": "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the c1 inhibitor gene (c1nh, serping1) on chromosome 11q." + }, + { + "input": "hereditary angioedema type iii", + "output": "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor xii (f12) on chromosome 5q35." + }, + { + "input": "acquired angioedema", + "output": "An angioedema that is characterized by an acquired deficiency of (c1-inh) caused by either consumption or inactivation." + }, + { + "input": "anauxetic dysplasia", + "output": "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation." + }, + { + "input": "46,xx sex reversal 5", + "output": "A 46,xx sex reversal that is characterized by genital virilization in 46,xx individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the nr2f2 gene on chromosome 15q26." + }, + { + "input": "familial behcet-like autoinflammatory syndrome", + "output": "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the tnfaip3 gene on chromosome 6q23." + }, + { + "input": "abdominal obesity-metabolic syndrome 4", + "output": "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the cela2a gene on chromosome 1p36." + }, + { + "input": "retinal dystrophy with leukodystrophy", + "output": "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (vlcfa) metabolism and that has_material_basis_in homozygous mutation in the acbd5 gene on chromosome 10p12." + }, + { + "input": "acute flaccid myelitis", + "output": "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs." + }, + { + "input": "agenesis of corpus callosum, cardiac, ocular, and genital syndrome", + "output": "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the cdh2 gene on chromosome 18q12." + }, + { + "input": "alcoholic ketoacidosis", + "output": "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. ketones are a type of acid that form when the body breaks down fat for energy." + }, + { + "input": "alopecia-mental retardation syndrome 4", + "output": "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the lss gene on chromosome 21q22." + }, + { + "input": "alopecia-mental retardation syndrome 3", + "output": "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2\u2013q12.2." + }, + { + "input": "amed syndrome", + "output": "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the adh5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the aldh2 gene (e504k) on chromosome 12q24. defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance." + }, + { + "input": "amelogenesis imperfecta type 1j", + "output": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the acpt on chromosome 19q13." + }, + { + "input": "arthrogryposis multiplex congenita", + "output": "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth." + }, + { + "input": "childhood supratentorial embryonal tumor with multilayered rosettes, c19mc-altered", + "output": "A childhood embryonal tumor with multilayered rosettes, c19mc-altered that arises from the supratentorial brain and occurs in children." + }, + { + "input": "primary hypoalphalipoproteinemia 1", + "output": "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the abc1 gene on chromosome 9q31, which is also the site of mutations causing tangier disease." + }, + { + "input": "primary hypoalphalipoproteinemia 2", + "output": "A hypolipoproteinemia that is characterized by dysfunctional apoa-i production, resulting in undetectable levels of apoa-i in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the apoa1 gene on chromosome 11q23." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 14", + "output": "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the cdh2 gene on chromosome 18q12." + }, + { + "input": "amelogenesis imperfecta type 2a6", + "output": "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the g protein-coupled receptor-68 (gpr68) on chromosome 14q32." + }, + { + "input": "anauxetic dysplasia 2", + "output": "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the pop1 gene on chromosome 8q22." + }, + { + "input": "anauxetic dysplasia 3", + "output": "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the nepro gene on chromosome 3q13." + }, + { + "input": "intracranial berry aneurysm 1", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2." + }, + { + "input": "intracranial berry aneurysm 2", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13." + }, + { + "input": "intracranial berry aneurysm 3", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36." + }, + { + "input": "intracranial berry aneurysm 4", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3." + }, + { + "input": "intracranial berry aneurysm 5", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome xp22." + }, + { + "input": "intracranial berry aneurysm 6", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21." + }, + { + "input": "intracranial berry aneurysm 7", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25." + }, + { + "input": "intracranial berry aneurysm 8", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23." + }, + { + "input": "intracranial berry aneurysm 9", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1." + }, + { + "input": "intracranial berry aneurysm 10", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1." + }, + { + "input": "intracranial berry aneurysm 11", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22." + }, + { + "input": "intracranial berry aneurysm 12", + "output": "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the thsd1 gene on chromosome 13q14." + }, + { + "input": "acute myeloid leukemia with bcr-abl1", + "output": "An acute myeloid leukemia that is characterized by blasts that harbor bcr-abl1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia." + }, + { + "input": "aortic valve disease 3", + "output": "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the robo4 gene on chromosome 11q24." + }, + { + "input": "arthrogryposis multiplex congenita-1", + "output": "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the lgi4 gene on chromosome 19q13." + }, + { + "input": "arthrogryposis multiplex congenita-3", + "output": "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the syne1 gene on chromosome 6q25." + }, + { + "input": "arthrogryposis multiplex congenita-4", + "output": "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the scyl2 gene on chromosome 12q23." + }, + { + "input": "arthrogryposis multiplex congenita-5", + "output": "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the tor1a gene on chromosome 9q34." + }, + { + "input": "x-linked mental retardation-hypotonic facies syndrome-1", + "output": "A syndromic x-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed x-inactivation pattern in carrier women and that has_material_basis_in mutation in the atrx gene. x-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. these include carpenter-waziri, holmes-gang, and smith-fineman-myers syndromes. x-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and hb h inclusion bodies in erythrocytes." + }, + { + "input": "x-linked intellectual developmental disorder 109", + "output": "A syndromic x-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the fmr2 gene (aff2), either by expansion of a ccg repeat in the 5-prime untranslated region or by deletion." + }, + { + "input": "syndromic x-linked intellectual disorder lujan-fryns-type", + "output": "A syndromic x-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the med12 gene on chromosome xq13. opitz-kaveggia syndrome is an allelic disorder with an overlapping phenotype." + }, + { + "input": "ehlers-danlos syndrome periodontal type 1", + "output": "An ehlers-danlos syndrome that is characterized by an ehlers-danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the c1r gene on chromosome 12p13." + }, + { + "input": "ehlers-danlos syndrome periodontal type 2", + "output": "An ehlers-danlos syndrome that has_material_basis_in heterozygous mutation in the c1s gene on chromosome 12p13." + }, + { + "input": "pretibial dystrophic epidermolysis bullosa", + "output": "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type vii collagen gene (col7a1) on chromosome 3p21. the lesions often show lichenoid features. pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa." + }, + { + "input": "king denborough syndrome", + "output": "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. pathogenic variants in ryr1 have been found in some individuals with king-denborough syndrome." + }, + { + "input": "congenital myopathy 1b", + "output": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the ryr1 gene on chromosome 19q13. multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form." + }, + { + "input": "rhabdomyolysis-myalgia syndrome", + "output": "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). associated with ryr1 variations. rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma." + }, + { + "input": "autoimmune epilepsy", + "output": "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction." + }, + { + "input": "tuberculous encephalopathy", + "output": "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (adem) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state." + }, + { + "input": "diffuse large b-cell lymphoma activated b-cell type", + "output": "A diffuse large b-cell lymphoma that is characterized by the expression of cd44, pkcbeta1, cyclin d2, bcl-2, and irf4/mum1 genes." + }, + { + "input": "diffuse large b-cell lymphoma germinal center b-cell type", + "output": "A diffuse large b-cell lymphoma that is characterized by the expression of cd10, bcl-6, a-myb, and lmo2 genes, bcl-2 translocation, and c-rel amplification." + }, + { + "input": "acute necrotizing pancreatitis", + "output": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems." + }, + { + "input": "acute hemorrhagic pancreatitis", + "output": "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage." + }, + { + "input": "cowden syndrome 4", + "output": "A cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the klln gene on chromosome 10q23." + }, + { + "input": "cowden syndrome 5", + "output": "A cowden syndrome that has_material_basis_in heterozygous mutation in the pik3ca gene on chromosome 3q26." + }, + { + "input": "cowden syndrome 6", + "output": "A cowden syndrome that has_material_basis_in heterozygous mutation in the akt1 gene on chromosome 14q32.3." + }, + { + "input": "cowden syndrome 7", + "output": "A cowden syndrome that has_material_basis_in heterozygous mutation in the sec23b gene on chromosome 20p11." + }, + { + "input": "high-grade b-cell lymphoma double-hit/triple-hit", + "output": "A b-cell lymphoma that is characterized by the abnormal rearrangement of two genes, myc gene and either bcl2 or bcl6 genes." + }, + { + "input": "parsley allergy", + "output": "A vegetable allergy triggered by parsley (petroselinum)." + }, + { + "input": "dill allergy", + "output": "A food allergy triggered by dill (anethum graveolens)." + }, + { + "input": "rnaset2-deficient cystic leukoencephalopathy", + "output": "A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment." + }, + { + "input": "intellectual developmental disorder with cardiac arrhythmia", + "output": "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the gnb5 gene on chromosome 15q21." + }, + { + "input": "bardet-biedl syndrome 20", + "output": "A bardet-biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the ift172 gene on chromosome 2p23." + }, + { + "input": "bardet-biedl syndrome 21", + "output": "A bardet-biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the c8orf37 gene on chromosome 8q22." + }, + { + "input": "bardet-biedl syndrome 22", + "output": "A bardet-biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the ift74 gene on chromosome 9p21." + }, + { + "input": "critical covid-19", + "output": "A covid-19 that is characterized by the criteria for acute respiratory distress syndrome (ards), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy." + }, + { + "input": "severe covid-19", + "output": "A covid-19 that is characterized by any of (1) oxygen saturation < 90% on room air, (2) respiratory rate > 30 breaths/min in adults and children > 5 years old, \u2265 60 breaths/min in children < 2 months old, \u2265 50 in children 2\u201311 months old, and \u2265 40 in children 1\u20135 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs." + }, + { + "input": "non-severe covid-19", + "output": "A covid-19 that is characterized by the absence of any criteria for severe or critical covid-19." + }, + { + "input": "congenital fibrosis of the extraocular muscles 1", + "output": "A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the kif21a gene on chromosome 12q12." + }, + { + "input": "congenital fibrosis of the extraocular muscles 2", + "output": "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the arix gene on chromosome 11q13." + }, + { + "input": "congenital fibrosis of the extraocular muscles 3a", + "output": "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the tubb3 gene on chromosome 16q24." + }, + { + "input": "congenital fibrosis of the extraocular muscles 3c", + "output": "A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11)." + }, + { + "input": "congenital fibrosis of the extraocular muscles 5", + "output": "A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the col25a1 gene on chromosome 4q25." + }, + { + "input": "tukel syndrome", + "output": "A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left." + }, + { + "input": "retinal cone dystrophy 3b", + "output": "A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the kcnv2 gene on chromosome 9p24." + }, + { + "input": "retinal cone dystrophy 4", + "output": "A cone dystrophy that has_material_basis_in homozygous mutation in the cacna2d4 gene on chromosome 12p13." + }, + { + "input": "retinal cone dystrophy 1", + "output": "A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration." + }, + { + "input": "retinal cone dystrophy 3a", + "output": "A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cgmp-phosphodiesterase (pde6h0) on chromosome 12p13." + }, + { + "input": "benign peritoneal solitary fibrous tumor", + "output": "A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels." + }, + { + "input": "glycogen-rich carcinoma", + "output": "A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen." + }, + { + "input": "central conducting lymphatic anomaly", + "output": "A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the ephb4 gene on chromosome 7q22." + }, + { + "input": "generalized lymphatic anomaly", + "output": "A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations." + }, + { + "input": "glutatione synthetase deficiency with 5-oxoprolinuria", + "output": "A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (gss) on chromosome 20q11. the metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline." + }, + { + "input": "mixed phenotype acute leukemia with bcr-abl1", + "output": "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the bcr-abl1 translocation by fish or pcr." + }, + { + "input": "mixed phenotype acute leukemia with mll rearranged", + "output": "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the mll (kmt2a) gene at 11q23.3 and another gene partner." + }, + { + "input": "mixed phenotype acute leukemia, b/myeloid", + "output": "An acute biphenotypic leukemia that is characterized by blasts which express b-lymphoid and myeloid lineage markers but are negative for mll translocation and t(9;22)(q34;q11.2) translocation." + }, + { + "input": "mixed phenotype acute leukemia, t/myeloid", + "output": "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both t and myeloid antigens." + }, + { + "input": "b-cell prolymphocytic leukemia", + "output": "A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood." + }, + { + "input": "t-cell prolymphocytic leukemia", + "output": "A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature t-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin." + }, + { + "input": "fetal akinesia deformation sequence syndrome x-linked", + "output": "A fetal akinesia deformation sequence syndrom that is an x-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures." + }, + { + "input": "frontonasal dysplasia", + "output": "A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak." + }, + { + "input": "frontonasal dysplasia 1", + "output": "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (alx3) on chromosome 1p13." + }, + { + "input": "frontonasal dysplasia 2", + "output": "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the alx4 gene on chromosome 11p11." + }, + { + "input": "frontonasal dysplasia 3", + "output": "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the alx1 gene on chromosome 12q21." + }, + { + "input": "congenital limbs-face contractures-hypotonia-developmental delay syndrome", + "output": "A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the nalcn gene on chromosome 13q33." + }, + { + "input": "hepatosplenic t-cell lymphoma", + "output": "A mature t-cell and nk-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic t-cells, usually of gamma/delta t-cell type." + }, + { + "input": "primary cutaneous gamma-delta t-cell lymphoma", + "output": "A primary cutaneous t-cell non-hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta t cells with a cytotoxic phenotype." + }, + { + "input": "microcephaly, growth deficiency, seizures, and brain malformations", + "output": "A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the wdr4 gene on chromosome 21q22." + }, + { + "input": "neurobehavioral disorder with prenatal alcohol exposure", + "output": "A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction." + }, + { + "input": "central diabetes insipidus", + "output": "A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis." + }, + { + "input": "gestational diabetes insipidus", + "output": "A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy." + }, + { + "input": "dipsogenic diabetes insipidus", + "output": "A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability." + }, + { + "input": "x-linked central diabetes insipidus", + "output": "A central diabetes insipidus that has_material_basis_in x-linked inheritance." + }, + { + "input": "x-linked nephrogenic diabetes insipidus", + "output": "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin v2 receptor (avpr2) on chromosome xq28." + }, + { + "input": "nephrogenic diabetes insipidus type 2", + "output": "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (aqp2), which maps to chromosome 12q13." + }, + { + "input": "dicer1 syndrome", + "output": "A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian sertoli-leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the dicer1 gene on chromosome 14q32. mutations of the gene encoding the endoribonuclease, dicer, disrupts the biogenesis and processing of mirnas with subsequent disruption in control of gene expression." + }, + { + "input": "bn2 diffuse large b-cell lymphoma", + "output": "A diffuse large b-cell lymphoma that is categorized as bn2 with high probability by the lymphgen algorithm. this is based on a combination of genetic features and bn2 dlbcls often, but do not always, have a translocation involving the bcl6 locus and/or some combination of mutations affecting notch2, tnfaip3, bcl10 and ube2a. this subgroup also commonly has mutations due to aberrant somatic hypermutation affecting cd70, which can be coding or non-coding." + }, + { + "input": "ezb diffuse large b-cell lymphoma", + "output": "A diffuse large b-cell lymphoma that is categorized as ezb with high probability by the lymphgen algorithm. this is based on a combination of genetic features and ezb dlbcls often, but do not always, have hot spot mutations in ezh2 and/or a bcl2 translocation. this class can be further subdivided into two sub-classes ezb-myc+ and ezb-myc- using the double hit gene expression signature (dhitsig). this subgroup also commonly has mutations due to aberrant somatic hypermutation affecting irf8, which can be coding or non-coding." + }, + { + "input": "mcd diffuse large b-cell lymphoma", + "output": "A diffuse large b-cell lymphoma that is categorized as mcd with high probability by the lymphgen algorithm. this is based on a combination of genetic features and mcd dlbcls often, but do not always, have the most common hot spot mutation in myd88 (l265p) and/or activating mutations in cd79b. this subgroup also commonly has mutations due to aberrant somatic hypermutation affecting pim1 and/or etv6, which can be coding or non-coding." + }, + { + "input": "n1 diffuse large b-cell lymphoma", + "output": "A diffuse large b-cell lymphoma that is categorized as n1 with high probability by the lymphgen algorithm. this is based on a combination of genetic features. although n1 dlbcls always have an activating mutation affecting notch1, lymphgen can assign cases with this mutation to other classes, depending on the presence of other genetic features." + }, + { + "input": "st2 diffuse large b-cell lymphoma", + "output": "A diffuse large b-cell lymphoma that is categorized as st2 with high probability by the lymphgen algorithm. this is based on a combination of genetic features and st2 dlbcls often, but do not always, have missense or nonsense mutations affecting tet2 and nfkbia. this subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of sgk1, zfp36l1, socs1, hist1h1e and cd83, which can be coding or non-coding." + }, + { + "input": "a53 diffuse large b-cell lymphoma", + "output": "A diffuse large b-cell lymphoma that is characterized by aneuploidy with tp53 inactivation." + }, + { + "input": "ezb-myc+ diffuse large b-cell lymphoma", + "output": "An ezb diffuse large b-cell lymphoma that expresses the double hit gene expression signature (dhitsig+) according to gene expression profiling. in addition to the features characteristic of ezb, these cases commonly, but do not always, harbour myc translocations and ddx3x mutations." + }, + { + "input": "ezb-myc- diffuse large b-cell lymphoma", + "output": "An ezb diffuse large b-cell lymphoma that does not express the double hit gene expression signature (dhitsig-) according to gene expression profiling. these cases tend to have few myc translocations or ddx3x mutations." + }, + { + "input": "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome", + "output": "A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills." + }, + { + "input": "teebi hypertelorism syndrome", + "output": "A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features." + }, + { + "input": "teebi hypertelorism syndrome 2", + "output": "A teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the cdh11 gene on chromosome 16q21." + }, + { + "input": "marsili syndrome", + "output": "A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the zfhx2 gene on chromosome 14q11." + }, + { + "input": "blastic plasmacytoid dendritic cell neoplasm", + "output": "An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. skin lesions appearing on the arms, legs, face and neck are the most common bpdcn symptom. other symptoms include low counts of healthy blood cells and swollen lymph nodes." + }, + { + "input": "ectodermal dysplasia and immune deficiency", + "output": "An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency." + }, + { + "input": "ectodermal dysplasia and immunodeficiency 1", + "output": "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the ikk-gamma gene (ikbkg) on chromosome xq28." + }, + { + "input": "ectodermal dysplasia and immunodeficiency 2", + "output": "An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the nfkbia gene on chromosome 14q13." + }, + { + "input": "acute myeloid leukemia with t(6;9) (p23;q34.1)", + "output": "An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in dek-nup214(can) fusion protein expression. it is often associated with multilineage dysplasia and basophilia." + }, + { + "input": "acute promyelocytic leukemia with pml-rara", + "output": "An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a pml-rara fusion gene, and where abnormal promyelocytes predominate." + }, + { + "input": "acute myelomonocytic leukemia", + "output": "An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors." + }, + { + "input": "acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)", + "output": "An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of rpn1-evi1 fusion protein and the reposition of a distal gata2 enhancer to activate mecom expression." + }, + { + "input": "acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)", + "output": "An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein cbfb-myh11." + }, + { + "input": "acute myeloid leukemia with minimal differentiation", + "output": "An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry." + }, + { + "input": "acute myeloid leukemia without maturation", + "output": "An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage." + }, + { + "input": "acute myeloid leukemia with maturation", + "output": "An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage." + }, + { + "input": "chronic myelogenous leukemia, bcr-abl1 positive", + "output": "A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the bcr-abl1 fusion gene." + }, + { + "input": "acute myeloid leukemia with mutated npm1", + "output": "An acute myeloid leukemia with mutation of the nucleophosmin gene. it is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features." + }, + { + "input": "acute myeloid leukemia with biallelic mutation of cebpa", + "output": "An acute myeloid leukemia with double mutations of the cebpa gene." + }, + { + "input": "acute myeloid leukemia with mutated runx1", + "output": "An acute myeloid leukemia that is characterized by de novo runx1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities." + }, + { + "input": "acute myeloid leukemia with myelodysplasia-related changes", + "output": "An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities." + }, + { + "input": "acute myeloid leukemia with t(8;21); (q22; q22.1)", + "output": "An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in runx1-runx1t1 fusion protein expression. the bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules." + }, + { + "input": "acute myeloid leukemia with mll rearrangement", + "output": "An acute myeloid leukemia characterized by rearrangement of the mll (mixed-lineage leukemia) gene." + }, + { + "input": "acute myeloid leukemia with mutated cebpa", + "output": "An acute myeloid leukemia with non-germline mutations of the cebpa gene." + }, + { + "input": "acute myeloid leukemia with t(1;22)(p13;q13)", + "output": "An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of rbm15-mkl1 fusion protein." + }, + { + "input": "rafiq syndrome", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the man1b1 gene on chromosome 9q34." + }, + { + "input": "autosomal recessive intellectual developmental disorder 13", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the trappc9 gene on chromosome 8q24." + }, + { + "input": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the adat3 gene on chromosome 19p13." + }, + { + "input": "spastic paraplegia with deafness", + "output": "A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life." + }, + { + "input": "nonautoimmune hyperthyroidism", + "output": "A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (tshr) on chromosome 14q31." + }, + { + "input": "familial gestational hyperthyroidism", + "output": "A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (tshr) on chromosome 14q31." + }, + { + "input": "hot water epilepsy", + "output": "A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head." + }, + { + "input": "keratosis palmoplantaris striata", + "output": "A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm." + }, + { + "input": "hot water epilepsy 1", + "output": "A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (hwe1) mapped to chromosome 10q21.3-q22.3." + }, + { + "input": "hot water epilepsy 2", + "output": "A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28." + }, + { + "input": "keratosis palmoplantaris striata 1", + "output": "A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the dsg1 gene on chromosome 18q12." + }, + { + "input": "keratosis palmoplantaris striata 2", + "output": "A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the dsp gene on chromosome 6p24." + }, + { + "input": "keratosis palmoplantaris striata 3", + "output": "A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (krt1) on chromosome 12q13." + }, + { + "input": "osteosclerotic metaphyseal dysplasia", + "output": "A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the lrrk1 gene on chromosome 15q26." + }, + { + "input": "baraitser-winter syndrome 1", + "output": "A baraitser-winter syndrome that has_material_basis_in heterozygous mutation in the actb gene on chromosome 7p22. a subset of patients have a larger deletion of chromosome 7p22 including the actb gene and additional variable genes, consistent with a contiguous gene deletion syndrome." + }, + { + "input": "baraitser-winter syndrome 2", + "output": "A baraitser-winter syndrome that has_material_basis_in heterozygous mutation in the actg1 gene on chromosome 17q25." + }, + { + "input": "benign familial infantile seizures 1", + "output": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the bfis1 locus mapped to chromosome 19q." + }, + { + "input": "benign familial infantile seizures 2", + "output": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the prrt2 gene on chromosome 16p11." + }, + { + "input": "benign familial infantile seizures 3", + "output": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the scn2a gene on chromosome 2q24." + }, + { + "input": "benign familial infantile seizures 4", + "output": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1." + }, + { + "input": "benign familial infantile seizures 5", + "output": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the scn8a gene on chromosome 12q13." + }, + { + "input": "benign familial infantile seizures 6", + "output": "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the chrna2 gene on chromosome 8p21." + }, + { + "input": "graves ophthalmopathy", + "output": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes." + }, + { + "input": "inclusion body myopathy and brain white matter abnormalities", + "output": "An inclusion body myopathy with paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the anxa11 gene on chromosome 10q22." + }, + { + "input": "catel manzke syndrome", + "output": "A bone disease that is characterized by the pierre robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the tgds gene on chromosome 13q32." + }, + { + "input": "x-linked mental retardation gustavson type", + "output": "A syndromic x-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death." + }, + { + "input": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1", + "output": "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the tmco1 gene on chromosome 1q24." + }, + { + "input": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2", + "output": "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the rab5if gene on chromosome 20q11." + }, + { + "input": "desanto-shinawi syndrome", + "output": "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the wac gene on chromosome 10p11 or deletion at chromosome 10p12-p11." + }, + { + "input": "mandibuloacral dysplasia", + "output": "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." + }, + { + "input": "mandibuloacral dysplasia type a lipodystrophy", + "output": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin a/c (lmna) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. the lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk." + }, + { + "input": "mandibuloacral dysplasia type b lipodystrophy", + "output": "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the zmpste24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. the lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities." + }, + { + "input": "bh4-deficient hyperphenylalaninemia c", + "output": "A tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the qdpr gene, which encodes an enzyme involved in the salvage pathway for bh4, on chromosome 4p15." + }, + { + "input": "bh4-deficient hyperphenylalaninemia d", + "output": "A tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the pcbd gene, which encodes an enzyme involved in the salvage pathway for bh4, on chromosome 10q22." + }, + { + "input": "tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia", + "output": "An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of bh4." + }, + { + "input": "3-methylglutaconic aciduria type 7a", + "output": "A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-mga) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the clpb gene on chromosome 11q13." + }, + { + "input": "3-methylglutaconic aciduria type 7b", + "output": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the clpb gene on chromosome 11q13." + }, + { + "input": "agammaglobulinemia 2", + "output": "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (igll1) on chromosome 22q11." + }, + { + "input": "agammaglobulinemia 1", + "output": "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (ighm) on chromosome 14q32." + }, + { + "input": "agammaglobulinemia 3", + "output": "An agammaglobulinemia that has_material_basis_in homozygous mutation in the cd79a gene on chromosome 19q13.2." + }, + { + "input": "agammaglobulinemia 6", + "output": "An agammaglobulinemia that has_material_basis_in homozygous mutation in the cd79b gene on chromosome 17q23." + }, + { + "input": "agammaglobulinemia 7", + "output": "An agammaglobulinemia that has_material_basis_in homozygous mutation in the pik3r1 gene on chromosome 5q13." + }, + { + "input": "agammaglobulinemia 8a", + "output": "An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the tcf3 gene on chromosome 19p13." + }, + { + "input": "agammaglobulinemia 9", + "output": "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating b cells and that has_material_basis_in homozygous or compound heterozygous mutation in the slc39a7 gene on chromosome 6p21." + }, + { + "input": "agammaglobulinemia 10", + "output": "An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the spi1 gene on chromosome 11p11." + }, + { + "input": "agammaglobulinemia 8b", + "output": "An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the tcf3 gene on chromosome 19p13." + }, + { + "input": "common variable immunodeficiency 1", + "output": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the icos gene on chromosome 2q33." + }, + { + "input": "common variable immunodeficiency 2", + "output": "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the tnfrsf13b gene, which encodes the transmembrane activator and caml interactor (taci), on chromosome 17p11.2." + }, + { + "input": "common variable immunodeficiency 3", + "output": "A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the cd19 gene on chromosome 16p11.2." + }, + { + "input": "common variable immunodeficiency 4", + "output": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the baffr gene (tnfrsf13c), which encodes the b-cell activating factor receptor, on chromosome 22q13." + }, + { + "input": "common variable immunodeficiency 5", + "output": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the cd20 gene (ms4a1) on chromosome 11q13." + }, + { + "input": "common variable immunodeficiency 6", + "output": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the cd81 gene on chromosome 11p." + }, + { + "input": "common variable immunodeficiency 7", + "output": "A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the cd21 gene (cr2) on chromosome 1q32." + }, + { + "input": "common variable immunodeficiency 8", + "output": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the lrba gene on chromosome 4q31." + }, + { + "input": "common variable immunodeficiency 10", + "output": "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the nfkb2 gene on chromosome 10q24." + }, + { + "input": "common variable immunodeficiency 11", + "output": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the il21 gene on chromosome 4q27." + }, + { + "input": "common variable immunodeficiency 12", + "output": "A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the nfkb1 gene on chromosome 4q24." + }, + { + "input": "common variable immunodeficiency 13", + "output": "A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of b cells and that has_material_basis_in heterozygous mutation in the ikzf1 gene on chromosome 7p12." + }, + { + "input": "common variable immunodeficiency 14", + "output": "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the irf2bp2 gene on chromosome 1q42." + }, + { + "input": "dilated cardiomyopathy 1ll", + "output": "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the prdm16 gene on chromosome 1p36." + }, + { + "input": "dilated cardiomyopathy 1mm", + "output": "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the mybpc3 gene on chromosome 11p11." + }, + { + "input": "dilated cardiomyopathy 2c", + "output": "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the ppcs gene on chromosome 1p34." + }, + { + "input": "dilated cardiomyopathy 2d", + "output": "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the rpl3l gene on chromosome 16p13." + }, + { + "input": "dilated cardiomyopathy 2e", + "output": "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the jph2 gene on chromosome 20q13." + }, + { + "input": "dilated cardiomyopathy 2f", + "output": "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the bag5 gene on chromosome 14q32." + }, + { + "input": "dilated cardiomyopathy 2g", + "output": "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the lmod2 gene on chromosome 7q31." + }, + { + "input": "dilated cardiomyopathy 3b", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (dmd) on chromosome xp21." + }, + { + "input": "hmg-coa synthase 2 deficiency", + "output": "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the hmgcs2 gene on chromosome 1p12." + }, + { + "input": "leber congenital amaurosis 19", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the usp45 gene on chromosome 6q16." + }, + { + "input": "short stature, hearing loss, retinitis pigmentosa, and distinctive facies", + "output": "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the exosc2 gene on chromosome 9q34." + }, + { + "input": "hypotonia, ataxia, and delayed development syndrome", + "output": "A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the ebf3 gene on chromosome 10q26." + }, + { + "input": "autosomal recessive intellectual developmental disorder 1", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (prss12) on chromosome 4q25." + }, + { + "input": "autosomal recessive intellectual developmental disorder 2", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (crbn) on chromosome 3p26." + }, + { + "input": "autosomal recessive intellectual developmental disorder 3", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the cc2d1a gene on chromosome 19p13." + }, + { + "input": "autosomal recessive intellectual developmental disorder 12", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the st3gal3 gene on chromosome 1p34." + }, + { + "input": "autosomal recessive intellectual developmental disorder 5", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the nsun2 gene on chromosome 5p15." + }, + { + "input": "autosomal recessive intellectual developmental disorder 6", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (grik2) on chromosome 6q16." + }, + { + "input": "autosomal recessive intellectual developmental disorder 7", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the tusc3 gene on chromosome 8p22." + }, + { + "input": "autosomal recessive intellectual developmental disorder 9/26", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-mb region on proximal chromosome 14q between snps rs10132585 and rs1278951, termed the mrt9 locus." + }, + { + "input": "autosomal recessive intellectual developmental disorder 10/20", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-mb region in the pericentromeric region of chromosome 16 between snps rs7197568 and rs7197227, termed the mrt20 locus." + }, + { + "input": "autosomal recessive intellectual developmental disorder 11", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed mrt11. haplotype analysis delineated a 5.4-mb candidate region between snps rs2109075 and rs8101149." + }, + { + "input": "autosomal recessive intellectual developmental disorder 4", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed mrt4, on chromosome 1p21.1-p13.3." + }, + { + "input": "autosomal recessive intellectual developmental disorder 14", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the tecr gene on chromosome 19p13." + }, + { + "input": "autosomal recessive intellectual developmental disorder 16", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated mrt16." + }, + { + "input": "autosomal recessive intellectual developmental disorder 18", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the med23 gene on chromosome 6q23." + }, + { + "input": "autosomal recessive intellectual developmental disorder 31", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-mb region on proximal chromosome 4q between snps rs11944876 and rs6551838." + }, + { + "input": "autosomal recessive intellectual developmental disorder 29", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. the interval spanned 52.2 mb between snps rs1426138 and rs2055392." + }, + { + "input": "autosomal recessive intellectual developmental disorder 27", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the lins gene (lins1) on chromosome 15q26." + }, + { + "input": "autosomal recessive intellectual developmental disorder 33", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 mb between snps rs1367950 and rs1826925." + }, + { + "input": "autosomal recessive intellectual developmental disorder 30", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-mb region on proximal chromosome 6q between snps rs4612125 and rs285651." + }, + { + "input": "autosomal recessive intellectual developmental disorder 23", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-mb interval in the pericentromeric region of chromosome 11 between snps rs604518 and rs10899421." + }, + { + "input": "autosomal recessive intellectual developmental disorder 24", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in inkage to a 16.4-mb region on chromosome 6p between snps rs651733 and rs1508668." + }, + { + "input": "autosomal recessive intellectual developmental disorder 25", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-mb region on chromosome 12q between snps rs4760658 and rs1882033." + }, + { + "input": "autosomal recessive intellectual developmental disorder 28", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-mb region on chromosome 6q between snps rs6935718 and rs388609." + }, + { + "input": "autosomal recessive intellectual developmental disorder 34", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the cradd gene on chromosome 12q22." + }, + { + "input": "autosomal recessive intellectual developmental disorder 35", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-mb region on chromosome 17q21.31-q22 between snps rs4792947 and rs11079258." + }, + { + "input": "autosomal recessive intellectual developmental disorder 37", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ank3 gene on chromosome 10q21." + }, + { + "input": "autosomal recessive intellectual developmental disorder 38", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the herc2 gene on chromosome 15q13." + }, + { + "input": "autosomal recessive intellectual developmental disorder 39", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the tti2 gene on chromosome 8p12." + }, + { + "input": "autosomal recessive intellectual developmental disorder 40", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the taf2 gene on chromosome 8q24." + }, + { + "input": "autosomal recessive intellectual developmental disorder 41", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the kptn gene on chromosome 19q13." + }, + { + "input": "autosomal recessive intellectual developmental disorder 43", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the kiaa1033 gene (washc4) on chromosome 12q23. some patients may have significant motor delays." + }, + { + "input": "autosomal recessive intellectual developmental disorder 44", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the mettl23 gene on chromosome 17q25." + }, + { + "input": "autosomal recessive intellectual developmental disorder 45", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the fbxo31 gene on chromosome 16q24." + }, + { + "input": "autosomal recessive intellectual developmental disorder 46", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ndst1 gene on chromosome 5q33." + }, + { + "input": "autosomal recessive intellectual developmental disorder 47", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the fmn2 gene on chromosome 1q43." + }, + { + "input": "autosomal recessive intellectual developmental disorder 48", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the slc6a17 gene on chromosome 1p13." + }, + { + "input": "autosomal recessive intellectual developmental disorder 50", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the edc3 gene on chromosome 15q24." + }, + { + "input": "autosomal recessive intellectual developmental disorder 51", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the hnmt gene on chromosome 2q22." + }, + { + "input": "autosomal recessive intellectual developmental disorder 52", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the lman2l gene on chromosome 2q11." + }, + { + "input": "autosomal recessive intellectual developmental disorder 54", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the tnik gene on chromosome 3q26." + }, + { + "input": "autosomal recessive intellectual developmental disorder 56", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the zc3h14 gene on chromosome 14q31." + }, + { + "input": "autosomal recessive intellectual developmental disorder 74", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the apc2 gene on chromosome 19p13. epilepsy with eyelid myoclonus has also been reported." + }, + { + "input": "autosomal recessive intellectual developmental disorder 57", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the mboat7 gene on chromosome 19q13." + }, + { + "input": "autosomal recessive intellectual developmental disorder 58", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the elp2 gene on chromosome 18q12." + }, + { + "input": "autosomal recessive intellectual developmental disorder 59", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the impa1 gene on chromosome 8q21." + }, + { + "input": "autosomal recessive intellectual developmental disorder 60", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the taf13 gene on chromosome 1p13." + }, + { + "input": "glycosylphosphatidylinositol biosynthesis defect 16", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the pigc gene on chromosome 1q23." + }, + { + "input": "autosomal recessive intellectual developmental disorder 63", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the camk2a gene on chromosome 5q32." + }, + { + "input": "autosomal recessive intellectual developmental disorder 64", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the lingo1 gene on chromosome 15q24." + }, + { + "input": "autosomal recessive intellectual developmental disorder 65", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the kdm5b gene on chromosome 1q32." + }, + { + "input": "autosomal recessive intellectual developmental disorder 66", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the c12orf4 gene on chromosome 12p13." + }, + { + "input": "autosomal recessive intellectual developmental disorder 67", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the eif3f gene on chromosome 11p15." + }, + { + "input": "autosomal recessive intellectual developmental disorder 68", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the trmt1 gene on chromosome 19p13." + }, + { + "input": "autosomal recessive intellectual developmental disorder 69", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the zbtb11 gene on chromosome 3q12." + }, + { + "input": "autosomal recessive intellectual developmental disorder 70", + "output": "An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the rsrc1 gene on chromosome 3q25." + }, + { + "input": "autosomal recessive intellectual developmental disorder 71", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the alkbh8 gene on chromosome 11q22." + }, + { + "input": "autosomal recessive intellectual developmental disorder 73", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the naa20 gene on chromosome 20p11." + }, + { + "input": "autosomal recessive intellectual developmental disorder 75", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the pidd1 gene on chromosome 11p15." + }, + { + "input": "autosomal recessive intellectual developmental disorder 76", + "output": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gria1 gene on chromosome 5q33." + }, + { + "input": "autosomal recessive intellectual developmental disorder 77", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the cep104 gene on chromosome 1p36." + }, + { + "input": "acromesomelic dysplasia-3", + "output": "An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the bmpr1b gene on chromosome 4q22." + }, + { + "input": "acromesomelic dysplasia-4", + "output": "An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the prkg2 gene on chromosome 4q21." + }, + { + "input": "injection anthrax", + "output": "An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores." + }, + { + "input": "peroxisome biogenesis disorder 1b", + "output": "A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the pex1 gene on chromosome 7q21." + }, + { + "input": "peroxisome biogenesis disorder 3b", + "output": "A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the pex12 gene on chromosome 17." + }, + { + "input": "autoimmune interstitial lung, joint, and kidney disease", + "output": "A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the copa gene on chromosome 1q23." + }, + { + "input": "rhizomelic chondrodysplasia punctate type 4", + "output": "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the far1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-coas to fatty alcohols, causing reduction or complete loss of far1 activity result in peroxisomal far1 deficiency." + }, + { + "input": "pituitary blastoma", + "output": "A pituitary cancer that is characterized by features of cushing disease, with elevated blood acth levels and hypercortisolism arising within the fetal anterior pituitary and associated with dicer1 mutations." + }, + { + "input": "cauda equina neuroendocrine tumor", + "output": "A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina." + }, + { + "input": "teratoma with somatic-type malignancy", + "output": "A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course." + }, + { + "input": "dedifferentiated chondrosarcoma", + "output": "A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. it is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component." + }, + { + "input": "pineocytoma", + "output": "An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. it may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation." + }, + { + "input": "ewsr1-negative small round cell tumor", + "output": "A small cell sarcoma that is characterized by the absence of ewsr1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm." + }, + { + "input": "cic-rearranged sarcoma", + "output": "An ewseri-negative small round cell tumor that is characterized by a recurrent translocation involving the cic gene on chromosome 19 and either dux4 gene on chromosome 4 or dux4l gene on chromosome 10. the translocation results in either cic-dux4, t(4;19)(q35;q13) or cic-dux4l, t(10;19)(q26;q13) fusions." + }, + { + "input": "papillary tumor of the pineal region", + "output": "A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture." + }, + { + "input": "supratentorial ependymoma, zfta fusion\u2013positive", + "output": "A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving zfta gene." + }, + { + "input": "supratentorial ependymoma, yap1 fusion\u2013positive", + "output": "A supratentorial ependymoma that is characterized by the presence of a fusion gene involving yap1 gene." + }, + { + "input": "posterior fossa group a ependymoma", + "output": "A posterior fossa ependymoma that arises in the posterior fossa with characteristic dna methylation patterns, including cpg island hypermethylation, global dna hypomethylation, reduction of nuclear h3 p.k28me3 (k27me3) expression, and ezhip overexpression." + }, + { + "input": "posterior fossa group b ependymoma", + "output": "A posterior fossa ependymoma that arises in the posterior fossa with characteristic dna methylation patterns including retention of nuclear h3 p.k28me3 (k27me3) expression, absence of cpg island hypermethylation, absence of global dna hypomethylation, and absence of ezhip overexpression." + }, + { + "input": "astrocytoma, idh-mutant, grade 2", + "output": "An idh-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system." + }, + { + "input": "astrocytoma, idh-mutant, grade 3", + "output": "An idh-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features." + }, + { + "input": "desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma", + "output": "A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by mapk pathway activation and composed of a mixed astrocytic and neuronal component (dig) or an astrocytic component only (dia) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells." + }, + { + "input": "diffuse low-grade glioma, mapk pathway\u2013altered", + "output": "A low grade glioma that is characterized by a gene alteration that results in a mapk pathway abnormality, with morphological features of astrocytoma or oligodendroglioma." + }, + { + "input": "angiocentric glioma", + "output": "A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation." + }, + { + "input": "intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the tnpo2 gene on chromosome 19p13." + }, + { + "input": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the gemin4 gene on chromosome 17p13." + }, + { + "input": "developmental delay, hypotrophy, and dysmorphic features without moebius syndrome", + "output": "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare rev3l variant (t2753r)." + }, + { + "input": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the pus7 gene on chromosome 7q22." + }, + { + "input": "pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures", + "output": "A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the tubgcp2 gene on chromosome 10q26." + }, + { + "input": "graft-versus-host disease", + "output": "An immune system disease that is characterized by recognition by mature donor t cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (il10) on chromosome 1q32." + }, + { + "input": "pulmonary venoocclusive disease 1", + "output": "A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the bmpr2 gene on chromosome 2q33." + }, + { + "input": "pulmonary venoocclusive disease 2", + "output": "A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the eif2ak4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation." + }, + { + "input": "smith-mccort dysplasia 1", + "output": "A smith-mccort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the dym gene (607461) on chromosome 18q21." + }, + { + "input": "smith-mccort dysplasia 2", + "output": "A smith-mccort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the rab33b gene on chromosome 4q31." + }, + { + "input": "sandestig-stefanova syndrome", + "output": "A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the nup188 gene on chromosome 9q34." + }, + { + "input": "siddiqi syndrome", + "output": "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the fitm2 gene on chromosome 20q13." + }, + { + "input": "peroxisome biogenesis disorder 14b", + "output": "A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the pex11b gene on chromosome 1q21." + }, + { + "input": "neurodevelopmental disorder with eye movement abnormalities and ataxia", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the frmd5 gene on chromosome 15q15. affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties." + }, + { + "input": "cerebellar atrophy, visual impairment, and psychomotor retardation", + "output": "A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the emc1 gene on chromosome 1p36." + }, + { + "input": "diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype", + "output": "A high grade glioma that is characterized by the absence of histone h3, idh1, and idh2 mutations." + }, + { + "input": "infant-type hemispheric glioma", + "output": "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the ntrk family, ros1, alk, or met genes, that arises in the cerebral hemisphere and occurs in early childhood." + }, + { + "input": "diffuse astrocytoma, myb- or mybl1-altered", + "output": "A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in myb or mybl1." + }, + { + "input": "pituicytoma", + "output": "A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements." + }, + { + "input": "oligodendroglioma, idh-mutant and 1p/19q-codeleted grade 2", + "output": "An idh-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis)." + }, + { + "input": "oligodendroglioma, idh-mutant and 1p/19q-codeleted, grade 3", + "output": "An idh-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas." + }, + { + "input": "papillary glioneuronal tumor", + "output": "A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae." + }, + { + "input": "rosette-forming glioneuronal tumor", + "output": "A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain rosenthal fibers." + }, + { + "input": "myxoid glioneuronal tumor", + "output": "A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the pdgfr gene. it usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. it is composed of oligodendrocyte-like cells in a prominent myxoid stroma." + }, + { + "input": "embryonal tumor with multilayered rosettes", + "output": "A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the c19mc region on chromosome 19 (19q13.42) or rarely a dicer1 mutation." + }, + { + "input": "white sponge nevus 1", + "output": "A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (krt4) on chromosome 12q13." + }, + { + "input": "white sponge nevus 2", + "output": "A white sponge nevus that has_material_basis_in heterozygous mutation in the krt13 gene on chromosome 17q21." + }, + { + "input": "antley-bixler syndrome", + "output": "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period." + }, + { + "input": "antley-bixler syndrome without disordered steroidogenesis", + "output": "An antley-bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, fgfr2, on chromosome 10q26 and is an exclusively skeletal form of antley-bixler syndrome." + }, + { + "input": "chronic traumatic encephalopathy", + "output": "A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves." + }, + { + "input": "traumatic brain injury", + "output": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head." + }, + { + "input": "salivary gland mucoepidermoid carcinoma", + "output": "A mucoepidermoid carcinoma located_in the salivary gland." + }, + { + "input": "neuronal intranuclear inclusion disease", + "output": "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (cgg) in the 5-prime untranslated region of the notch2nlc gene on chromosome 1q21." + }, + { + "input": "essential tremor 6", + "output": "An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide ggc repeat expansion in the 5-prime untranslated region of the notch2nlc gene on chromosome 1q21." + }, + { + "input": "oculopharyngodistal myopathy", + "output": "A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities." + }, + { + "input": "oculopharyngodistal myopathy 1", + "output": "An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (cgg) in the 5-prime untranslated region of the lrp12 gene on chromosome 8q22." + }, + { + "input": "oculopharyngodistal myopathy 2", + "output": "An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (ggc(n)) in the 5-prime untranslated region (utr) of the gipc1 gene on chromosome 19p13." + }, + { + "input": "oculopharyngodistal myopathy 3", + "output": "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (cgg) in the 5-prime untranslated region (utr) of the notch2nlc gene on chromosome 1q21." + }, + { + "input": "oculopharyngodistal myopathy 4", + "output": "An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (cgg) in the 5-prime untranslated region (utr) of the rilpl1 gene on chromosome 12q24." + }, + { + "input": "intellectual developmental disorder with ocular anomalies and distinctive facial features", + "output": "A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the mtss2 gene on chromosome 16q22." + }, + { + "input": "diffuse leptomeningeal glioneuronal tumor", + "output": "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma." + }, + { + "input": "multinodular and vacuolating neuronal tumor", + "output": "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres." + }, + { + "input": "high-grade astrocytoma with piloid features", + "output": "An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. it may occur anywhere in the central nervous system but most often arises in the posterior fossa." + }, + { + "input": "polymorphous low grade neuroepithelial tumour of the young", + "output": "A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy." + }, + { + "input": "spindle cell oncocytoma", + "output": "A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles." + }, + { + "input": "lymphomatoid granulomatosis", + "output": "A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. the abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. the lesions or nodules damage or destroy the blood vessels within these tissues." + }, + { + "input": "grade i lymphomatoid granulomatosis", + "output": "A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. large lymphocytes are absent or rare. by in situ hybridization, ebv-positive cells are infrequently seen." + }, + { + "input": "grade ii lymphomatoid granulomatosis", + "output": "A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. necrosis is more commonly seen as compared to grade i lymphomatoid granulomatosis. by in situ hybridization, ebv-positive cells are readily seen." + }, + { + "input": "grade iii lymphomatoid granulomatosis", + "output": "A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large b-lymphocytes, usually admixed with pleomorphic and hodgkin-like cells, in a background of chronic inflammation. necrotic changes are present and are usually extensive." + }, + { + "input": "intravascular large b-cell lymphoma", + "output": "A b-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries." + }, + { + "input": "t-cell non-hodgkin lymphoma", + "output": "A non-hodgkin lymphoma of t-cell lineage." + }, + { + "input": "primary diffuse large b-cell lymphoma of the central nervous system", + "output": "A diffuse large b-cell lymphoma arising from the central nervous system." + }, + { + "input": "extraventricular neurocytoma", + "output": "A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. unlike central neurocytoma, it does not involve the lateral ventricles." + }, + { + "input": "central nervous system tumor with bcor internal tandem duplication", + "output": "A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the bcor gene." + }, + { + "input": "primary intracranial sarcoma, dicer1-mutant", + "output": "A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. it is associated with mutations in the dicer1 gene." + }, + { + "input": "multiple synostoses syndrome 1", + "output": "A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the nog gene on chromosome 17q22." + }, + { + "input": "multiple synostoses syndrome 2", + "output": "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the gdf5 gene on chromosome 20q11." + }, + { + "input": "multiple synostoses syndrome 3", + "output": "A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the fgf9 gene on chromosome 13q12." + }, + { + "input": "multiple synostoses syndrome 4", + "output": "A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the gdf6 gene on chromosome 8q22." + }, + { + "input": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a", + "output": "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the myh3 gene on chromosome 17p13." + }, + { + "input": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b", + "output": "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the myh3 gene on chromosome 17p13." + }, + { + "input": "breast implant illness", + "output": "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression." + }, + { + "input": "neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the psmc1 gene on chromosome 14q32." + }, + { + "input": "developmental and epileptic encephalopathy 94", + "output": "A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the chd2 gene on chromosome 15q26." + }, + { + "input": "oxoglutarate dehydrogenase deficiency", + "output": "An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (ogdh) on chromosome 7p13." + }, + { + "input": "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures", + "output": "A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the irf2bpl gene on chromosome 14q24." + }, + { + "input": "familial hyperinsulinemic hypoglycemia 8", + "output": "A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the slc25a36 gene on chromosome 3q23." + }, + { + "input": "glycogen storage disease i", + "output": "A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas." + }, + { + "input": "glycogen storage disease ib", + "output": "A glycogen storage disease i that has_material_basis_in homozygous or compound heterozygous mutation in the g6pt1 gene (slc37a4), which encodes glucose-6-phosphate translocase, on chromosome 11q23." + }, + { + "input": "glycogen storage disease ic", + "output": "A glycogen storage disease i that has_material_basis_in homozygous or compound heterozygous mutation in the g6pt1 gene (slc37a4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. g6pt1 is also the site of the defect in glycogen storage disease ib." + }, + { + "input": "progeroid syndrome", + "output": "A syndrome that is characterized by the premature onset of age-related pathologies." + }, + { + "input": "wiedemann-rautenstrauch syndrome", + "output": "A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the polr3a gene on chromosome 10q22." + }, + { + "input": "nestor-guillermo progeria syndrome", + "output": "A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the banf1 gene on chromosome 11q13. onset is after 2 years of age." + }, + { + "input": "becker disease", + "output": "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (clcn1) on chromosome 7q34." + }, + { + "input": "thomsen disease", + "output": "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (clcn1) on chromosome 7q34." + }, + { + "input": "congenital myopathy", + "output": "A myopathy that is characterized by hypotonia and weakness, usually present from birth." + }, + { + "input": "myofibrillar myopathy 11", + "output": "A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the unc45b gene on chromosome 17q11." + }, + { + "input": "congenital myopathy 2b", + "output": "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the acta1 gene on chromosome 1q42." + }, + { + "input": "congenital myopathy 2c", + "output": "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the acta1 gene on chromosome 1q42. heterozygous mutation in the acta1 gene can also cause autosomal dominant typical congenital myopathy-2a (cmyp2a). biallelic mutation in the acta1 gene causes autosomal recessive severe infantile congenital myopathy-2b (cmyp2b)." + }, + { + "input": "congenital myopathy 5", + "output": "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (ttn) on chromosome 2q31." + }, + { + "input": "congenital myopathy 8", + "output": "A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the actn2 gene on chromosome 1q43. heterozygous mutation in the actn2 gene can also cause distal myopathy-6 (mpd6), which shows later onset and is less severe." + }, + { + "input": "congenital myopathy 9a", + "output": "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the fxr1 gene on chromosome 3q28." + }, + { + "input": "congenital myopathy 9b", + "output": "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the fxr1 gene on chromosome 3q28. biallelic mutation in the fxr1 gene also causes cmyp9a." + }, + { + "input": "congenital myopathy 10b", + "output": "A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the megf10 gene on chromosome 5q23. biallelic mutation in the megf10 gene also causes a more severe congenital myopathy with overlapping features." + }, + { + "input": "congenital myopathy 14", + "output": "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the myl1 gene on chromosome 2q32. affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time." + }, + { + "input": "congenital myopathy 15", + "output": "A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the tnnc2 gene on chromosome 20q13. affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding." + }, + { + "input": "congenital myopathy 16", + "output": "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the mybpc1 gene on chromosome 12q23. patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs." + }, + { + "input": "congenital myopathy 17", + "output": "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the myod1 gene on chromosome 11p15." + }, + { + "input": "congenital myopathy 18", + "output": "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the cacna1s gene on chromosome 1q32." + }, + { + "input": "congenital myopathy 19", + "output": "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the pax7 gene on chromosome 1p36." + }, + { + "input": "congenital myopathy 20", + "output": "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ryr3 gene on chromosome 15q13 and that shows wide phenotypic variability. some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures." + }, + { + "input": "congenital myopathy 21", + "output": "A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the dnajb4 gene on chromosome 1p31." + }, + { + "input": "congenital myopathy 22a", + "output": "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the scn4a gene on chromosome 17q23. biallelic mutation in the scn4a gene also causes severe fetal congenital myopathy 22b." + }, + { + "input": "congenital myopathy 22b", + "output": "A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the scn4a gene on chromosome 17q23." + }, + { + "input": "spinal muscular atrophy, jokela type", + "output": "A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the chchd10 gene on chromosome 22q11." + }, + { + "input": "isolated mitochondrial myopathy", + "output": "A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the chchd10 gene on chromosome 22q11." + }, + { + "input": "epidermolytic hyperkeratosis 1", + "output": "An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (krt1) on chromosome 12q13." + }, + { + "input": "epidermolytic hyperkeratosis 2", + "output": "An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (krt10) on chromosome 17q21." + }, + { + "input": "spastic quadriplegic cerebral palsy 2", + "output": "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ankrd15 gene (kank1) inherited on the paternal allele." + }, + { + "input": "spastic quadriplegic cerebral palsy 3", + "output": "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the add3 gene on chromosome 10q24." + }, + { + "input": "pierpont syndrome", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the tbl1xr1 gene on chromosome 3q26." + }, + { + "input": "distal myopathy with rimmed vacuoles", + "output": "A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the sqstm1 gene on chromosome 5q35." + }, + { + "input": "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset", + "output": "A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the sqstm1 gene on chromosome 5q35." + }, + { + "input": "paget's disease of bone 2", + "output": "A paget's disease of bone that has_material_basis_in heterozygous mutation in the tnfrsf11a gene, which encodes rank, on chromosome 18q21." + }, + { + "input": "paget's disease of bone 3", + "output": "A paget's disease of bone that has_material_basis_in heterozygous mutation in the sqstm1 gene on chromosome 5q35." + }, + { + "input": "paget's disease of bone 4", + "output": "A paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cm, between d5s642 and d5s1972." + }, + { + "input": "paget's disease of bone 5", + "output": "A paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the tnfrsf11b gene on chromosome 8q24." + }, + { + "input": "paget's disease of bone 6", + "output": "A paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the znf687 gene on chromosome 1q21." + }, + { + "input": "ladd syndrome", + "output": "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers." + }, + { + "input": "lacrimoauriculodentodigital syndrome 2", + "output": "A ladd syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the fgfr3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments." + }, + { + "input": "lacrimoauriculodentodigital syndrome 3", + "output": "A ladd syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the fgf10 gene on chromosome 5p12." + }, + { + "input": "disabling pansclerotic morphea", + "output": "A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone." + }, + { + "input": "nemaline myopathy 5b", + "output": "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the tnnt1 gene on chromosome 19q13, with childhood onset." + }, + { + "input": "nemaline myopathy 5c", + "output": "A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the tnnt1 gene on chromosome 19q13." + }, + { + "input": "sorbitol dehydrogenase deficiency with peripheral neuropathy", + "output": "A neuromuscular disease that is characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the sord gene on chromosome 15q21." + }, + { + "input": "cox deficiency, benign infantile mitochondrial myopathy", + "output": "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles." + }, + { + "input": "amyotrophic lateral sclerosis type 24", + "output": "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the nek1 gene on chromosome 4q33." + }, + { + "input": "amyotrophic lateral sclerosis type 25", + "output": "An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the kif5a gene on chromosome 12q13. als25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively)." + }, + { + "input": "amyotrophic lateral sclerosis type 26", + "output": "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the tia1 gene on chromosome 2p13." + }, + { + "input": "juvenile amyotrophic lateral sclerosis type 27", + "output": "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the sptlc1 gene on chromosome 9q22." + }, + { + "input": "amyotrophic lateral sclerosis type 28", + "output": "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (cgg) in the 5-prime untranslated region of the lrp12 gene on chromosome 8q22." + }, + { + "input": "ataxia-oculomotor apraxia type 4", + "output": "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the pnkp gene on chromosome 19q13." + }, + { + "input": "ataxia-telangiectasia-like disorder-1", + "output": "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the mre11a gene (mre11) on chromosome 11q21." + }, + { + "input": "ataxia-telangiectasia-like disorder-2", + "output": "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the pcna gene on chromosome 20p12." + }, + { + "input": "tango2-related metabolic encephalopathy and arrythmias", + "output": "A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the tango2 gene on chromosome 22q11." + }, + { + "input": "neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities", + "output": "An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ints11 gene on chromosome 1p36." + }, + { + "input": "primary progressive aphasia", + "output": "A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. it is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language." + }, + { + "input": "logopenic progressive aphasia", + "output": "A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. it is a type of primary progressive aphasia. affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers." + }, + { + "input": "progressive non-fluent aphasia", + "output": "A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech." + }, + { + "input": "semantic dementia", + "output": "A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes." + }, + { + "input": "corticobasal degeneration syndrome", + "output": "A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities." + }, + { + "input": "organophosphate-induced delayed polyneuropathy", + "output": "An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits." + }, + { + "input": "caroli syndrome", + "output": "A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease." + }, + { + "input": "harel-yoon syndrome", + "output": "A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the atad3a gene on chromosome 1p36." + }, + { + "input": "neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome", + "output": "A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the atad3a gene on chromosome 1p36.33." + }, + { + "input": "vissers-bodmer syndrome", + "output": "A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the cnot1 gene on chromosome 16q21." + }, + { + "input": "holoprosencephaly 12", + "output": "A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the cnot1 gene on chromosome 16q21." + }, + { + "input": "fraser syndrome", + "output": "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the fras1 gene on chromosome 4q21, the frem2 gene on chromosome 13q13, or the grip1 gene on chromosome 12q14." + }, + { + "input": "tietz syndrome", + "output": "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the mitf gene on chromosome 3p13." + }, + { + "input": "agenesis of the corpus callosum with peripheral neuropathy", + "output": "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the slc12a6 gene on chromosome 15q14." + }, + { + "input": "progressive pseudorheumatoid arthropathy of childhood", + "output": "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the chst3 gene on chromosome 10q22." + }, + { + "input": "schwartz-jampel syndrome 1", + "output": "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the hspg2 gene on chromosome 1p36." + }, + { + "input": "renal coloboma syndrome", + "output": "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the pax2 gene on chromosome 10q24." + }, + { + "input": "immunodeficiency-centromeric instability-facial anomalies syndrome", + "output": "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases." + }, + { + "input": "immunodeficiency-centromeric instability-facial anomalies syndrome 1", + "output": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the dnmt3b gene on chromosome 20q11.2." + }, + { + "input": "immunodeficiency-centromeric instability-facial anomalies syndrome 2", + "output": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the zbtb24 gene on chromosome 6q21." + }, + { + "input": "immunodeficiency-centromeric instability-facial anomalies syndrome 3", + "output": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the cdca7 gene on chromosome 2q31." + }, + { + "input": "immunodeficiency-centromeric instability-facial anomalies syndrome 4", + "output": "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the hells gene on chromosome 10q23." + }, + { + "input": "severe combined immunodeficiency with sensitivity to ionizing radiation", + "output": "A severe combined immunodeficiency characterized by being t cell-negative, b cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the dclre1c gene on chromosome 10p13." + }, + { + "input": "severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive", + "output": "A severe combined immunodeficiency characterized by being t cell-negative, b cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the rag1 and rag2 genes on chromosome 11p12." + }, + { + "input": "severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive", + "output": "A severe combined immunodeficiency characterized by being t cell-negative, b cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the il7r gene on chromosome 5p13 or the cd45 gene on chromosome 1q31." + }, + { + "input": "cenani-lenz syndactyly syndrome", + "output": "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the lrp4 gene on chromosome 11p11." + }, + { + "input": "chromosome 5q deletion syndrome", + "output": "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the rps14, mir145, mir146a and/or ddx41 genes on chromosome 5q." + }, + { + "input": "epidermolysis bullosa simplex with muscular dystrophy", + "output": "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the plec gene on chromosome 8q24." + }, + { + "input": "autosomal dominant familial periodic fever", + "output": "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the tnfrsf1a gene on chromosome 12p13." + }, + { + "input": "sitosterolemia", + "output": "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the abcg8 gene or in the abcg5 gene, both of which are located on chromosome 2p21." + }, + { + "input": "split hand-foot malformation", + "output": "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting." + }, + { + "input": "split hand-foot malformation 1", + "output": "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the dss1, dlx5, and dlx6 genes and possible regulatory elements in the region." + }, + { + "input": "split hand-foot malformation 5", + "output": "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31." + }, + { + "input": "split hand-foot malformation 4", + "output": "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the tp63 gene on chromosome 3q28." + }, + { + "input": "split hand-foot malformation 1 with sensorineural hearing loss", + "output": "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the dlx5 gene on chromosome 7q21." + }, + { + "input": "split hand-foot malformation 3", + "output": "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24." + }, + { + "input": "split hand-foot malformation 6", + "output": "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the wnt10b gene on chromosome 12q13." + }, + { + "input": "split hand-foot malformation 2", + "output": "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region xq26." + }, + { + "input": "familial isolated deficiency of vitamin e", + "output": "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin e that has_material_basis_in homozygous or compound heterozygous mutation in the ttpa gene on chromosome 8q12." + }, + { + "input": "cinca syndrome", + "output": "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the nlrp3 gene on chromosome 1q." + }, + { + "input": "corticosteroid-binding globulin deficiency", + "output": "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the serpina6 gene on chromosome 14q32." + }, + { + "input": "d-bifunctional protein deficiency", + "output": "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the hsd17b4 gene on chromosome 5q2." + }, + { + "input": "silverman-handmaker type dyssegmental dysplasia", + "output": "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (hspg2) on chromosome 1p36." + }, + { + "input": "myoclonic dystonia", + "output": "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life." + }, + { + "input": "myoclonic dystonia 11", + "output": "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (sgce) on chromosome 7q21." + }, + { + "input": "myoclonic dystonia 15", + "output": "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11." + }, + { + "input": "myoclonic dystonia 26", + "output": "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kctd17 gene on chromosome 22q12." + }, + { + "input": "torsion dystonia 13", + "output": "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13." + }, + { + "input": "torsion dystonia 2", + "output": "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (hpca) gene on chromosome 1p35." + }, + { + "input": "torsion dystonia 6", + "output": "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the thap domain containing 1 gene (thap1) on chromosome 8p11." + }, + { + "input": "torsion dystonia 7", + "output": "A focal dystonia that is characterized by predomiantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p." + }, + { + "input": "torsion dystonia 4", + "output": "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4a class iva (tubb4a) gene on chromosome 19p13." + }, + { + "input": "torsion dystonia 17", + "output": "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12." + }, + { + "input": "dystonia 5", + "output": "A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (l-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding gtp cyclohydrolase 1 (gch1) on chromosome 14q13." + }, + { + "input": "dystonia 9", + "output": "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (slc2a1) gene on chromosome 1p34." + }, + { + "input": "childhood onset glut1 deficiency syndrome 2", + "output": "A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (slc2a1) gene on chromosome 1p34." + }, + { + "input": "dystonia 21", + "output": "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3." + }, + { + "input": "paroxysmal nonkinesigenic dyskinesia 2", + "output": "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31." + }, + { + "input": "dystonia 16", + "output": "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase eif2ak2 (prkra) gene on chromosome 2q31." + }, + { + "input": "paroxysmal nonkinesigenic dyskinesia 1", + "output": "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the pnkd metallo-beta-lactamase domain containing gene on chromosome 2q35." + }, + { + "input": "dystonia 27", + "output": "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type vi alpha-3 gene on chromosome 2q37." + }, + { + "input": "dystonia 23", + "output": "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the cacna1b gene on chromosome 9q34." + }, + { + "input": "dystonia 24", + "output": "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ano3) gene on chromosome 11p14." + }, + { + "input": "episodic kinesigenic dyskinesia 1", + "output": "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (prrt2) on chromosome 16p11." + }, + { + "input": "episodic kinesigenic dyskinesia 2", + "output": "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1." + }, + { + "input": "dystonia 25", + "output": "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gnal gene on chromosome 18p11." + }, + { + "input": "dystonia 12", + "output": "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the n,k-atpase (atp1a3) on chromosome 19q13." + }, + { + "input": "x-linked dystonia-parkinsonism", + "output": "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in x-linked recessive inheritance of sva retrotransposon insertion in the intron of the tata-box binding protein associated factor 1 gene (taf1) on chromosome xq13.1." + }, + { + "input": "torsion dystonia with onset in infancy", + "output": "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy." + }, + { + "input": "enhanced s-cone syndrome", + "output": "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group e member 3 gene (nr2e3) on chromosome 15q23." + }, + { + "input": "wolcott-rallison syndrome", + "output": "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (eif2ak3) gene on chromosome 2p11.2." + }, + { + "input": "familial cold autoinflammatory syndrome", + "output": "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia." + }, + { + "input": "familial cold autoinflammatory syndrome 1", + "output": "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the nlrp gene on chromosome 1q44." + }, + { + "input": "familial cold autoinflammatory syndrome 2", + "output": "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the nlrp12 gene on chromosome 19q13." + }, + { + "input": "familial cold autoinflammatory syndrome 3", + "output": "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. fcas3 has_material_basis_in heterozygous deletion within the plcg2 gene on chromosome 16q." + }, + { + "input": "familial cold autoinflammatory syndrome 4", + "output": "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the nlrc4 gene on chromosome 2p22." + }, + { + "input": "fanconi-like syndrome", + "output": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies." + }, + { + "input": "fuhrmann syndrome", + "output": "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the wnt family member 7a (wnt7a) gene on chromosome 3p25." + }, + { + "input": "giant axonal neuropathy 1", + "output": "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (gan) gene on chromosome 16q23." + }, + { + "input": "giant axonal neuropathy 2", + "output": "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the ddb1- and cul4-associated factor 8 (dcaf8) gene on chromosome 1q23." + }, + { + "input": "hypogonadotropic hypogonadism", + "output": "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone." + }, + { + "input": "hypogonadotropic hypogonadism 11 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the tacr3 gene on chromosome 4q24." + }, + { + "input": "hypogonadotropic hypogonadism 12 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the gnrh1 gene on chromosome 8p21." + }, + { + "input": "hypogonadotropic hypogonadism 13 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the kiss1 gene on chromosome 1q32." + }, + { + "input": "hypogonadotropic hypogonadism 8 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the kiss1r gene on chromosome 19p13, sometimes in association with mutation in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 15 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the hs6st1 gene on chromosome 2q14, sometimes in association with mutations in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 18 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the il17rd gene on chromosome 3p14, sometimes in association with mutation in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 4 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (prok2) on chromosome 3p13, sometimes in association with mutation in another gene." + }, + { + "input": "hypogonadotropic hypogonadism 7 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the gnrhr gene on chromosome 4q13, sometimes in association with mutation in another gene. no patients with anosmia have been reported." + }, + { + "input": "hypogonadotropic hypogonadism 17 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the spry4 gene on chromosome 5q31, sometimes in association with mutations in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 16 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the sema3a gene on chromosome 7, sometimes in association with mutations in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 22 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the fezf1 gene on chromosome 7q31." + }, + { + "input": "hypogonadotropic hypogonadism 20 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the fgf17 gene on chromosome 8p21, sometimes in association with mutations in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 2 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the fgfr1 gene on chromosome 8p11, sometimes in association with mutation in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 5 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the chd7 gene on chromosome 8q12." + }, + { + "input": "hypogonadotropic hypogonadism 9 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the nelf gene on chromosome 9q34, sometimes in association with mutation in another gene." + }, + { + "input": "hypogonadotropic hypogonadism 6 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the fgf8 gene on chromosome 10q24, sometimes in association with mutation in another gene." + }, + { + "input": "hypogonadotropic hypogonadism 14 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the wdr11 gene on chromosome 10q26." + }, + { + "input": "hypogonadotropic hypogonadism 24 without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the fshb gene on chromosome 11p14." + }, + { + "input": "hypogonadotropic hypogonadism 10 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the tac3 gene on chromosome 12q13." + }, + { + "input": "hypogonadotropic hypogonadism 19 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the dusp6 gene on chromosome 12q22, sometimes in association with mutations in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 23 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the lhb gene on chromosome 19q13." + }, + { + "input": "hypogonadotropic hypogonadism 3 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokr2 gene on chromosome 20p12, sometimes in association with mutation in another gene." + }, + { + "input": "hypogonadotropic hypogonadism 21 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the flrt3 gene on 20p11, sometimes in association with mutations in other genes." + }, + { + "input": "hypogonadotropic hypogonadism 1 with or without anosmia", + "output": "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the kal1 gene on chromosome xp22.3, sometimes in association with mutation in another gene." + }, + { + "input": "ocular albinism with sensorineural deafness", + "output": "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene mitf on chromosome 3p13 and in the tyrosinase tyr gene on chromosome 11q14.3 that mitf regulates." + }, + { + "input": "lethal congenital glycogen storage disease of heart", + "output": "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of amp-activated protein kinase (prkag2) on chromosome 7q36." + }, + { + "input": "autosomal dominant macrothrombocytopenia tubb1-related", + "output": "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (tubb1) gene on chromosome 20q13.3." + }, + { + "input": "huntington's disease-like 1", + "output": "A prion disease that is characterized by a phenocopy of huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (prnp) gene on chromosome 20p13." + }, + { + "input": "huntington's disease-like 2", + "output": "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a cag/ctg repeat in the junctophilin-3 gene (jph3) on chromosome 16q24." + }, + { + "input": "autosomal recessive hypercholesterolemia", + "output": "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (ldl) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (ldlrap1) on chromosome 1p36." + }, + { + "input": "bh4-deficient hyperphenylalaninemia a", + "output": "A tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (pts) on chromosome 11q23.1." + }, + { + "input": "autosomal dominant hypocalcemia 1", + "output": "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (casr) on chromosome 3q21." + }, + { + "input": "autosomal dominant hypocalcemia 2", + "output": "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the g protein subunit alpha 11 gene (gna11) on chromosome 19p13." + }, + { + "input": "autosomal dominant hypocalcemia", + "output": "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone." + }, + { + "input": "immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome", + "output": "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in x-linked recessive mutation in the forkhead box p3 (foxp3) gene on chromosome xp11." + }, + { + "input": "pcwh syndrome", + "output": "A syndrome that is characterized by the association of the features of waardenburg-shah syndrome (sensorineural hearing loss, pigmentary abnormalities and hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the sry-box 10 (sox10) gene on chromosome 22q13." + }, + { + "input": "nasu-hakola disease", + "output": "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the tyro protein tyrosine kinase binding protein (tyrobp) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (trem2) gene on chromosome 6p21." + }, + { + "input": "riddle syndrome", + "output": "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (rnf168) gene on chromosome 3q29." + }, + { + "input": "sorsby's fundus dystrophy", + "output": "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the timp metallopeptidase inhibitor 3 (timp3) gene on chromosome 22q12." + }, + { + "input": "spinocerebellar ataxia with axonal neuropathy 1", + "output": "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the tdp1 gene on chromosome 14q32.11." + }, + { + "input": "spondylocarpotarsal synostosis syndrome", + "output": "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin b (flnb) gene on chromosome 3p14.3." + }, + { + "input": "thiamine-responsive megaloblastic anemia syndrome", + "output": "A syndrome that is characterized by megaloblastic anemia, non-type i diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (slc19a2) gene on chromosome 1q24." + }, + { + "input": "congenital amegakaryocytic thrombocytopenia", + "output": "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (mpl) on chromosome 1p34." + }, + { + "input": "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome", + "output": "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (tp63) gene on chromosome 3q27." + }, + { + "input": "hereditary neutrophilia", + "output": "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (csf3r) gene on chromosome 1p34." + }, + { + "input": "aromatase excess syndrome", + "output": "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (cyp19a1) with various partners, brought about by translocations and resulting in gain of function of the cyp19a1 gene." + }, + { + "input": "aromatic l-amino acid decarboxylase deficiency", + "output": "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (ddc) on chromosome 7p12." + }, + { + "input": "neurogenic-type arthrogryposis multiplex congenita-2", + "output": "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ergic1) on chromosome region 5q35." + }, + { + "input": "brain small vessel disease 1", + "output": "A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases axenfeld-riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type iv alpha 1 chain gene (col4a1) on chromosome 13q34." + }, + { + "input": "branched-chain keto acid dehydrogenase kinase deficiency", + "output": "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (bckdk) on chromosome 16p11." + }, + { + "input": "camptodactyly-arthropathy-coxa vara-pericarditis syndrome", + "output": "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (prg4) on chromosome 1q31." + }, + { + "input": "carvajal syndrome", + "output": "A naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24." + }, + { + "input": "carnitine palmitoyltransferase i deficiency", + "output": "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1a gene (cpt1a) on chromosome 11q13." + }, + { + "input": "cortical dysplasia-focal epilepsy syndrome", + "output": "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (cntnap2) gene on chromosome 7q35-q36." + }, + { + "input": "complex cortical dysplasia with other brain malformations", + "output": "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations." + }, + { + "input": "complex cortical dysplasia with other brain malformations 7", + "output": "A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2b class iib (tubb2b) gene on chromosome 6p25." + }, + { + "input": "complex cortical dysplasia with other brain malformations 2", + "output": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5c (kif5c) gene on chromosome 2q23." + }, + { + "input": "complex cortical dysplasia with other brain malformations 3", + "output": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2a (kif2a) gene on chromosome 5q12." + }, + { + "input": "complex cortical dysplasia with other brain malformations 5", + "output": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2a class iia (tubb2a) gene on chromosome 6p25." + }, + { + "input": "complex cortical dysplasia with other brain malformations 6", + "output": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class i (tubb) gene on chromosome 6p21." + }, + { + "input": "complex cortical dysplasia with other brain malformations 1", + "output": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class iii (tubb3) gene on chromosome 16q24.3." + }, + { + "input": "complex cortical dysplasia with other brain malformations 4", + "output": "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21." + }, + { + "input": "cortisone reductase deficiency", + "output": "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism." + }, + { + "input": "cortisone reductase deficiency 2", + "output": "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in acth-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type i (hsd11b1) gene on chromosome 1q32." + }, + { + "input": "cortisone reductase deficiency 1", + "output": "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires nadph regeneration by hexose-6-phosphate dehydrogenase, resulting in acth-mediated adrenal hyperandrogenism. it has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (h6pd) on chromosome 1p36." + }, + { + "input": "cystathioninuria", + "output": "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (cth) on chromosome 1p31." + }, + { + "input": "brachyolmia-amelogenesis imperfecta syndrome", + "output": "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (ltbp3) on chromosome 11q13." + }, + { + "input": "donnai-barrow syndrome", + "output": "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the ldl receptor related protein 2 gene (lrp2) on chromosome 2q31." + }, + { + "input": "dopamine beta-hydroxylase deficiency", + "output": "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (dbh) on chromosome 9q34." + }, + { + "input": "3-methylglutaconic aciduria type 5", + "output": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the dnajc19 gene on chromosome 3q26." + }, + { + "input": "3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome", + "output": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the serac1 gene on chromosome 6q25." + }, + { + "input": "3-methylglutaconic aciduria type 1", + "output": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the auh gene on chromosome 9q22." + }, + { + "input": "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia", + "output": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the clpb gene on chromosome 11q13." + }, + { + "input": "3-methylglutaconic aciduria type 3", + "output": "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the opa3 gene." + }, + { + "input": "leber congenital amaurosis 9", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the nmnat1 gene on chromosome 1p36." + }, + { + "input": "3-methylglutaconic aciduria type 4", + "output": "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid." + }, + { + "input": "achromatopsia 2", + "output": "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the cnga3 gene on chromosome 2q11." + }, + { + "input": "achromatopsia 3", + "output": "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the cngb3 gene on chromosome 8q2." + }, + { + "input": "achromatopsia 7", + "output": "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the atf6 gene on chromosome 1q23." + }, + { + "input": "achromatopsia 4", + "output": "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the gnat2 gene on chromosome 1p13." + }, + { + "input": "advanced sleep phase syndrome 1", + "output": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the per2 gene on chromosome 2q37." + }, + { + "input": "advanced sleep phase syndrome 2", + "output": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the csnk1d gene on chromosome 17q25." + }, + { + "input": "advanced sleep phase syndrome 3", + "output": "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the per3 gene on chromosome 1p36.23." + }, + { + "input": "age related macular degeneration 1", + "output": "An age related macular degeneration associated with polymorphism in the hemicentin gene (hmcn1) on chromosome 1q25.3-q31.1." + }, + { + "input": "age related macular degeneration 2", + "output": "An age related macular degeneration conferred by variation in the abca4 gene on chromosome 1p22." + }, + { + "input": "leber congenital amaurosis 2", + "output": "A leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the rpe65 gene on chromosome 1." + }, + { + "input": "age related macular degeneration 4", + "output": "An age related macular degeneration conferred by variation in the cfh gene on chromosome 1q31." + }, + { + "input": "age related macular degeneration 6", + "output": "An age related macular degeneration conferred by heterozygous mutation in the raxl1 gene on chromosome 19p13." + }, + { + "input": "age related macular degeneration 7", + "output": "An age related macular degeneration conferred by variation in the htra1 gene on chromosome 10q26." + }, + { + "input": "age related macular degeneration 8", + "output": "An age related macular degeneration that has_material_basis_in mutation in the arms2 gene, originally designated loc387715, on chromosome 10q26." + }, + { + "input": "age related macular degeneration 9", + "output": "An age related macular degeneration conferred by variation in the c3 gene on chromosome 19p13." + }, + { + "input": "age related macular degeneration 10", + "output": "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (grch38). tlr4 has been put forth as a candidate gene." + }, + { + "input": "age related macular degeneration 11", + "output": "An age related macular degeneration conferred by variation in the cst3 gene on chromosome 20p11." + }, + { + "input": "age related macular degeneration 12", + "output": "An age related macular degeneration conferred by mutation in the cx3cr1 gene on chromosome 3p22." + }, + { + "input": "age related macular degeneration 13", + "output": "An age related macular degeneration conferred by heterozygous mutation in the cfi gene on chromosome 4q25." + }, + { + "input": "age related macular degeneration 14", + "output": "An age related macular degeneration associated with variation at or near the c2 and cfb genes on chromosome 6p21." + }, + { + "input": "age related macular degeneration 15", + "output": "An age related macular degeneration conferred by variation in the c9 gene on chromosome 5p13." + }, + { + "input": "age related macular degeneration 5", + "output": "An age related macular degeneration onferred by heterozygous mutation in the ercc6 gene on chromosome 10q11." + }, + { + "input": "alpha thalassemia-intellectual disability syndrome type 1", + "output": "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (hba1) and alpha-2 (hba2) genes, among others." + }, + { + "input": "alpha thalassemia-x-linked intellectual disability syndrome", + "output": "An alpha thalassemia that has_material_basis_in mutation in the atrx gene on xq21." + }, + { + "input": "hemoglobin h disease", + "output": "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (hba1) and alpha-2 (hba2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either hba1 or hba2 on the other." + }, + { + "input": "autosomal dominant alport syndrome", + "output": "An alport syndrome that has_material_basis_in heterozygous mutation in the col4a3 gene." + }, + { + "input": "autosomal recessive alport syndrome", + "output": "An alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the col4a3 or the col4a4 gene, both of which map to chromosome 2q." + }, + { + "input": "x-linked alport syndrome", + "output": "An alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type iv (col4a5)." + }, + { + "input": "alzheimer's disease 2", + "output": "An alzheimer's disease that is characterized by an association of the apolipoprotein e e4 allele." + }, + { + "input": "alzheimer's disease 16", + "output": "An alzheimer's disease that is characterized by an associated with a risk allele in in the pcdh11x gene on chromosome xq21.3." + }, + { + "input": "alzheimer's disease 5", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12." + }, + { + "input": "alzheimer's disease 6", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 10q24." + }, + { + "input": "alzheimer's disease 7", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 10p13." + }, + { + "input": "alzheimer's disease 4", + "output": "An alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (psen2) on chromosome 1q42." + }, + { + "input": "alzheimer's disease 8", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21." + }, + { + "input": "alzheimer's disease 3", + "output": "An alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (psen1) on chromosome 14q24." + }, + { + "input": "alzheimer's disease 10", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 7q36." + }, + { + "input": "alzheimer's disease 11", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 9p22.1." + }, + { + "input": "alzheimer's disease 12", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22." + }, + { + "input": "alzheimer's disease 13", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 1q21." + }, + { + "input": "alzheimer's disease 14", + "output": "An alzheimer's disease that is characterized by an associated with variation in the region 1q25." + }, + { + "input": "alzheimer's disease 15", + "output": "An alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24." + }, + { + "input": "alzheimer's disease 17", + "output": "An alzheimer's disease that is characterized by an associated with mutations in the gene trem2." + }, + { + "input": "alzheimer's disease 18", + "output": "An alzheimer's disease that has_material_basis_in a mutation in the adam10 gene on chromosome 15q21." + }, + { + "input": "alzheimer's disease 19", + "output": "An alzheimer's disease that is characterized by associated variants of the gene pld3." + }, + { + "input": "amelogenesis imperfecta type 1b", + "output": "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (enam) on chromosome 4q13." + }, + { + "input": "amelogenesis imperfecta type 4", + "output": "An amelogenesis imperfecta which can has_material_basis_in mutation in the dlx3 gene." + }, + { + "input": "amelogenesis imperfecta type 1a", + "output": "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (lamb3) on chromosome 1q32." + }, + { + "input": "amelogenesis imperfecta type 3a", + "output": "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the fam83h gene on chromosome 8q24." + }, + { + "input": "amelogenesis imperfecta type 1c", + "output": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (enam)." + }, + { + "input": "amelogenesis imperfecta type 2a1", + "output": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (klk4) on chromosome 19q13." + }, + { + "input": "amelogenesis imperfecta type 1e", + "output": "An amelogenesis imperfecta that has_material_basis_in x-linked dominant mutation in the gene encoding amelogenin (amelx)." + }, + { + "input": "x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2", + "output": "An amelogenesis imperfecta associated with mutation in a gene in the xq22-q28 region." + }, + { + "input": "amelogenesis imperfecta hypomaturation type 2a2", + "output": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (mmp20)." + }, + { + "input": "amelogenesis imperfecta hypomaturation type 2a3", + "output": "An amelogenesis imperfecta caused by homozygous mutation in the wdr72 gene." + }, + { + "input": "amelogenesis imperfecta hypomaturation type 2a4", + "output": "An amelogenesis imperfecta caused by homozygous mutation in the c4orf26 gene on chromosome 4q21." + }, + { + "input": "amelogenesis imperfecta hypomaturation type 2a5", + "output": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the slc24a4 gene on chromosome 14q32." + }, + { + "input": "amelogenesis imperfecta type 1h", + "output": "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (itgb6) on chromosome 2q24." + }, + { + "input": "amelogenesis imperfecta type 1f", + "output": "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (ambn) on chromosome 4q13." + }, + { + "input": "amelogenesis imperfecta type 1g", + "output": "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the fam20a gene on chromosome 17q24." + }, + { + "input": "juvenile amyotrophic lateral sclerosis with dementia", + "output": "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia." + }, + { + "input": "frontotemporal dementia and/or amyotrophic lateral sclerosis-3", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the sqstm1 gene on chromosome 5q35." + }, + { + "input": "frontotemporal dementia and/or amyotrophic lateral sclerosis-4", + "output": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the tbk1 gene on chromosome 12q14." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 1", + "output": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the tgfb3 gene on chromosome 14q24." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 3", + "output": "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 4", + "output": "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 5", + "output": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the tmem43 gene on chromosome 3p25." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 6", + "output": "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 8", + "output": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (dsp) on chromosome 6p24." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 9", + "output": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the pkp2 gene on chromosome 12p11." + }, + { + "input": "leber congenital amaurosis 1", + "output": "A leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the gucy2d gene on chromosome 17p13." + }, + { + "input": "leber congenital amaurosis 8", + "output": "A leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the crb1 gene on chromosome 1q31-q32." + }, + { + "input": "leber congenital amaurosis 12", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the rd3 gene on chromosome 1q32." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 10", + "output": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (dsg2) on chromosome 18q12." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 11", + "output": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (dsc2) on chromosome 18q." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 12", + "output": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (jup) on chromosome 17q21." + }, + { + "input": "arrhythmogenic right ventricular dysplasia 13", + "output": "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the ctnna3 gene on chromosome 10q21." + }, + { + "input": "asphyxiating thoracic dystrophy 1", + "output": "An asphyxiating thoracic dystrophy associated with variation in the region 15q13." + }, + { + "input": "asphyxiating thoracic dystrophy 2", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the ift80 gene on chromosome 3q25." + }, + { + "input": "asphyxiating thoracic dystrophy 3", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the dync2h1 gene on chromosome 11q22." + }, + { + "input": "asphyxiating thoracic dystrophy 4", + "output": "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the ttc21b gene on chromosome 2q24." + }, + { + "input": "asphyxiating thoracic dystrophy 5", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the wdr19 gene on chromosome 4p14." + }, + { + "input": "short-rib thoracic dysplasia 7 with or without polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the wdr35 gene on chromosome 2p21.1." + }, + { + "input": "short-rib thoracic dysplasia 10 with or without polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ift172 gene on chromosome 2p23." + }, + { + "input": "short-rib thoracic dysplasia 6 with or without polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the nek1 gene on chromosome 4q33." + }, + { + "input": "short-rib thoracic dysplasia 13 with or without polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the cep120 gene on chromosome 5q23." + }, + { + "input": "short-rib thoracic dysplasia 8 with or without polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the wdr60 gene on chromosome 7q36." + }, + { + "input": "short-rib thoracic dysplasia 11 with or without polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the wdr34 gene on chromosome 9q34." + }, + { + "input": "short-rib thoracic dysplasia 14 with polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the kiaa0586 gene on chromosome 14q23." + }, + { + "input": "short-rib thoracic dysplasia 9 with or without polydactyly", + "output": "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ift140 gene on chromosome 16p13." + }, + { + "input": "atopic dermatitis 2", + "output": "An atopic dermatitis conferred by variation in the flg gene on chromosome 1q21." + }, + { + "input": "atopic dermatitis 3", + "output": "An atopic dermatitis associated with variation in the region 20p." + }, + { + "input": "atopic dermatitis 4", + "output": "An atopic dermatitis associated with variation in the region 17q25.3." + }, + { + "input": "atopic dermatitis 5", + "output": "An atopic dermatitis associated with variation in the region 13q12-q14." + }, + { + "input": "atopic dermatitis 6", + "output": "An atopic dermatitis associated with variation in the region 5q31-q33." + }, + { + "input": "atopic dermatitis 7", + "output": "An atopic dermatitis associated with variation in the region 11q13.5." + }, + { + "input": "atopic dermatitis 8", + "output": "An atopic dermatitis associated with variation in the region 4q22.1." + }, + { + "input": "atopic dermatitis 9", + "output": "An atopic dermatitis associated with variation in the region 3p24." + }, + { + "input": "atrial heart septal defect 1", + "output": "An atrial heart septal defect type 1 associated with variation in the region 5p." + }, + { + "input": "atrial heart septal defect 2", + "output": "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the gata4 gene on chromosome 8p23." + }, + { + "input": "atrial heart septal defect 3", + "output": "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (myh6) on chromosome 14q12." + }, + { + "input": "atrial heart septal defect 4", + "output": "An atrial heart septal defect type 4 that has_material_basis_in mutation in the tbx20 gene." + }, + { + "input": "atrial heart septal defect 5", + "output": "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the actc1 gene on chromosome 15q14." + }, + { + "input": "atrial heart septal defect 6", + "output": "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the tll1 gene on chromosome 4q32." + }, + { + "input": "atrial heart septal defect 7", + "output": "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the nkx2-5 gene on chromosome 5q35." + }, + { + "input": "atrial heart septal defect 8", + "output": "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the cited2 gene on chromosome 6q23.3." + }, + { + "input": "atrial heart septal defect 9", + "output": "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the gata6 gene on chromosome 18q11." + }, + { + "input": "autoimmune lymphoproliferative syndrome type 2a", + "output": "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the casp10 gene." + }, + { + "input": "autoimmune lymphoproliferative syndrome type 2b", + "output": "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the casp8 gene on chromosome 2q33." + }, + { + "input": "autoimmune lymphoproliferative syndrome type 4", + "output": "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the nras gene or the kras gene on chromosome 12p12." + }, + { + "input": "leber congenital amaurosis 16", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the kcnj13 gene on chromosome 2q37." + }, + { + "input": "autoimmune lymphoproliferative syndrome type 3", + "output": "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the prkcd gene on chromosome 3p21." + }, + { + "input": "axenfeld-rieger syndrome type 1", + "output": "An axenfeld-rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene pitx2 on chromosome 4q25." + }, + { + "input": "axenfeld-rieger syndrome type 2", + "output": "An axenfeld-rieger syndrome that has_material_basis_in deletions in the region 13q14." + }, + { + "input": "axenfeld-rieger syndrome type 3", + "output": "An axenfeld-rieger syndrome that has_material_basis_in heterozygous mutation in the foxc1 gene on chromosome 6p25." + }, + { + "input": "bardet-biedl syndrome 1", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the bbs1 gene on chromosome 11q13." + }, + { + "input": "bardet-biedl syndrome 2", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the bbs2 gene on chromosome 16q13." + }, + { + "input": "bardet-biedl syndrome 3", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the arl6 gene on chromosome 3q11." + }, + { + "input": "bardet-biedl syndrome 4", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the bbs4 gene on chromosome 15q24." + }, + { + "input": "bardet-biedl syndrome 5", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the bbs5 gene on chromosome 2q31." + }, + { + "input": "bardet-biedl syndrome 6", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mkks gene on chromosome 20p12." + }, + { + "input": "bardet-biedl syndrome 7", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the bbs7 gene on chromosome 4q27." + }, + { + "input": "bardet-biedl syndrome 8", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the ttc8 gene on chromosome 14q31." + }, + { + "input": "bardet-biedl syndrome 9", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the pthb1 gene on chromosome 7p14." + }, + { + "input": "bardet-biedl syndrome 10", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the bbs10 gene on chromosome 12q21." + }, + { + "input": "bardet-biedl syndrome 11", + "output": "A bardet-biedl syndrome that has_material_basis_in mutation in the trim32 gene on chromosome 9q33." + }, + { + "input": "bardet-biedl syndrome 12", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the bbs12 gene on chromosome 4q27." + }, + { + "input": "bardet-biedl syndrome 13", + "output": "A bardet-biedl syndrome that has_material_basis_in compound heterozygous mutation in the mks1 gene on chromosome 17q22." + }, + { + "input": "bardet-biedl syndrome 14", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the cep290 gene on chromosome 12q21." + }, + { + "input": "bardet-biedl syndrome 15", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the wdpcp gene on chromosome 2p15." + }, + { + "input": "bardet-biedl syndrome 16", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the sdccag8 gene on chromosome 1q43." + }, + { + "input": "bardet-biedl syndrome 17", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the lztfl1 gene on chromosome 3p21." + }, + { + "input": "bardet-biedl syndrome 18", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the bbip1 gene on chromosome 10q25." + }, + { + "input": "bardet-biedl syndrome 19", + "output": "A bardet-biedl syndrome that has_material_basis_in homozygous mutation in the ift27 gene on chromosome 22q12." + }, + { + "input": "bartter disease type 1", + "output": "A bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (slc12a1) on chromosome 15q21." + }, + { + "input": "bartter disease type 2", + "output": "A bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel romk gene (kcnj1) on chromosome 11q24." + }, + { + "input": "bartter disease type 3", + "output": "A bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel b gene (clcnkb) on chromosome 1p36." + }, + { + "input": "bartter disease type 4a", + "output": "A bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the bsnd gene on chromosome 1p32." + }, + { + "input": "bartter disease type 4b", + "output": "A bartter disease that has_material_basis_in simultaneous mutation in both the clcnka and clcnkb genes." + }, + { + "input": "bartter disease type 5", + "output": "A bartter disease that has_material_basis_in mutation in the maged2 gene on chromosome xp11." + }, + { + "input": "charcot-marie-tooth disease type 1a", + "output": "A charcot-marie-tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (pmp22)." + }, + { + "input": "charcot-marie-tooth disease type 1f", + "output": "A charcot-marie-tooth disease type 1 that has_material_basis_in mutation in the nefl gene." + }, + { + "input": "charcot-marie-tooth disease type 1d", + "output": "A charcot-marie-tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (egr2)." + }, + { + "input": "charcot-marie-tooth disease type 1c", + "output": "A charcot-marie-tooth disease type 1 that has_material_basis_in heterozygous mutation in the litaf gene on chromosome 16p13." + }, + { + "input": "charcot-marie-tooth disease type 1b", + "output": "A charcot-marie-tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (mpz)." + }, + { + "input": "charcot-marie-tooth disease type 1e", + "output": "A charcot-marie-tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (pmp22)." + }, + { + "input": "charcot-marie-tooth disease type 2a1", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the kif1b gene on chromosome 1p36." + }, + { + "input": "charcot-marie-tooth disease type 2a2a", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the mfn2 gene on chromosome 1p36.22." + }, + { + "input": "charcot-marie-tooth disease type 2b1", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin a/c gene (lmna) on chromosome 1q22." + }, + { + "input": "charcot-marie-tooth disease type 2j", + "output": "A charcot-marie-tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (mpz) on chromosome 1q23." + }, + { + "input": "charcot-marie-tooth disease type 2i", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (mpz) on chromosome 1q23." + }, + { + "input": "charcot-marie-tooth disease type 2b", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the rab7 gene on chromosome 3q21." + }, + { + "input": "charcot-marie-tooth disease axonal type 2t", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the mme gene on chromosome 3q25." + }, + { + "input": "charcot-marie-tooth disease type 2r", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the trim2 gene on chromosome 4q." + }, + { + "input": "charcot-marie-tooth disease, axonal type 2w", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the hars gene on chromosome 5q31." + }, + { + "input": "charcot-marie-tooth disease axonal type 2f", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kd protein-1 (hspb1)." + }, + { + "input": "charcot-marie-tooth disease type 2d", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in mutation in the gars1 gene." + }, + { + "input": "charcot-marie-tooth disease type 2e", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (nefl) on chromosome 8p21." + }, + { + "input": "charcot-marie-tooth disease axonal type 2h", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23." + }, + { + "input": "charcot-marie-tooth disease axonal type 2k", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the gdap1 gene on chromosome 8q." + }, + { + "input": "charcot-marie-tooth disease type 2y", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the vcp gene on chromosome 9p13." + }, + { + "input": "charcot-marie-tooth disease axonal type 2p", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the lrsam1 gene on chromosome 9q33." + }, + { + "input": "charcot-marie-tooth disease axonal type 2q", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the dhtkd1 gene on chromosome 10p14." + }, + { + "input": "charcot-marie-tooth disease axonal type 2s", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ighmbp2 gene on chromosome 11q13." + }, + { + "input": "charcot-marie-tooth disease axonal type 2u", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the mars gene on chromosome 12q13." + }, + { + "input": "charcot-marie-tooth disease axonal type 2l", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in mutation in the hspb8 gene." + }, + { + "input": "charcot-marie-tooth disease axonal type 2o", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the dync1h1 gene on chromosome 14q32." + }, + { + "input": "charcot-marie-tooth disease axonal type 2x", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the spg11 gene on chromosome 15q21." + }, + { + "input": "charcot-marie-tooth disease axonal type 2n", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the aars gene on chromosome 16q21." + }, + { + "input": "charcot-marie-tooth disease axonal type 2v", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the naglu gene on chromosome 17q21." + }, + { + "input": "charcot-marie-tooth disease type 2b2", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in homozygous mutation in the med25 gene." + }, + { + "input": "charcot-marie-tooth disease axonal type 2cc", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the nefh gene on chromosome 22q12." + }, + { + "input": "charcot-marie-tooth disease axonal type 2z", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the morc2 gene on chromosome 22q12." + }, + { + "input": "charcot-marie-tooth disease axonal type 2c", + "output": "A charcot-marie-tooth disease type 2 that has_material_basis_in heterozygous mutation in the trpv4 gene on chromosome 12q24." + }, + { + "input": "charcot-marie-tooth disease type 4c", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the sh3tc2 gene." + }, + { + "input": "charcot-marie-tooth disease type 4j", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the fig4 gene on chromosome 6q21." + }, + { + "input": "charcot-marie-tooth disease type 4a", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (gdap1) on chromosome 8q21." + }, + { + "input": "charcot-marie-tooth disease type 4d", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in homozygous mutation in the n-myc downstream-regulated gene-1 (ndrg1) on chromosome 8q24." + }, + { + "input": "charcot-marie-tooth disease type 4k", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the surf1 gene on chromosome 9q34." + }, + { + "input": "leber congenital amaurosis 14", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the lrat gene on chromosome 4q31." + }, + { + "input": "leber congenital amaurosis 15", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the tulp1 gene on chromosome 6p21.3." + }, + { + "input": "charcot-marie-tooth disease type 4b2", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in mutation in the sbf2 gene." + }, + { + "input": "charcot-marie-tooth disease type 4b1", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (mtmr2)." + }, + { + "input": "charcot-marie-tooth disease type 4h", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (fgd4)." + }, + { + "input": "charcot-marie-tooth disease type 4f", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (prx) on chromosome 19q13." + }, + { + "input": "charcot-marie-tooth disease type 4b3", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the sbf1 gene on chromosome 22q." + }, + { + "input": "charcot-marie-tooth disease type 4e", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the egr2 gene on chromosome 10q21 or by heterozygous mutation in the mpz gene on chromosome 1q23." + }, + { + "input": "charcot-marie-tooth disease type 4g", + "output": "A charcot-marie-tooth disease type 4 that has_material_basis_in homozygous mutation in the hk1 gene on chromosome 10q22." + }, + { + "input": "charcot-marie-tooth disease dominant intermediate b", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (dnm2)." + }, + { + "input": "charcot-marie-tooth disease recessive intermediate c", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the plekhg5 gene on chromosome 1p36." + }, + { + "input": "charcot-marie-tooth disease dominant intermediate c", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in heterozygous mutation in the yars gene on chromosome 1p35." + }, + { + "input": "charcot-marie-tooth disease dominant intermediate d", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (mpz) on chromosome 1q23." + }, + { + "input": "charcot-marie-tooth disease recessive intermediate a", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in homozygous mutation in the gdap1 gene on chromosome 8q21." + }, + { + "input": "charcot-marie-tooth disease dominant intermediate a", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1." + }, + { + "input": "charcot-marie-tooth disease recessive intermediate d", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in homozygous mutation in the cox6a1 gene on chromosome 12q24." + }, + { + "input": "charcot-marie-tooth disease recessive intermediate b", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the kars gene on chromosome 16q23." + }, + { + "input": "charcot-marie-tooth disease dominant intermediate e", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in heterozygous mutation in the inf2 gene on chromosome 14q32." + }, + { + "input": "charcot-marie-tooth disease dominant intermediate f", + "output": "A charcot-marie-tooth disease intermediate type that has_material_basis_in heterozygous mutation in the gnb4 gene on chromosome 3q28." + }, + { + "input": "charcot-marie-tooth disease x-linked dominant 6", + "output": "A charcot-marie-tooth disease x-linked that has_material_basis_in mutation in the pdk3 gene on chromosome xp22." + }, + { + "input": "charcot-marie-tooth disease x-linked recessive 2", + "output": "A charcot-marie-tooth disease x-linked that has_material_basis_in variation in the region xp22.2." + }, + { + "input": "charcot-marie-tooth disease x-linked dominant 1", + "output": "A charcot-marie-tooth disease x-linked that has_material_basis_in hemizygous or heterozygous mutation in the gjb1 gene on chromosome xq13." + }, + { + "input": "charcot-marie-tooth disease x-linked recessive 5", + "output": "A charcot-marie-tooth disease x-linked that has_material_basis_in loss-of-function mutation in the prps1 gene on chromosome xq22." + }, + { + "input": "charcot-marie-tooth disease x-linked recessive 3", + "output": "A charcot-marie-tooth disease x-linked that has_material_basis_in variation in the region xq26." + }, + { + "input": "charcot-marie-tooth disease x-linked recessive 4", + "output": "A charcot-marie-tooth disease x-linked that has_material_basis_in mutation in the aifm1 gene on chromosome xq26." + }, + { + "input": "isolated cleft palate", + "output": "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate." + }, + { + "input": "cleft soft palate", + "output": "A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate." + }, + { + "input": "leber congenital amaurosis 5", + "output": "A leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the lca5 gene on chromosome 6q14.1." + }, + { + "input": "leber congenital amaurosis 11", + "output": "A leber congenital amaurosis that has_material_basis_in mutation n the impdh1 gene on chromosome 7q31.3-q32." + }, + { + "input": "leber congenital amaurosis 17", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the gdf6 gene on chromosome 8q22." + }, + { + "input": "brugada syndrome 1", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the scn5a gene on chromosome 3p22." + }, + { + "input": "brugada syndrome 2", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the gpd1l gene on chromosome 3p22." + }, + { + "input": "brugada syndrome 3", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1c subunit of the l-type voltage-dependent calcium channel (cacna1c) on chromosome 12p13." + }, + { + "input": "brugada syndrome 4", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent l-type calcium channel (cacnb2) on chromosome 10p12." + }, + { + "input": "brugada syndrome 5", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the scn1b gene on chromosome 19q13." + }, + { + "input": "brugada syndrome 6", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the kcne3 gene on chromosome 11q13." + }, + { + "input": "brugada syndrome 7", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the scn3b gene on chromosome 11q24." + }, + { + "input": "brugada syndrome 8", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the hcn4 gene on chromosome 15q24." + }, + { + "input": "brugada syndrome 9", + "output": "A brugada syndrome that has_material_basis_in heterozygous mutation in the kcnd3 gene on chromosome 1p13." + }, + { + "input": "cataract 32 multiple types", + "output": "A cataract that has_material_basis_in mutation in the region 14q22-q23." + }, + { + "input": "cataract 8 multiple types", + "output": "A cataract that has_material_basis_in variation in the region 1pter-p36.13." + }, + { + "input": "cataract 6 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the epha2 gene on chromosome 1p36." + }, + { + "input": "cataract 34 multiple types", + "output": "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2." + }, + { + "input": "cataract 1 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (gja8) on chromosome 1q21." + }, + { + "input": "cataract 29", + "output": "A cataract that has_material_basis_in variation in the region 2pter-p24." + }, + { + "input": "cataract 27", + "output": "A cataract that has_material_basis_in mutation in the region 2p12." + }, + { + "input": "cataract 4 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the gamma-d-crystallin gene (crygd) on chromosome 2q33." + }, + { + "input": "cataract 2 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the crygc gene on chromosome 2q33." + }, + { + "input": "cataract 39 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the crygb gene on chromosome 2q34." + }, + { + "input": "cataract 42", + "output": "A cataract that has_material_basis_in heterozygous mutation in the cryba2 gene on chromosome 2q35." + }, + { + "input": "cataract 18", + "output": "A cataract that has_material_basis_in homozygous mutation in the fyco1 gene on chromosome 3p21.3." + }, + { + "input": "cataract 12 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (bfsp2) on chromosome 3q22." + }, + { + "input": "cataract 20 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the crygs gene on chromosome 3q27." + }, + { + "input": "cataract 41", + "output": "A cataract that has_material_basis_in heterozygous mutation in the wfs1 gene on chromosome 4p16." + }, + { + "input": "cataract 13 with adult i phenotype", + "output": "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the gcnt2 gene on chromosome 6p24." + }, + { + "input": "cataract 46 juvenile-onset", + "output": "A cataract that has_material_basis_in homozygous mutation in the lemd2 gene on chromosome 6p21." + }, + { + "input": "cataract 28", + "output": "A cataract that has_material_basis_in variation in the region 6p12-q12." + }, + { + "input": "cataract 38", + "output": "A cataract that has_material_basis_in homozygous mutation in the agk gene on chromosome 7q34." + }, + { + "input": "cataract 26 multiple types", + "output": "A cataract that has_material_basis_in variation in the region 9q13-q22." + }, + { + "input": "cataract 36", + "output": "A cataract that has_material_basis_in homozygous mutation in the tdrd7 gene on chromosome 9q22.33." + }, + { + "input": "cataract 30", + "output": "A cataract that has_material_basis_in heterozygous mutation in the vim gene on chromosome 10p13." + }, + { + "input": "cataract 11 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the pitx3 gene on chromosome 10q24." + }, + { + "input": "cataract 16 multiple types", + "output": "A cataract that has_material_basis_in heterozygous or homozygous mutation in the cryab gene on chromosome 11q." + }, + { + "input": "cataract 15 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the mip gene on chromosome 12q13." + }, + { + "input": "cataract 37", + "output": "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3." + }, + { + "input": "cataract 14 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (gja3) on chromosome 13q12." + }, + { + "input": "cataract 25", + "output": "A cataract that has_material_basis_in variation in the region 15q21-q22." + }, + { + "input": "cataract 5 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (hsf4) on chromosome 16q22." + }, + { + "input": "cataract 21 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the maf gene on chromosome 16q23." + }, + { + "input": "cataract 24", + "output": "A cataract that has_material_basis_in variation in the region 17p13." + }, + { + "input": "cataract 10 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the cryba1 gene on chromosome 17q11." + }, + { + "input": "cataract 43", + "output": "A cataract that has_material_basis_in heterozygous mutation in the unc45b gene on chromosome 17q12." + }, + { + "input": "cataract 7", + "output": "A cataract that has_material_basis_in variation in the region 17q24." + }, + { + "input": "cataract 35", + "output": "A cataract that has_material_basis_in variation in the region 19q13." + }, + { + "input": "cataract 45", + "output": "A cataract that has_material_basis_in homozygous mutation in the sipa1l3 gene on chromosome 19q13." + }, + { + "input": "cataract 19 multiple types", + "output": "A cataract that has_material_basis_in homozygous mutation in the lim2 gene on chromosome 19q13." + }, + { + "input": "cataract 33", + "output": "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (bfsp1) on chromosome 20p12." + }, + { + "input": "cataract 31 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the chmp4b gene on chromosome 20q11." + }, + { + "input": "cataract 9 multiple types", + "output": "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the cryaa gene, which encodes alpha-a-crystallin, on chromosome 21q22." + }, + { + "input": "cataract 44", + "output": "A cataract that has_material_basis_in homozygous mutation in the lss gene on chromosome 21q22." + }, + { + "input": "cataract 22 multiple types", + "output": "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-b3 crystallin gene (crybb3) on chromosome 22q11." + }, + { + "input": "cataract 3 multiple types", + "output": "A cataract that has_material_basis_in heterozygous mutation in the beta-b2-crystallin gene (crybb2) on chromosome 22q11." + }, + { + "input": "cataract 17 multiple types", + "output": "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-b1 crystallin gene (crybb1) on chromosome 22q12." + }, + { + "input": "cataract 23", + "output": "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-a4 gene (cryba4) on chromosome 22q12." + }, + { + "input": "cataract 40", + "output": "A cataract that has_material_basis_in mutation in the nhs gene on chromosome xp22." + }, + { + "input": "autosomal dominant limb-girdle muscular dystrophy", + "output": "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy", + "output": "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2a", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (capn3) on chromosome 15q15." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2b", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (dysf) on chromosome 2p13." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2c", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (sgcg) on chromosome 13q12." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2d", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (sgca) on chromosome 17q." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2e", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (sgcb) on chromosome 4q12." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2f", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (sgcd)." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2g", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (tcap)." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2h", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (trim32) on chromosome 9q." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2j", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (ttn)." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2l", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ano5 gene on chromosome 11p14." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2q", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the plec1 gene." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2s", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the trappc11 gene on chromosome 4q35." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2w", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the lim zinc finger domain containing 2 gene (lims2) on chromosome 2q14." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2y", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the tor1aip1 gene on chromosome 1q24." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2x", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the bves gene on chromosome 6q21." + }, + { + "input": "leber congenital amaurosis 10", + "output": "A leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe erg abnormalities and has_material_basis_in mutation in the cep290 gene on chromosome 12q21.32." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2o", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein o-mannose beta-1,2-n-acetylglucosaminyltransferase (pomgnt1) on chromosome 1p34." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2p", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (dag1) on chromosome 3p21." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2t", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gmppb gene encoding the beta subunit of gdp-mannose pyrophosphorylase on chromosome 3p21." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2u", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ispd gene on chromosome 7p21." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2m", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (fktn) on chromosome 9q31." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2k", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein o-mannosyltransferase (pomt1)." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2n", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the pomt2 gene on chromosome 14q24.3." + }, + { + "input": "autosomal recessive limb-girdle muscular dystrophy type 2i", + "output": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (fkrp) on chromosome 19q13.3." + }, + { + "input": "autosomal dominant limb-girdle muscular dystrophy type 1h", + "output": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23." + }, + { + "input": "autosomal dominant limb-girdle muscular dystrophy type 2", + "output": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the tnpo3 gene on chromosome 7q32." + }, + { + "input": "autosomal dominant limb-girdle muscular dystrophy type 1", + "output": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the dnajb6 gene on chromosome 7q36." + }, + { + "input": "autosomal dominant limb-girdle muscular dystrophy type 3", + "output": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the hnrnpdl gene on chromosome 4q21." + }, + { + "input": "hypertrophic cardiomyopathy 1", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the myh7 gene on chromosome 14q12." + }, + { + "input": "hypertrophic cardiomyopathy 2", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-t2 gene (tnnt2)." + }, + { + "input": "hypertrophic cardiomyopathy 3", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (tpm1) on chromosome 15q22." + }, + { + "input": "hypertrophic cardiomyopathy 4", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein c (mybpc3) on chromosome 11p11." + }, + { + "input": "hypertrophic cardiomyopathy 21", + "output": "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation." + }, + { + "input": "hypertrophic cardiomyopathy 6", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of amp-activated protein kinase (prkag2)." + }, + { + "input": "hypertrophic cardiomyopathy 7", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the tnni3 gene on chromosome 19q13.4." + }, + { + "input": "hypertrophic cardiomyopathy 8", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the myl3 gene." + }, + { + "input": "hypertrophic cardiomyopathy 9", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ttn gene on chromosome 2q31." + }, + { + "input": "hypertrophic cardiomyopathy 10", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the myl2 gene." + }, + { + "input": "hypertrophic cardiomyopathy 11", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the actc1 gene on chromosome 15q14." + }, + { + "input": "hypertrophic cardiomyopathy 12", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the csrp3 gene on chromosome 11p15." + }, + { + "input": "hypertrophic cardiomyopathy 13", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the tnnc1 gene on chromosome 3p21." + }, + { + "input": "hypertrophic cardiomyopathy 14", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the myh6 gene." + }, + { + "input": "hypertrophic cardiomyopathy 15", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (vcl) on chromosome 10q22." + }, + { + "input": "hypertrophic cardiomyopathy 16", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the myoz2 gene on chromosome 4q26." + }, + { + "input": "hypertrophic cardiomyopathy 17", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (jph2) on chromosome 20q12." + }, + { + "input": "hypertrophic cardiomyopathy 18", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (pln) on chromosome 6q22.1." + }, + { + "input": "hypertrophic cardiomyopathy 20", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the nexn gene on chromosome 1p31.1." + }, + { + "input": "hypertrophic cardiomyopathy 26", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the flnc gene on chromosome 7q32." + }, + { + "input": "hypertrophic cardiomyopathy 25", + "output": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the tcap gene on chromosome 17q12." + }, + { + "input": "leber congenital amaurosis 6", + "output": "A leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the rpgrip1 gene on chromosome 14q11." + }, + { + "input": "leber congenital amaurosis 13", + "output": "A leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the rdh12 gene on chromosome 14q23.3." + }, + { + "input": "leber congenital amaurosis 3", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the spata7 gene on chromosome 14q31." + }, + { + "input": "leber congenital amaurosis 4", + "output": "A leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the aipl1 gene on chromosome 17p13." + }, + { + "input": "leber congenital amaurosis 7", + "output": "A leber congenital amaurosis that has_material_basis_in mutation in the crx gene on chromosome 19q13." + }, + { + "input": "osteogenesis imperfecta type 1", + "output": "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the col1a1 gene on chromosome 17q21.33 or the col1a2 gene on chromosome 7q21.3." + }, + { + "input": "osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures", + "output": "An osteogenesis imperfecta found in a single south african family." + }, + { + "input": "osteogenesis imperfecta type 8", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the p3h1 gene on chromosome 1p34.2." + }, + { + "input": "osteogenesis imperfecta type 7", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the crtap gene on chromosome 3p22." + }, + { + "input": "osteogenesis imperfecta type 17", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the sparc gene on chromosome 5q33." + }, + { + "input": "osteogenesis imperfecta type 3", + "output": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the col1a1 gene on chromosome 17q21.33 or the col1a2 gene on chromosome 7q21.3." + }, + { + "input": "osteogenesis imperfecta type 4", + "output": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the col1a1 gene on chromosome 17q21.33 or the col1a2 gene on chromosome 7q21.3." + }, + { + "input": "osteogenesis imperfecta type 2", + "output": "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the col1a1 gene on chromosome 17q21.33 or the col1a2 gene on chromosome 7q21.3." + }, + { + "input": "osteogenesis imperfecta type 13", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the bmp1 gene on chromosome 8p21." + }, + { + "input": "osteogenesis imperfecta type 14", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the tmem38b gene on chromosome 9q31." + }, + { + "input": "osteogenesis imperfecta type 5", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the ifitm5 gene on chromosome 11p15." + }, + { + "input": "osteogenesis imperfecta type 16", + "output": "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11." + }, + { + "input": "osteogenesis imperfecta type 10", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the serpinh gene on chromosome 11q13." + }, + { + "input": "osteogenesis imperfecta type 15", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the wnt1 gene on chromosome 12q13." + }, + { + "input": "osteogenesis imperfecta type 12", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the sp7 gene on chromosome 12q13." + }, + { + "input": "osteogenesis imperfecta type 9", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the ppib gene on chromosome 15q22." + }, + { + "input": "osteogenesis imperfecta type 6", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the serpinf1 gene on chromosome 17p13.3." + }, + { + "input": "osteogenesis imperfecta type 11", + "output": "An osteogenesis imperfecta that has_material_basis_in mutation in the fkbp10 gene on chromosome 17q21." + }, + { + "input": "retinitis pigmentosa 59", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the dhdds gene on chromosome 1p36.11." + }, + { + "input": "retinitis pigmentosa 20", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the rpe65 gene on chromosome 1p31." + }, + { + "input": "retinitis pigmentosa 19", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the abca4 gene on chromosome 1p22." + }, + { + "input": "retinitis pigmentosa 32", + "output": "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3." + }, + { + "input": "retinitis pigmentosa 18", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the prpf3 gene on chromosome 1q21." + }, + { + "input": "retinitis pigmentosa 35", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the sema4a gene on chromosome 1q22." + }, + { + "input": "retinitis pigmentosa 12", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the crb1 gene on chromosome 1q31.3." + }, + { + "input": "retinitis pigmentosa 67", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the nek2 gene on chromosome 1q32." + }, + { + "input": "retinitis pigmentosa 39", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the ush2a gene on chromosome 1q41." + }, + { + "input": "retinitis pigmentosa 75", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the agbl5 gene on chromosome 2p23." + }, + { + "input": "retinitis pigmentosa 58", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the znf513 gene on chromosome 2p23." + }, + { + "input": "retinitis pigmentosa 71", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the ift172 gene on chromosome 2p23." + }, + { + "input": "retinitis pigmentosa 54", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the c2orf71 gene on chromosome 2p23." + }, + { + "input": "retinitis pigmentosa 28", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the fam161a gene on chromosome 2p15." + }, + { + "input": "retinitis pigmentosa 33", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the snrnp200 gene on chromosome 2q11." + }, + { + "input": "retinitis pigmentosa 38", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the mertk gene on chromosome 2q13." + }, + { + "input": "retinitis pigmentosa 26", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the cerkl gene on chromosome 2q31." + }, + { + "input": "retinitis pigmentosa 47", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the sag gene on chromosome 2q37." + }, + { + "input": "retinitis pigmentosa 55", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the arl6 gene on chromosome 3q11.2." + }, + { + "input": "retinitis pigmentosa 56", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the impg2 gene on chromosome 3q12.3." + }, + { + "input": "retinitis pigmentosa 4", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the rho gene on chromosome 3q22." + }, + { + "input": "retinitis pigmentosa 61", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the clrn1 gene on chromosome 3q25." + }, + { + "input": "retinitis pigmentosa 68", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the slc7a14 gene on chromosome 3q26." + }, + { + "input": "retinitis pigmentosa 40", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the pde6b gene on chromosome 4p16." + }, + { + "input": "retinitis pigmentosa 41", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the prom1 gene on chromosome 4p15." + }, + { + "input": "retinitis pigmentosa 49", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the cnga1 gene on chromosome 4p12." + }, + { + "input": "retinitis pigmentosa 29", + "output": "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34." + }, + { + "input": "retinitis pigmentosa 43", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the pde6a gene on chromosome 5q31-q33." + }, + { + "input": "retinitis pigmentosa 62", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the mak gene on chromosome 6p24.2." + }, + { + "input": "retinitis pigmentosa 14", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the tulp1 gene on chromosome 6p21." + }, + { + "input": "retinitis pigmentosa 48", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the guca1b gene on chromosome 6p21.1." + }, + { + "input": "retinitis pigmentosa 7", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the prph2 gene on chromosome 6p21." + }, + { + "input": "retinitis pigmentosa 25", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the eys gene on chromosome 6q12." + }, + { + "input": "retinitis pigmentosa 63", + "output": "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23." + }, + { + "input": "retinitis pigmentosa 42", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the klhl7 gene on chromosome 7p15.3." + }, + { + "input": "retinitis pigmentosa 9", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the rp9 gene on chromosome 7p14." + }, + { + "input": "retinitis pigmentosa 10", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the impdh1 gene on chromosome 7q32." + }, + { + "input": "retinitis pigmentosa 73", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the hgsnat gene on chromosome 8p11." + }, + { + "input": "retinitis pigmentosa 1", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the rp1 gene on chromosome 8q12." + }, + { + "input": "retinitis pigmentosa 31", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the topors gene on chromosome 9p21." + }, + { + "input": "retinitis pigmentosa 70", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the prpf4 gene on chromosome 9q32." + }, + { + "input": "retinitis pigmentosa 66", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the rbp3 gene on chromosome 10q11." + }, + { + "input": "retinitis pigmentosa 44", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the rgr gene on chromosome 10q23." + }, + { + "input": "retinitis pigmentosa 72", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the znf408 gene on chromosome 11p11." + }, + { + "input": "retinitis pigmentosa 50", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the best1 gene on chromosome 11q13." + }, + { + "input": "retinitis pigmentosa 27", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the nrl gene on chromosome 14q11." + }, + { + "input": "retinitis pigmentosa 51", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the ttc8 gene on chromosome 14q31." + }, + { + "input": "retinitis pigmentosa 37", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the nr2e3 gene on chromosome 15q23." + }, + { + "input": "retinitis pigmentosa 22", + "output": "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1." + }, + { + "input": "retinitis pigmentosa 74", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the bbs2 gene on chromosome 16q13." + }, + { + "input": "retinitis pigmentosa 45", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the cngb1 gene on chromosome 16q13." + }, + { + "input": "retinitis pigmentosa 13", + "output": "A retinitis pigmentosa that has_material_basis_in mutations in the prpf8 gene on chromosome 17p13.3." + }, + { + "input": "retinitis pigmentosa 17", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the ca4 gene on chromosome 17q23.1." + }, + { + "input": "retinitis pigmentosa 36", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the prcd gene on chromosome 17q25." + }, + { + "input": "retinitis pigmentosa 30", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the fscn2 gene on chromosome 17q25." + }, + { + "input": "retinitis pigmentosa 57", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the pde6g gene on chromosome 17q25.3." + }, + { + "input": "retinitis pigmentosa 11", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the prpf31 gene on chromosome 19q13." + }, + { + "input": "retinitis pigmentosa 46", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the idh3b gene on chromosome 20p13." + }, + { + "input": "retinitis pigmentosa 69", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the kiz gene on chromosome 20p11." + }, + { + "input": "retinitis pigmentosa 60", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the prpf6 gene on chromosome 20q13.33." + }, + { + "input": "retinitis pigmentosa 23", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the ofd1 gene on chromosome xp22." + }, + { + "input": "retinitis pigmentosa 6", + "output": "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region xp21.3-p21.2." + }, + { + "input": "retinitis pigmentosa 3", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the rpgr gene on chromosome xp11." + }, + { + "input": "retinitis pigmentosa 2", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the rp2 gene on chromosome xp11.3." + }, + { + "input": "retinitis pigmentosa 24", + "output": "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region xq26-q27." + }, + { + "input": "retinitis pigmentosa 34", + "output": "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region xq28." + }, + { + "input": "retinitis pigmentosa y-linked", + "output": "A retinitis pigmentosa that has_material_basis_in variation on the y chromosome." + }, + { + "input": "retinitis pigmentosa with or without situs inversus", + "output": "A retinitis pigmentosa that has_material_basis_in mutation in the arl2bp gene on chromosome 16q13." + }, + { + "input": "dominant pericentral pigmentary retinopathy", + "output": "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." + }, + { + "input": "late-adult onset retinitis pigmentosa", + "output": "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." + }, + { + "input": "autosomal recessive pericentral pigmentary retinopathy", + "output": "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." + }, + { + "input": "dilated cardiomyopathy 1c", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the ldb3 gene on chromosome 10q23.2." + }, + { + "input": "dilated cardiomyopathy 1cc", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the nexn gene on chromosome 1p31.1." + }, + { + "input": "dilated cardiomyopathy 1a", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the lmna gene on chromosome 1q21." + }, + { + "input": "dilated cardiomyopathy 1d", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the tnnt2 gene on chromosome 1q32." + }, + { + "input": "dilated cardiomyopathy 1v", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the psen2 gene on chromosome 1q31-q42." + }, + { + "input": "dilated cardiomyopathy 1aa", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the actn2 gene on chromosome 1q43." + }, + { + "input": "dilated cardiomyopathy 1h", + "output": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22." + }, + { + "input": "dilated cardiomyopathy 1g", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the ttn gene on chromosome 2q31." + }, + { + "input": "dilated cardiomyopathy 1i", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the des gene on chromosome 2q35." + }, + { + "input": "dilated cardiomyopathy 1nn", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the raf1 gene on chromosome 3p25." + }, + { + "input": "dilated cardiomyopathy 1e", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the scn5a gene on chromosome 3p22.2." + }, + { + "input": "dilated cardiomyopathy 1z", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the tnnc1 gene on chromosome 3p." + }, + { + "input": "dilated cardiomyopathy 1gg", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the sdha gene on chromosome 5p15.33." + }, + { + "input": "dilated cardiomyopathy 1l", + "output": "A dilated cardiomyopathy that has_material_basis_in mutations in the sgcd gene on chromosome 5q33.2-q33.3." + }, + { + "input": "dilated cardiomyopathy 1k", + "output": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16." + }, + { + "input": "dilated cardiomyopathy 1jj", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the lama4 gene on chromosome 6q21." + }, + { + "input": "dilated cardiomyopathy 1p", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the pln gene on chromosome 6q22." + }, + { + "input": "dilated cardiomyopathy 1j", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the eya4 gene on chromosome 6q23.2." + }, + { + "input": "dilated cardiomyopathy 2b", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the gatad1 gene on chromosome 7q21." + }, + { + "input": "dilated cardiomyopathy 1q", + "output": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1." + }, + { + "input": "dilated cardiomyopathy 1b", + "output": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13." + }, + { + "input": "dilated cardiomyopathy 1x", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the fktn gene on chromosome 9q31." + }, + { + "input": "dilated cardiomyopathy 1kk", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the mypn gene on chromosome 10q21." + }, + { + "input": "dilated cardiomyopathy 1w", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the vcl gene on chromosome 10q22.2." + }, + { + "input": "dilated cardiomyopathy 1dd", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the rbm20 gene on chromosome 10q25." + }, + { + "input": "dilated cardiomyopathy 1hh", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the bag3 gene on chromosome 10q26.11." + }, + { + "input": "dilated cardiomyopathy 1m", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the csrp3 gene on chromosome 11p15." + }, + { + "input": "dilated cardiomyopathy 1ii", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the cryab gene on chromosome 11q23." + }, + { + "input": "dilated cardiomyopathy 1o", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the abcc9 gene on chromosome 12p12.1." + }, + { + "input": "dilated cardiomyopathy 1t", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the tmpo gene on chromosome 12q22." + }, + { + "input": "dilated cardiomyopathy 1ee", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the myh6 gene on chromosome 14q11.2." + }, + { + "input": "dilated cardiomyopathy 1s", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the myh7 gene on chromosome 14q12." + }, + { + "input": "dilated cardiomyopathy 1u", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the psen1 gene on chromosome 14q24.3." + }, + { + "input": "dilated cardiomyopathy 1r", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the actc1 gene on chromosome 15q14." + }, + { + "input": "dilated cardiomyopathy 1y", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the tpm1 gene on chromosome 15q22.1." + }, + { + "input": "dilated cardiomyopathy 1bb", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation the dsg2 gene on chromosome 18q12.1." + }, + { + "input": "dilated cardiomyopathy 1ff", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the tnni3 gene on chromosome 19q13.42." + }, + { + "input": "dilated cardiomyopathy 2a", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the tnni3 gene on chromosome 19q13." + }, + { + "input": "x-linked dilated cardiomyopathy", + "output": "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (dmd) on chromosome xp21, without skeletal muscle weakness or wasting." + }, + { + "input": "autosomal recessive nonsyndromic deafness 101", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the grxcr2 gene on chromosome 5q32." + }, + { + "input": "autosomal recessive nonsyndromic deafness 102", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the eps8 gene on chromosome 12p12." + }, + { + "input": "autosomal recessive nonsyndromic deafness 103", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the clic5 gene on chromosome 6p21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 104", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the fam65b gene on chromosome 6p22." + }, + { + "input": "autosomal recessive nonsyndromic deafness 12", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the cdh23 gene on chromosome 10q22." + }, + { + "input": "autosomal recessive nonsyndromic deafness 13", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36." + }, + { + "input": "autosomal recessive nonsyndromic deafness 14", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between d7s554 and d7s2459 in the chromosome region 7q31." + }, + { + "input": "autosomal recessive nonsyndromic deafness 15", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the gipc3 gene on chromosome 19p13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 16", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the strc gene on chromosome 15q15." + }, + { + "input": "autosomal recessive nonsyndromic deafness 17", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between d7s2453 and d7s525 in the chromosome region 7q31." + }, + { + "input": "autosomal recessive nonsyndromic deafness 18a", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the ush1c gene on chromosome 11p15." + }, + { + "input": "autosomal recessive nonsyndromic deafness 18b", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the otog gene on chromosome 11p15." + }, + { + "input": "autosomal recessive nonsyndromic deafness 1a", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the gjb2 gene on chromosome 13q12." + }, + { + "input": "autosomal recessive nonsyndromic deafness 1b", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the gjb6 gene on chromosome 13q12." + }, + { + "input": "autosomal recessive nonsyndromic deafness 2", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the myo7a gene on chromosome 11q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 20", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter." + }, + { + "input": "autosomal recessive nonsyndromic deafness 21", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the tecta gene on chromosome 11q23.3." + }, + { + "input": "autosomal recessive nonsyndromic deafness 22", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the otoa gene on chromosome 16p12." + }, + { + "input": "autosomal recessive nonsyndromic deafness 23", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the pcdh15 gene on chromosome 10q21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 24", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the rdx gene on chromosome 11q22." + }, + { + "input": "autosomal recessive nonsyndromic deafness 25", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the grxcr1 gene on chromosome 4p13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 26", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31." + }, + { + "input": "autosomal recessive nonsyndromic deafness 27", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31." + }, + { + "input": "autosomal recessive nonsyndromic deafness 28", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the triobp gene on chromosome 22q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 29", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the cldn14 gene on chromosome 21q22." + }, + { + "input": "autosomal recessive nonsyndromic deafness 3", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the myo15a gene on chromosome 17p11." + }, + { + "input": "autosomal recessive nonsyndromic deafness 30", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the myo3a gene on chromosome 10p12.1." + }, + { + "input": "autosomal recessive nonsyndromic deafness 31", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the whrn gene on chromosome 9q32." + }, + { + "input": "autosomal recessive nonsyndromic deafness 32", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the cdc14a gene on chromosome 1p21.2." + }, + { + "input": "autosomal recessive nonsyndromic deafness 33", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1." + }, + { + "input": "autosomal recessive nonsyndromic deafness 35", + "output": "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the esrrb gene on chromosome 14q24." + }, + { + "input": "autosomal recessive nonsyndromic deafness 36", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the espn gene on chromosome 1p36." + }, + { + "input": "autosomal recessive nonsyndromic deafness 37", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the myo6 gene on chromosome 6q14." + }, + { + "input": "autosomal recessive nonsyndromic deafness 38", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27." + }, + { + "input": "autosomal recessive nonsyndromic deafness 39", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the hgf gene on chromosome 7q21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 4", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the slc26a4 gene on chromosome 7q22." + }, + { + "input": "autosomal recessive nonsyndromic deafness 40", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1." + }, + { + "input": "autosomal recessive nonsyndromic deafness 42", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ildr1 gene on chromosome 3q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 44", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the adcy1 gene on chromosome 7p12." + }, + { + "input": "autosomal recessive nonsyndromic deafness 45", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44." + }, + { + "input": "autosomal recessive nonsyndromic deafness 46", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31." + }, + { + "input": "autosomal recessive nonsyndromic deafness 47", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3." + }, + { + "input": "autosomal recessive nonsyndromic deafness 48", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the cib2 gene on chromosome 15q25." + }, + { + "input": "autosomal recessive nonsyndromic deafness 49", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the marveld2 gene on chromosome 5q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 5", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12." + }, + { + "input": "autosomal recessive nonsyndromic deafness 51", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12." + }, + { + "input": "autosomal recessive nonsyndromic deafness 53", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the col11a2 gene on chromosome 6p21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 55", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2." + }, + { + "input": "autosomal recessive nonsyndromic deafness 59", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the dfnb59 gene on chromosome 2q31." + }, + { + "input": "autosomal recessive nonsyndromic deafness 6", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the tmie gene on chromosome 3p21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 61", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the slc26a5 gene on chromosome 7q22." + }, + { + "input": "autosomal recessive nonsyndromic deafness 62", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23." + }, + { + "input": "autosomal recessive nonsyndromic deafness 63", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the lrtomt gene on chromosome 11q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 65", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3." + }, + { + "input": "autosomal recessive nonsyndromic deafness 66", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the dcdc2 gene on chromosome 6p22." + }, + { + "input": "autosomal recessive nonsyndromic deafness 67", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the lhfpl5 gene on chromosome 6p21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 68", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the s1pr2 gene on chromosome 19p13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 7", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the tmc1 gene on chromosome 9q21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 70", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the pnpt1 gene on chromosome 2p16." + }, + { + "input": "autosomal recessive nonsyndromic deafness 71", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3." + }, + { + "input": "autosomal recessive nonsyndromic deafness 74", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the msrb3 gene on chromosome 12q14." + }, + { + "input": "autosomal recessive nonsyndromic deafness 76", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the syne4 gene on chromosome 19q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 77", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the loxhd1 gene on chromosome 18q21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 79", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the tprn gene on chromosome 9q34." + }, + { + "input": "autosomal recessive nonsyndromic deafness 8", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the tmprss3 gene on chromosome 21q22." + }, + { + "input": "autosomal recessive nonsyndromic deafness 83", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2." + }, + { + "input": "autosomal recessive nonsyndromic deafness 84a", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the ptprq gene on chromosome 12q21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 84b", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the otogl gene on chromosome 12q21." + }, + { + "input": "autosomal recessive nonsyndromic deafness 85", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2." + }, + { + "input": "autosomal recessive nonsyndromic deafness 86", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the tbc1d24 gene on chromosome 16p13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 88", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the elmod3 gene on chromosome 2p11." + }, + { + "input": "autosomal recessive nonsyndromic deafness 89", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the kars gene on chromosome 16q23." + }, + { + "input": "autosomal recessive nonsyndromic deafness 9", + "output": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the otof gene on chromosome 2p23." + }, + { + "input": "autosomal recessive nonsyndromic deafness 91", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the serpinb6 gene on chromosome 6p25." + }, + { + "input": "autosomal recessive nonsyndromic deafness 93", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the cabp2 gene on chromosome 11q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 96", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 97", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the met gene on chromosome 7q31." + }, + { + "input": "autosomal recessive nonsyndromic deafness 98", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the tspear gene on chromosome 21q22." + }, + { + "input": "autosomal dominant nonsyndromic deafness 1", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the diaph1 gene on chromosome 5q31." + }, + { + "input": "autosomal dominant nonsyndromic deafness 10", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the eya4 gene on chromosome 6q23." + }, + { + "input": "autosomal dominant nonsyndromic deafness 11", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the myo7a gene on chromosome 11q13." + }, + { + "input": "autosomal dominant nonsyndromic deafness 12", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the tecta gene on chromosome 11q23." + }, + { + "input": "autosomal dominant nonsyndromic deafness 13", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the col11a2 gene on chromosome 6p21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 15", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the pou4f3 gene on chromosome 5q32." + }, + { + "input": "autosomal dominant nonsyndromic deafness 16", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3." + }, + { + "input": "autosomal dominant nonsyndromic deafness 17", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the myh9 gene on chromosome 22q12." + }, + { + "input": "autosomal dominant nonsyndromic deafness 18", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22." + }, + { + "input": "autosomal dominant nonsyndromic deafness 20", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the actg1 gene on chromosome 17q25." + }, + { + "input": "autosomal dominant nonsyndromic deafness 21", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3." + }, + { + "input": "autosomal dominant nonsyndromic deafness 22", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the myo6 gene on chromosome 6q14." + }, + { + "input": "autosomal dominant nonsyndromic deafness 23", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the six1 gene on chromosome 14q23." + }, + { + "input": "autosomal dominant nonsyndromic deafness 24", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter." + }, + { + "input": "autosomal dominant nonsyndromic deafness 25", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the slc17a8 gene on chromosome 12q23." + }, + { + "input": "autosomal dominant nonsyndromic deafness 27", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1." + }, + { + "input": "autosomal dominant nonsyndromic deafness 28", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the grhl2 gene on chromosome 8q22." + }, + { + "input": "autosomal dominant nonsyndromic deafness 2a", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the kcnq4 gene on chromosome 1p34.2." + }, + { + "input": "autosomal dominant nonsyndromic deafness 2b", + "output": "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the gjb3 gene on chromosome 1p34.3." + }, + { + "input": "autosomal dominant nonsyndromic deafness 30", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26." + }, + { + "input": "autosomal dominant nonsyndromic deafness 31", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3." + }, + { + "input": "autosomal dominant nonsyndromic deafness 33", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34." + }, + { + "input": "autosomal dominant nonsyndromic deafness 36", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the tmc1 gene on chromosome 9q21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 3a", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the gjb2 gene on chromosome 13q12." + }, + { + "input": "autosomal dominant nonsyndromic deafness 3b", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the gjb6 gene on chromosome 13q12." + }, + { + "input": "autosomal dominant nonsyndromic deafness 40", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the crym gene on chromosome 16p12." + }, + { + "input": "autosomal dominant nonsyndromic deafness 41", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor p2x 2 gene (p2rx2) on chromosome 12q24." + }, + { + "input": "autosomal dominant nonsyndromic deafness 43", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12." + }, + { + "input": "autosomal dominant nonsyndromic deafness 44", + "output": "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the ccdc50 gene on chromosome 3q28." + }, + { + "input": "autosomal dominant nonsyndromic deafness 47", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 48", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14." + }, + { + "input": "autosomal dominant nonsyndromic deafness 49", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23." + }, + { + "input": "autosomal dominant nonsyndromic deafness 4a", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the myh14 gene on chromosome 19q13.33." + }, + { + "input": "autosomal dominant nonsyndromic deafness 4b", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the ceacam16 gene on chromosome 19q13." + }, + { + "input": "autosomal dominant nonsyndromic deafness 5", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin e (gsdme) gene on chromosome 7p15." + }, + { + "input": "autosomal dominant nonsyndromic deafness 50", + "output": "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the mirn96 gene on chromosome 7q32." + }, + { + "input": "autosomal dominant nonsyndromic deafness 51", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the tjp2 and fam189a2 genes." + }, + { + "input": "autosomal dominant nonsyndromic deafness 52", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32." + }, + { + "input": "autosomal dominant nonsyndromic deafness 53", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12." + }, + { + "input": "autosomal dominant nonsyndromic deafness 54", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31." + }, + { + "input": "autosomal dominant nonsyndromic deafness 56", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the tnc gene on chromosome 9q33." + }, + { + "input": "autosomal dominant nonsyndromic deafness 58", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12." + }, + { + "input": "autosomal dominant nonsyndromic deafness 59", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3." + }, + { + "input": "autosomal dominant nonsyndromic deafness 6", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the wfs1 gene on chromosome 4p16." + }, + { + "input": "autosomal dominant nonsyndromic deafness 64", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the diablo gene on chromosome 12q24." + }, + { + "input": "autosomal dominant nonsyndromic deafness 65", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the tbc1d24 gene on chromosome 16p13." + }, + { + "input": "autosomal dominant nonsyndromic deafness 66", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the cd164 gene on chromosome 6q21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 67", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the osbpl2 gene on chromosome 20q13." + }, + { + "input": "autosomal dominant nonsyndromic deafness 68", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the homer2 gene on chromosome 15q25." + }, + { + "input": "autosomal dominant nonsyndromic deafness 69", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the kitlg gene on chromosome 12q21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 7", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23." + }, + { + "input": "autosomal dominant nonsyndromic deafness 70", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the mcm2 gene on chromosome 3q21." + }, + { + "input": "autosomal dominant nonsyndromic deafness 9", + "output": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the coch gene on chromosome 14q12." + }, + { + "input": "primary ciliary dyskinesia 1", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the dnai1 gene on chromosome 9p13." + }, + { + "input": "stromme syndrome", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the cenpf gene on chromosome 1q41." + }, + { + "input": "primary ciliary dyskinesia 21", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the drc1 gene on chromosome 2p23." + }, + { + "input": "primary ciliary dyskinesia 22", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the zmynd10 gene on chromosome 3p21." + }, + { + "input": "primary ciliary dyskinesia 14", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the ccdc39 gene on chromosome 3q26." + }, + { + "input": "primary ciliary dyskinesia 3", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the dnah5 gene on chromosome 5p15." + }, + { + "input": "primary ciliary dyskinesia 29", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the ccno gene on chromosome 5p15." + }, + { + "input": "primary ciliary dyskinesia 12", + "output": "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the rsph9 gene on chromosome 6p21." + }, + { + "input": "primary ciliary dyskinesia 11", + "output": "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the rsph4a gene on chromosome 6q22." + }, + { + "input": "primary ciliary dyskinesia 32", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the rsph3 gene on chromosome 6q25." + }, + { + "input": "primary ciliary dyskinesia 18", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the heatr2 gene on chromosome 7p22." + }, + { + "input": "primary ciliary dyskinesia 7", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the dnah11 gene on chromosome 7p21." + }, + { + "input": "primary ciliary dyskinesia 6", + "output": "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the txndc3 gene on the chromosome 7p14.1." + }, + { + "input": "primary ciliary dyskinesia 28", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the spag1 gene on chromosome 8q22." + }, + { + "input": "primary ciliary dyskinesia 19", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the lrrc6 gene on chromosome 8q24." + }, + { + "input": "primary ciliary dyskinesia 23", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the armc4 gene on chromosome 10p." + }, + { + "input": "primary ciliary dyskinesia 34", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the dnajb13 gene on chromosome 11q13." + }, + { + "input": "primary ciliary dyskinesia 27", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the ccdc65 gene on chromosome 12q13." + }, + { + "input": "primary ciliary dyskinesia 10", + "output": "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the ktu gene on chromosome 14q21." + }, + { + "input": "primary ciliary dyskinesia 16", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the dnal1 gene on chromosome 14q24.3." + }, + { + "input": "primary ciliary dyskinesia 4", + "output": "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1." + }, + { + "input": "primary ciliary dyskinesia 25", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the dyx1c1 gene on chromosome 15q21." + }, + { + "input": "primary ciliary dyskinesia 8", + "output": "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25." + }, + { + "input": "primary ciliary dyskinesia 5", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the hydin gene on chromosome 16q22." + }, + { + "input": "primary ciliary dyskinesia 13", + "output": "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the lrrc50 gene on chromosome 16q23-q24." + }, + { + "input": "primary ciliary dyskinesia 33", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the gas8 gene on chromosome 16q24." + }, + { + "input": "primary ciliary dyskinesia 35", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the ttc25 gene on chromosome 17q21." + }, + { + "input": "primary ciliary dyskinesia 17", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the ccdc103 gene on chromosome 17q21." + }, + { + "input": "primary ciliary dyskinesia 9", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the dnai2 gene on chromosome 17q25." + }, + { + "input": "primary ciliary dyskinesia 15", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the ccdc40 gene on chromosome 17q25." + }, + { + "input": "primary ciliary dyskinesia 30", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the ccdc151 gene on chromosome 19p13." + }, + { + "input": "primary ciliary dyskinesia 20", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the ccdc114 gene on chromosome 19q13." + }, + { + "input": "primary ciliary dyskinesia 2", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the dnaaf3 gene on chromosome 19q13." + }, + { + "input": "primary ciliary dyskinesia 26", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the c21orf59 gene on chromosome 21q22." + }, + { + "input": "primary ciliary dyskinesia 24", + "output": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the rsph1 gene on chromosome 21q22." + }, + { + "input": "wolfram syndrome 1", + "output": "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the wfs1 gene on chromosome 4p16.1." + }, + { + "input": "wolfram syndrome 2", + "output": "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. it has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the cisd2 gene on chromosome 4q24." + }, + { + "input": "megaconial type congenital muscular dystrophy", + "output": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the chkb gene on chromosome 22q13." + }, + { + "input": "rigid spine muscular dystrophy 1", + "output": "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the sepn1 gene on chromosome 1p36." + }, + { + "input": "congenital muscular dystrophy 1b", + "output": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b5", + "output": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the fkrp gene on chromosome 19q13.3." + }, + { + "input": "congenital merosin-deficient muscular dystrophy 1a", + "output": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the lama2 gene on chromosome 6q22." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b6", + "output": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the large gene on chromosome 22q12." + }, + { + "input": "congenital muscular dystrophy due to integrin alpha-7 deficiency", + "output": "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the itga7 gene on chromosome 12q13." + }, + { + "input": "congenital muscular dystrophy due to lmna mutation", + "output": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the lmna gene on chromosome 1q22." + }, + { + "input": "long qt syndrome 1", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the kcnq1 gene on chromosome 11p15.5-p15.4." + }, + { + "input": "long qt syndrome 2", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the kcnh2 gene on chromosome 7q36.1." + }, + { + "input": "long qt syndrome 3", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the scn5a gene on chromosome 3p22.2." + }, + { + "input": "long qt syndrome 5", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the kcne1 gene on chromosome 21q22.12." + }, + { + "input": "long qt syndrome 6", + "output": "A long qt interval syndrome that has_material_basis_in dominant inheritance of mutation in the kcne2 gene on chromosome 21q22.11." + }, + { + "input": "long qt syndrome 9", + "output": "A long qt syndrome that has_material_basis_in mutation of the cav3 gene on chromosome 3p25.3." + }, + { + "input": "long qt syndrome 10", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the scn4b gene on chromosome 11q23.3." + }, + { + "input": "long qt syndrome 11", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the akap9 gene on chromosome 7q21.2." + }, + { + "input": "long qt syndrome 12", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the snta1 gene on chromosome 20q11.21." + }, + { + "input": "long qt syndrome 13", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the kcnj5 gene on chromosome 11q24.3." + }, + { + "input": "long qt syndrome 14", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the calm1 gene on chromosome 14q32.11." + }, + { + "input": "long qt syndrome 15", + "output": "A long qt syndrome that has_material_basis_in dominant inheritance of mutation in the calm2 gene on chromosome 2p21." + }, + { + "input": "congenital myasthenic syndrome 8", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the agrn gene on chromosome 1p." + }, + { + "input": "congenital myasthenic syndrome 15", + "output": "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the alg14 gene on chromosome 1p21." + }, + { + "input": "congenital myasthenic syndrome 7", + "output": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the syt2 gene on chromosome 1q32." + }, + { + "input": "congenital myasthenic syndrome 12", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the gfpt1 gene on chromosome 2p13." + }, + { + "input": "congenital myasthenic syndrome 20", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the slc5a7 gene on chromosome 2q12." + }, + { + "input": "congenital myasthenic syndrome 1b", + "output": "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the chrna1 gene on chromosome 2q." + }, + { + "input": "congenital myasthenic syndrome 1a", + "output": "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the chrna1 gene on chromosome 2q." + }, + { + "input": "congenital myasthenic syndrome 3c", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the chrnd gene on chromosome 2q37." + }, + { + "input": "congenital myasthenic syndrome 3b", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the chrnd gene on chromosome 2q37." + }, + { + "input": "congenital myasthenic syndrome 3a", + "output": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the chrnd gene on chromosome 2q37." + }, + { + "input": "congenital myasthenic syndrome 5", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the colq gene on chromosome 3p25." + }, + { + "input": "congenital myasthenic syndrome 10", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the nmj and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the dok7 gene on chromosome 4p16.3." + }, + { + "input": "congenital myasthenic syndrome 14", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the alg2 gene on chromosome 9q22." + }, + { + "input": "congenital myasthenic syndrome 9", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the musk gene on chromosome 9q31." + }, + { + "input": "congenital myasthenic syndrome 6", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the chat gene on chromosome 10q." + }, + { + "input": "congenital myasthenic syndrome 21", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the slc18a3 gene on chromosome 10q11." + }, + { + "input": "congenital myasthenic syndrome 19", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the col13a1 gene on chromosome 10q22." + }, + { + "input": "congenital myasthenic syndrome 17", + "output": "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the lrp4 gene on chromosome 11p11." + }, + { + "input": "congenital myasthenic syndrome 11", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of acetylcholine receptor (achr) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the rapsn gene on chromosome 11p11." + }, + { + "input": "congenital myasthenic syndrome 13", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in emg studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the dpagt1 gene on chromosome 11q23." + }, + { + "input": "congenital myasthenic syndrome 4b", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the achr channel that has_material_basis_in homozygous or compound heterozygous mutation in the chrne gene on chromosome 17p13." + }, + { + "input": "congenital myasthenic syndrome 4a", + "output": "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the chrne gene on chromosome 17p13." + }, + { + "input": "congenital myasthenic syndrome 4c", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the chrne gene on chromosome 17p13." + }, + { + "input": "congenital myasthenic syndrome 2c", + "output": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the chrnb1 gene on chromosome 17p13." + }, + { + "input": "congenital myasthenic syndrome 2a", + "output": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the chrnb1 gene on chromosome 17p13." + }, + { + "input": "congenital myasthenic syndrome 16", + "output": "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the scn4a gene on chromosome 17q23." + }, + { + "input": "congenital myasthenic syndrome 18", + "output": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the snap25 gene on chromosome 20p11." + }, + { + "input": "hypotrichosis 1", + "output": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the apcdd1 gene on chromosome 18p11.22." + }, + { + "input": "hypotrichosis 2", + "output": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the cdsn gene on chromosome 6p21.33." + }, + { + "input": "hypotrichosis 3", + "output": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the krt74 gene on chromosome 12q13.13." + }, + { + "input": "hypotrichosis 4", + "output": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of hr on chromosome 8p21.3." + }, + { + "input": "hypotrichosis 5", + "output": "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3." + }, + { + "input": "hypotrichosis 6", + "output": "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the dsg4 gene on chromosome 18q12.1." + }, + { + "input": "hypotrichosis 7", + "output": "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the liph gene on chromosome 3q27.2." + }, + { + "input": "hypotrichosis 8", + "output": "A hypotrichosis has_material_basis_in a autosomal recessive mutation of the lpar6 gene on chromosome 13q14.2." + }, + { + "input": "hypotrichosis 9", + "output": "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3." + }, + { + "input": "hypotrichosis 10", + "output": "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3." + }, + { + "input": "hypotrichosis 11", + "output": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the snrpe gene on chromosome 1q32.1." + }, + { + "input": "hypotrichosis 12", + "output": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the rpl21 gene on chromosome 13q12.2." + }, + { + "input": "hypotrichosis 13", + "output": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the krt71 gene on chromosome 12q13.13." + }, + { + "input": "congenital hypotrichosis with juvenile macular dystrophy", + "output": "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the cdh3 gene on chromosome 16q22.1." + }, + { + "input": "oguchi disease-1", + "output": "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the sag gene on chromosome 2q37." + }, + { + "input": "oguchi disease-2", + "output": "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the grk1 gene on chromosome 13q34." + }, + { + "input": "congenital stationary night blindness 1g", + "output": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the gnat1 gene on chromosome 3p21." + }, + { + "input": "congenital stationary night blindness autosomal dominant 3", + "output": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the gnat1 gene on chromosome 3p21." + }, + { + "input": "warburg micro syndrome 1", + "output": "A warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the rab3gap1 gene on chromosome 2q21." + }, + { + "input": "warburg micro syndrome 2", + "output": "A warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the rab3gap2 gene on chromosome 1q41." + }, + { + "input": "warburg micro syndrome 3", + "output": "A warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the rab18 gene on chromosome 10p12." + }, + { + "input": "warburg micro syndrome 4", + "output": "A warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the tbc1d20 gene on chromosome 20p13." + }, + { + "input": "neuronal ceroid lipofuscinosis 4", + "output": "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the dnajc5 gene (611203) on chromosome 20q13." + }, + { + "input": "neuronal ceroid lipofuscinosis 1", + "output": "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the ppt1 gene on chromosome 1p34." + }, + { + "input": "neuronal ceroid lipofuscinosis 7", + "output": "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the mfsd8 gene on chromosome 4q28." + }, + { + "input": "neuronal ceroid lipofuscinosis 8", + "output": "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the cln8 gene on chromosome 8p23." + }, + { + "input": "neuronal ceroid lipofuscinosis 8 northern epilepsy variant", + "output": "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a finnish founder mutation in the cln8 gene on chromosome 8p23." + }, + { + "input": "neuronal ceroid lipofuscinosis 10", + "output": "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the ctsd gene on chromosome 11p15." + }, + { + "input": "neuronal ceroid lipofuscinosis 2", + "output": "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the tpp1 gene on chromosome 11p15." + }, + { + "input": "neuronal ceroid lipofuscinosis 13", + "output": "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the ctsf gene on chromosome 11q13." + }, + { + "input": "neuronal ceroid lipofuscinosis 5", + "output": "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the cln5 gene on chromosome 13q22." + }, + { + "input": "neuronal ceroid lipofuscinosis 6a", + "output": "A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the cln6 gene on chromosome 15q21-q23." + }, + { + "input": "neuronal ceroid lipofuscinosis 6b", + "output": "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the cln6 gene on chromosome 15q23." + }, + { + "input": "neuronal ceroid lipofuscinosis 3", + "output": "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the cln3 gene on chromosome 16p11." + }, + { + "input": "neuronal ceroid lipofuscinosis 11", + "output": "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the grn gene on chromosome 17q." + }, + { + "input": "neuronal ceroid lipofuscinosis 9", + "output": "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures." + }, + { + "input": "neurodegeneration with brain iron accumulation", + "output": "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia." + }, + { + "input": "neurodegeneration with brain iron accumulation 2a", + "output": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the pla2g6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life." + }, + { + "input": "neurodegeneration with brain iron accumulation 2b", + "output": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the pla2g6 gene on chromosome 22q13.1." + }, + { + "input": "neurodegeneration with brain iron accumulation 3", + "output": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the ftl gene on chromosome 19q13.33." + }, + { + "input": "neurodegeneration with brain iron accumulation 4", + "output": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the c19orf12 gene on chromosome 19q12." + }, + { + "input": "neurodegeneration with brain iron accumulation 5", + "output": "A neurodegeneration with brain iron accumulation that has_material_basis_in x-linked dominant inheritance of mutation in the wdr45 gene on chromosome xp11.23." + }, + { + "input": "neurodegeneration with brain iron accumulation 6", + "output": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the coasy gene on chromosome 17q21.2." + }, + { + "input": "type 1 diabetes mellitus 2", + "output": "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the ins gene on chromosome 11p15.5." + }, + { + "input": "type 1 diabetes mellitus 3", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26." + }, + { + "input": "type 1 diabetes mellitus 4", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13." + }, + { + "input": "type 1 diabetes mellitus 5", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the sumo4 gene on chromosome 6q25.1." + }, + { + "input": "type 1 diabetes mellitus 6", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21." + }, + { + "input": "type 1 diabetes mellitus 7", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31." + }, + { + "input": "type 1 diabetes mellitus 8", + "output": "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27." + }, + { + "input": "type 1 diabetes mellitus 10", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the il2ra gene on chromosome 10p15.1." + }, + { + "input": "type 1 diabetes mellitus 11", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31." + }, + { + "input": "type 1 diabetes mellitus 12", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the ctla4 gene on chromosome 2q33.2." + }, + { + "input": "type 1 diabetes mellitus 13", + "output": "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34." + }, + { + "input": "type 1 diabetes mellitus 15", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21." + }, + { + "input": "type 1 diabetes mellitus 17", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25." + }, + { + "input": "type 1 diabetes mellitus 18", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1." + }, + { + "input": "type 1 diabetes mellitus 19", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3." + }, + { + "input": "type 1 diabetes mellitus 20", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the hnf1a gene on chromosome 12q24.31." + }, + { + "input": "type 1 diabetes mellitus 21", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25." + }, + { + "input": "type 1 diabetes mellitus 22", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the ccr5 gene on chromosome 3p21.31." + }, + { + "input": "type 1 diabetes mellitus 23", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27." + }, + { + "input": "type 1 diabetes mellitus 24", + "output": "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31." + }, + { + "input": "hereditary spastic paraplegia 10", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the kif5a gene on chromosome 12q13." + }, + { + "input": "hereditary spastic paraplegia 11", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the spg11 gene on chromosome 15q21." + }, + { + "input": "hereditary spastic paraplegia 12", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the rtn2 gene on chromosome 19q13." + }, + { + "input": "hereditary spastic paraplegia 13", + "output": "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the hspd1 gene on chromosome 2q33." + }, + { + "input": "hereditary spastic paraplegia 14", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28." + }, + { + "input": "hereditary spastic paraplegia 15", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the zfyve26 gene on chromosome 14q24.1." + }, + { + "input": "hereditary spastic paraplegia 16", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region xq11.2." + }, + { + "input": "hereditary spastic paraplegia 17", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the bscl2 gene on chromosome 11q12." + }, + { + "input": "hereditary spastic paraplegia 18", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the erlin2 gene on chromosome 8p11." + }, + { + "input": "hereditary spastic paraplegia 19", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q." + }, + { + "input": "hereditary spastic paraplegia 2", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the plp1 gene on chromosome xq22.2." + }, + { + "input": "hereditary spastic paraplegia 23", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32." + }, + { + "input": "hereditary spastic paraplegia 24", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14." + }, + { + "input": "hereditary spastic paraplegia 25", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1." + }, + { + "input": "hereditary spastic paraplegia 26", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the b4galnt1 gene on chromosome 12q13." + }, + { + "input": "hereditary spastic paraplegia 27", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1." + }, + { + "input": "hereditary spastic paraplegia 28", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ddhd1 gene on chromosome 14q22." + }, + { + "input": "hereditary spastic paraplegia 29", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1." + }, + { + "input": "hereditary spastic paraplegia 30", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the kif1a gene on chromosome 2q37." + }, + { + "input": "hereditary spastic paraplegia 31", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the reep1 gene on chromosome 2p11." + }, + { + "input": "hereditary spastic paraplegia 32", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21." + }, + { + "input": "hereditary spastic paraplegia 33", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the zfyve27 gene on chromosome 10q24." + }, + { + "input": "hereditary spastic paraplegia 34", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region xq24-q25." + }, + { + "input": "hereditary spastic paraplegia 35", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the fa2h gene on chromosome 16q23.1." + }, + { + "input": "hereditary spastic paraplegia 36", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24." + }, + { + "input": "hereditary spastic paraplegia 37", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3." + }, + { + "input": "hereditary spastic paraplegia 38", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15." + }, + { + "input": "hereditary spastic paraplegia 39", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the pnpla6 gene on chromosome 19p13." + }, + { + "input": "hereditary spastic paraplegia 3a", + "output": "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the atl1 gene on chromosome 14q22." + }, + { + "input": "hereditary spastic paraplegia 4", + "output": "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the spast gene on chromosome 2p22." + }, + { + "input": "hereditary spastic paraplegia 41", + "output": "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2." + }, + { + "input": "hereditary spastic paraplegia 42", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the slc33a1 gene on chromosome 3q25.31." + }, + { + "input": "hereditary spastic paraplegia 43", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the c19orf12 gene on chromosome 19q12." + }, + { + "input": "hereditary spastic paraplegia 44", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the gjc2 gene on chromosome 1q42." + }, + { + "input": "hereditary spastic paraplegia 45", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the nt5c2 gene on chromosome 10q24." + }, + { + "input": "hereditary spastic paraplegia 46", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the gba2 gene on chromosome 9p." + }, + { + "input": "hereditary spastic paraplegia 47", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ap4b1 gene on chromosome 1p13." + }, + { + "input": "hereditary spastic paraplegia 48", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ap5z1 gene on chromosome 7p22.1." + }, + { + "input": "hereditary spastic paraplegia 49", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the tecpr2 gene on chromosome 14q32." + }, + { + "input": "hereditary spastic paraplegia 50", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ap4m1 gene on chromosome 7q22.1." + }, + { + "input": "hereditary spastic paraplegia 51", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ap4e1 gene on chromosome 15q21." + }, + { + "input": "hereditary spastic paraplegia 52", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ap4s1 gene on chromosome 14q12." + }, + { + "input": "hereditary spastic paraplegia 53", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the vps37a gene on chromosome 8p22." + }, + { + "input": "hereditary spastic paraplegia 54", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ddhd2 gene on chromosome 8p11." + }, + { + "input": "hereditary spastic paraplegia 55", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the c12orf65 gene on chromosome 12q24." + }, + { + "input": "hereditary spastic paraplegia 56", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the cyp2u1 gene on chromosome 4q25." + }, + { + "input": "hereditary spastic paraplegia 57", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the tfg gene on chromosome 3q12." + }, + { + "input": "hereditary spastic paraplegia 5a", + "output": "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the cyp7b1 gene on chromosome 8q12." + }, + { + "input": "hereditary spastic paraplegia 6", + "output": "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the nipa1 gene on chromosome 15q11.2." + }, + { + "input": "hereditary spastic paraplegia 61", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the arl6ip1 gene on chromosome 16p12." + }, + { + "input": "hereditary spastic paraplegia 62", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the erlin1 gene on chromosome 10q24." + }, + { + "input": "hereditary spastic paraplegia 63", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the ampd2 gene on chromosome 1p13." + }, + { + "input": "hereditary spastic paraplegia 64", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the entpd1 gene on chromosome 10q24." + }, + { + "input": "hereditary spastic paraplegia 7", + "output": "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the spg7 gene on chromosome 16q24." + }, + { + "input": "hereditary spastic paraplegia 72a", + "output": "A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the reep2 gene on chromosome 5q31.2." + }, + { + "input": "hereditary spastic paraplegia 73", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the cpt1c gene on chromosome 19q13." + }, + { + "input": "hereditary spastic paraplegia 74", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the iba57 gene on chromosome 1q42." + }, + { + "input": "hereditary spastic paraplegia 75", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the mag gene on chromosome 19q13." + }, + { + "input": "hereditary spastic paraplegia 76", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the capn1 gene on chromosome 11q13." + }, + { + "input": "hereditary spastic paraplegia 77", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the fars2 gene on chromosome 6p25." + }, + { + "input": "hereditary spastic paraplegia 8", + "output": "A hereditary spastic paraplegia that has_material_basis_in mutation in the kiaa0196 gene on chromosome 8q24." + }, + { + "input": "hereditary spastic paraplegia 9a", + "output": "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the aldh18a1 gene on chromosome 10q24." + }, + { + "input": "hereditary spastic paraplegia 9b", + "output": "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the aldh18a1 gene on chromosome 10q24." + }, + { + "input": "usher syndrome type 1", + "output": "An usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa." + }, + { + "input": "usher syndrome type 2", + "output": "An usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa." + }, + { + "input": "usher syndrome type 3", + "output": "An usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life." + }, + { + "input": "retinitis pigmentosa-deafness syndrome", + "output": "An usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the mtts2 gene in the mitochondrial genome." + }, + { + "input": "usher syndrome type 1c", + "output": "An usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the ush1c gene on chromosome 11p15." + }, + { + "input": "usher syndrome type 1d", + "output": "An usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the cdh23 gene on chromosome 10q22." + }, + { + "input": "usher syndrome type 1f", + "output": "An usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the pcdh15 gene on chromosome 10q." + }, + { + "input": "usher syndrome type 1e", + "output": "An usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21." + }, + { + "input": "usher syndrome type 1g", + "output": "An usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the ush1g gene on chromosome 17q25." + }, + { + "input": "usher syndrome type 1h", + "output": "An usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23." + }, + { + "input": "usher syndrome type 1j", + "output": "An usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the cib2 gene on chromosome 15q24." + }, + { + "input": "usher syndrome type 1k", + "output": "An usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1." + }, + { + "input": "usher syndrome type 2a", + "output": "An usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the ush2a gene on chromosome 1q41." + }, + { + "input": "usher syndrome type 2c", + "output": "An usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the adgrv1 gene on chromosome 5q14." + }, + { + "input": "usher syndrome type 2d", + "output": "An usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the whrn gene on chromosome 9q32." + }, + { + "input": "usher syndrome type 3a", + "output": "An usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the clrn1 gene on chromosome 3q25." + }, + { + "input": "usher syndrome type 3b", + "output": "An usher syndrome type 3 that has_material_basis_in homozygous mutation in the hars gene on chromosome 5q31." + }, + { + "input": "xeroderma pigmentosum group a", + "output": "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the xpa gene on chromosome 9q22." + }, + { + "input": "xeroderma pigmentosum group c", + "output": "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the xpc gene on chromosome 3p25." + }, + { + "input": "xeroderma pigmentosum group d", + "output": "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ercc2 on chromosome 19q13." + }, + { + "input": "xeroderma pigmentosum group e", + "output": "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the ddb2 gene on chromosome 11p11." + }, + { + "input": "xeroderma pigmentosum variant type", + "output": "A xeroderma pigmentosum characterized by normal dna excision repair, but defective postreplication repair that has_material_basis_in mutations in the polh gene on chromosome 6p21.1." + }, + { + "input": "xeroderma pigmentosum group f", + "output": "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ercc4 gene on chromosome 16p13." + }, + { + "input": "xeroderma pigmentosum group g", + "output": "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ercc5 gene on chromosome 13q33." + }, + { + "input": "xeroderma pigmentosum group b", + "output": "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ercc3 gene on chromosome 2q14." + }, + { + "input": "rhizomelic chondrodysplasia punctata type 1", + "output": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the pex7 gene on chromosome 6q23.3." + }, + { + "input": "rhizomelic chondrodysplasia punctata type 2", + "output": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gnpat gene on chromosome 1q42.2." + }, + { + "input": "rhizomelic chondrodysplasia punctata type 3", + "output": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the agps gene on chromosome 2q31.2." + }, + { + "input": "rhizomelic chondrodysplasia punctata type 5", + "output": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the pex5 gene on chromosome 12p13.31." + }, + { + "input": "posterior polymorphous corneal dystrophy 1", + "output": "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the ovol2 gene on chromosome 20p11.23." + }, + { + "input": "posterior polymorphous corneal dystrophy 2", + "output": "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the col8a2 gene on chromosome 1p34.3." + }, + { + "input": "posterior polymorphous corneal dystrophy 3", + "output": "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the zeb1 gene on chromosome 10p11.22." + }, + { + "input": "polycystic kidney disease 1", + "output": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the pkd1 gene on chromosome 16p13.3." + }, + { + "input": "polycystic kidney disease 2", + "output": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the pkd2 gene on chromosome 4q22.1." + }, + { + "input": "polycystic kidney disease 3", + "output": "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the ganab gene on chromosome 11q12.3." + }, + { + "input": "autosomal recessive polycystic kidney disease", + "output": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion." + }, + { + "input": "congenital stationary night blindness autosomal dominant 1", + "output": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the rho gene on chromosome 3q22.1." + }, + { + "input": "congenital stationary night blindness autosomal dominant 2", + "output": "A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the pde6b gene on chromosome 4p16." + }, + { + "input": "congenital stationary night blindness 1f", + "output": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the lrit3 gene on chromosome 4q25." + }, + { + "input": "congenital stationary night blindness 1b", + "output": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the grm6 gene on chromosome 5q35." + }, + { + "input": "congenital stationary night blindness 1h", + "output": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the gnb3 gene on chromosome 12p13." + }, + { + "input": "congenital stationary night blindness 1c", + "output": "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the trpm1 gene on chromosome 15q13-q14." + }, + { + "input": "congenital stationary night blindness 1d", + "output": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the slc24a1 gene on chromosome 15q22." + }, + { + "input": "congenital stationary night blindness 1e", + "output": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the gpr179 gene on chromosome 17q12." + }, + { + "input": "congenital stationary night blindness 1a", + "output": "A congenital stationary night blindness that has_material_basis_in mutation in the nyx gene on chromosome xp11.4." + }, + { + "input": "congenital stationary night blindness 2a", + "output": "A congenital stationary night blindness that has_material_basis_in mutation in the cacna1f gene on chromosome xp11.23." + }, + { + "input": "holoprosencephaly 2", + "output": "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing six3 gene on chromosome 2p21." + }, + { + "input": "holoprosencephaly 9", + "output": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the gli2 gene on chromosome 2q14." + }, + { + "input": "holoprosencephaly 6", + "output": "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3." + }, + { + "input": "holoprosencephaly 3", + "output": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the shh gene on chromosome 7q36." + }, + { + "input": "holoprosencephaly 7", + "output": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ptch1 gene on chromosome 9q22." + }, + { + "input": "holoprosencephaly 11", + "output": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the cdon gene on chromosome 11q24." + }, + { + "input": "holoprosencephaly 5", + "output": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the zic2 gene on chromosome 13q32." + }, + { + "input": "holoprosencephaly 8", + "output": "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13." + }, + { + "input": "holoprosencephaly 4", + "output": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the tgif gene on chromosome 18p11." + }, + { + "input": "holoprosencephaly 1", + "output": "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3." + }, + { + "input": "inflammatory bowel disease 7", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36." + }, + { + "input": "inflammatory bowel disease 17", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the il23r gene on chromosome 1p31.3." + }, + { + "input": "inflammatory bowel disease 23", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1." + }, + { + "input": "inflammatory bowel disease 10", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the atg16l1 gene on chromosome 2q37." + }, + { + "input": "inflammatory bowel disease 9", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26." + }, + { + "input": "inflammatory bowel disease 12", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3." + }, + { + "input": "inflammatory bowel disease 18", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1." + }, + { + "input": "inflammatory bowel disease 5", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31." + }, + { + "input": "inflammatory bowel disease 19", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1." + }, + { + "input": "inflammatory bowel disease 3", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3." + }, + { + "input": "inflammatory bowel disease 1", + "output": "An inflammatory bowel disease that has_material_basis_in mutations in the nod2 gene on chromosome 16q12.1." + }, + { + "input": "inflammatory bowel disease 13", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the abcb1 gene on chromosome 7q21.1." + }, + { + "input": "inflammatory bowel disease 11", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22." + }, + { + "input": "inflammatory bowel disease 14", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the irf5 gene on chromosome 7q32." + }, + { + "input": "inflammatory bowel disease 16", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32." + }, + { + "input": "inflammatory bowel disease 15", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21." + }, + { + "input": "inflammatory bowel disease 20", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24." + }, + { + "input": "inflammatory bowel disease 28", + "output": "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the il10ra gene on chromosome 11q23." + }, + { + "input": "inflammatory bowel disease 2", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1." + }, + { + "input": "inflammatory bowel disease 26", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15." + }, + { + "input": "inflammatory bowel disease 27", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3." + }, + { + "input": "inflammatory bowel disease 4", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12." + }, + { + "input": "inflammatory bowel disease 8", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p." + }, + { + "input": "inflammatory bowel disease 22", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2." + }, + { + "input": "inflammatory bowel disease 21", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11." + }, + { + "input": "inflammatory bowel disease 6", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13." + }, + { + "input": "inflammatory bowel disease 24", + "output": "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13." + }, + { + "input": "inflammatory bowel disease 25", + "output": "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the il10rb gene on chromosome 21q22." + }, + { + "input": "leukocyte adhesion deficiency 1", + "output": "A leukocyte adhesion deficiency that has_material_basis_in mutation of the itgb2 gene on chromosome 21q22.3." + }, + { + "input": "leukocyte adhesion deficiency 3", + "output": "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in fermt3 gene on chromosome 11q12." + }, + { + "input": "adult hypophosphatasia", + "output": "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the alpl gene on chromosome 1p36.12." + }, + { + "input": "infantile hypophosphatasia", + "output": "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (alpl) on chromosome 1p36." + }, + { + "input": "childhood hypophosphatasia", + "output": "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the alpl gene on chromosome 1p36.12." + }, + { + "input": "hereditary spherocytosis type 1", + "output": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ank1 gene on chromosome 8p11.21." + }, + { + "input": "hereditary spherocytosis type 2", + "output": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the sptb gene on chromosome 14q23.3." + }, + { + "input": "hereditary spherocytosis type 3", + "output": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the spta1 gene on chromosome 1q23.1." + }, + { + "input": "hereditary spherocytosis type 4", + "output": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the slc4a1 gene on chromosome 17q21.31." + }, + { + "input": "hereditary spherocytosis type 5", + "output": "A hereditary spherocytosis that has_material_basis_in a mutation of the epb42 gene on chromosome 15q15.2." + }, + { + "input": "familial hemophagocytic lymphohistiocytosis 1", + "output": "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the hplh1 gene on chromosome 9q21.3-q22." + }, + { + "input": "familial hemophagocytic lymphohistiocytosis 2", + "output": "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the prf1 gene on chromosome 10q22.1." + }, + { + "input": "familial hemophagocytic lymphohistiocytosis 3", + "output": "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the unc13d gene on chromosome 17q25.1." + }, + { + "input": "familial hemophagocytic lymphohistiocytosis 4", + "output": "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the stx11 gene on chromosome 6q24.2." + }, + { + "input": "familial hemophagocytic lymphohistiocytosis 5", + "output": "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the stxbp2 gene on chromosome 19p13.2." + }, + { + "input": "nemaline myopathy 1", + "output": "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the tpm3 gene on chromosome 1q21." + }, + { + "input": "nemaline myopathy 3", + "output": "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the acta1 gene on chromosome 1q42." + }, + { + "input": "nemaline myopathy 2", + "output": "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the neb gene on chromosome 2q23." + }, + { + "input": "nemaline myopathy 9", + "output": "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the klhl41 gene on chromosome 2q31." + }, + { + "input": "nemaline myopathy 8", + "output": "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the klhl40 gene on chromosome 3p22." + }, + { + "input": "nemaline myopathy 10", + "output": "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the lmod3 gene on chromosome 3p14." + }, + { + "input": "nemaline myopathy 4", + "output": "A nemaline myopathy that has_material_basis_in heterozygous mutation in the tpm2 gene on chromosome 9p13." + }, + { + "input": "nemaline myopathy 11", + "output": "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the mypn gene on chromosome 10q21." + }, + { + "input": "nemaline myopathy 7", + "output": "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the cfl2 gene on chromosome 14q13." + }, + { + "input": "nemaline myopathy 6", + "output": "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the kbtbd13 gene on chromosome 15q22." + }, + { + "input": "nemaline myopathy 5a", + "output": "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the tnnt1 gene on chromosome 19q13, with infantile onset." + }, + { + "input": "autosomal dominant osteopetrosis 1", + "output": "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the lrp5 gene on chromosome 11q13." + }, + { + "input": "autosomal dominant osteopetrosis 2", + "output": "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the clcn7 gene on chromosome 16p13." + }, + { + "input": "autosomal recessive osteopetrosis 5", + "output": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ostm1 gene on chromosome 6q21." + }, + { + "input": "autosomal recessive osteopetrosis 8", + "output": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the snx10 gene on chromosome 7p15." + }, + { + "input": "autosomal recessive osteopetrosis 3", + "output": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the ca2 gene on chromosome 8q21." + }, + { + "input": "autosomal recessive osteopetrosis 1", + "output": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the tcirg1 gene on chromosome 11q13.2." + }, + { + "input": "autosomal recessive osteopetrosis 2", + "output": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the tnfsf11 gene on chromosome 13q14." + }, + { + "input": "autosomal recessive osteopetrosis 4", + "output": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the clcn7 gene on chromosome 16p13." + }, + { + "input": "autosomal recessive osteopetrosis 6", + "output": "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the plekhm1 gene on chromosome 17q21.31." + }, + { + "input": "autosomal recessive osteopetrosis 7", + "output": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the tnfrsf11a gene on chromosome 18q21." + }, + { + "input": "waardenburg syndrome type 2b", + "output": "A waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3." + }, + { + "input": "waardenburg syndrome type 1", + "output": "A waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the pax3 gene on chromosome 2q36." + }, + { + "input": "waardenburg syndrome type 3", + "output": "A waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the pax3 gene on chromosome 2q36." + }, + { + "input": "waardenburg syndrome type 2a", + "output": "A waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the mitf gene on chromosome 3p13." + }, + { + "input": "waardenburg syndrome type 2c", + "output": "A waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23." + }, + { + "input": "waardenburg syndrome type 4a", + "output": "A waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the ednrb gene on chromosome 13q22." + }, + { + "input": "waardenburg syndrome type 4b", + "output": "A waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the edn3 gene on chromosome 20q13." + }, + { + "input": "waardenburg syndrome type 4c", + "output": "A waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and hirschsprung disease that has_material_basis_in heterozygous mutation in the sox10 gene on chromosome 22q13." + }, + { + "input": "waardenburg syndrome type 2e", + "output": "A waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the sox10 gene on chromosome 22q13." + }, + { + "input": "gaucher's disease type i", + "output": "A gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the gba1 gene on chromosome 1q22." + }, + { + "input": "gaucher's disease type ii", + "output": "A gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the gba1 gene on chromosome 1q22." + }, + { + "input": "gaucher's disease type iii", + "output": "A gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type ii that has_material_basis_in homozygous or compound heterozygous mutation in the gba1 gene on chromosome 1q22." + }, + { + "input": "gaucher's disease perinatal lethal", + "output": "A gaucher's disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the gba1 gene on chromosome 1q22." + }, + { + "input": "atypical gaucher's disease due to saposin c deficiency", + "output": "A gaucher's disease that has_material_basis_in compound heterozygous mutation in the psap gene on chromosome 10q22.1." + }, + { + "input": "brachydactyly-preaxial hallux varus syndrome", + "output": "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges." + }, + { + "input": "ballard syndrome", + "output": "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature." + }, + { + "input": "brachydactyly type a1", + "output": "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes." + }, + { + "input": "brachydactyly type a2", + "output": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the bmpr1b gene on chromosome 4q or in the gdf5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of bmp2 on chromosome 20p12." + }, + { + "input": "brachydactyly type a3", + "output": "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger." + }, + { + "input": "brachydactyly type a4", + "output": "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus." + }, + { + "input": "brachydactyly type a6", + "output": "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions." + }, + { + "input": "brachydactyly type b1", + "output": "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ror2 gene on chromosome 9q22." + }, + { + "input": "brachydactyly type c", + "output": "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the gdf5 gene on chromosome 20q11." + }, + { + "input": "brachydactyly type d", + "output": "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the hoxd13 gene on chromosome 2q31.1." + }, + { + "input": "brachydactyly type e1", + "output": "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the hoxd13 gene on chromosome 2q31." + }, + { + "input": "mononen-karnes-senac syndrome", + "output": "A brachydactyly characterized by short, abducted thumbs and great toes." + }, + { + "input": "brachydactyly type a1b", + "output": "A brachydactyly type a1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2." + }, + { + "input": "brachydactyly type b2", + "output": "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the nog gene on chromosome 17q22." + }, + { + "input": "brachydactyly type e2", + "output": "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the pthlh gene on chromosome 12p." + }, + { + "input": "brachydactyly type a1c", + "output": "A brachydactyly type a1 has_material_basis_in homozygous or heterozygous mutation in the gdf5 gene on chromosome 20q11." + }, + { + "input": "brachydactyly type a1d", + "output": "A brachydactyly type a1 that has_material_basis_in heterozygous mutation in the bmpr1b gene on chromosome 4q22." + }, + { + "input": "sugarman brachydactyly", + "output": "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position." + }, + { + "input": "joubert syndrome 1", + "output": "A joubert syndrome that has_material_basis_in homozygous mutation in the inpp5e gene on chromosome 9q34." + }, + { + "input": "joubert syndrome 10", + "output": "A joubert syndrome that has_material_basis_in x-linked recessive inheritance of mutation in the ofd1 gene on chromosome xp22.2." + }, + { + "input": "joubert syndrome 13", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the tctn1 gene on chromosome 12q24." + }, + { + "input": "joubert syndrome 14", + "output": "A joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the tmem237 gene on chromosome 2q33." + }, + { + "input": "joubert syndrome 15", + "output": "A joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the cep41 gene on chromosome 7q32." + }, + { + "input": "joubert syndrome 16", + "output": "A joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the tmem138 gene on chromosome 11q." + }, + { + "input": "joubert syndrome 17", + "output": "A joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the c5orf42 gene on chromosome 5p13." + }, + { + "input": "joubert syndrome 18", + "output": "A joubert syndrome that has_material_basis_in homozygous mutation in the tctn3 gene on chromosome 10q24." + }, + { + "input": "joubert syndrome 2", + "output": "A joubert syndrome characterized by molar tooth sign on brain mri, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the tmem216 gene on chromosome 11q12.2." + }, + { + "input": "joubert syndrome 20", + "output": "A joubert syndrome that has_material_basis_in compound heterozygous mutation in the tmem231 gene on chromosome 16q23." + }, + { + "input": "joubert syndrome 21", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the cspp1 gene on chromosome 8q13." + }, + { + "input": "joubert syndrome 22", + "output": "A joubert syndrome that has_material_basis_in homozygous mutation in the pde6d gene on chromosome 2q37." + }, + { + "input": "joubert syndrome 23", + "output": "A joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain mri that has_material_basis_in homozygous or compound heterozygous mutation in the kiaa0586 gene on chromosome 14q23." + }, + { + "input": "joubert syndrome 24", + "output": "A joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain mri that has_material_basis_in homozygous mutation in the tctn2 gene on chromosome 12q24." + }, + { + "input": "joubert syndrome 25", + "output": "A joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain mri that has_material_basis_in homozygous or compound heterozygous mutation in the cep104 gene on chromosome 1p36." + }, + { + "input": "joubert syndrome 26", + "output": "A joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the kiaa0556 gene on chromosome 16p12." + }, + { + "input": "joubert syndrome 27", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the b9d1 gene on chromosome 17p11." + }, + { + "input": "joubert syndrome 28", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mks1 gene on chromosome 17q23." + }, + { + "input": "joubert syndrome 3", + "output": "A joubert syndrome that has_material_basis_in homozygous mutation in the ahi1 gene on chromosome 6q23.3." + }, + { + "input": "joubert syndrome 4", + "output": "A joubert syndrome that has_material_basis_in deletions of the nphp1 gene on chromosome 2q13." + }, + { + "input": "joubert syndrome 5", + "output": "A joubert syndrome that has_material_basis_in mutation in the cep290 gene on chromosome 12q21." + }, + { + "input": "joubert syndrome 6", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the tmem67 gene on chromosome 8q22." + }, + { + "input": "joubert syndrome 7", + "output": "A joubert syndrome that has_material_basis_in mutation in the rpgrip1l gene on chromosome 16q12.2." + }, + { + "input": "joubert syndrome 8", + "output": "A joubert syndrome that has_material_basis_in mutation in the arl13b gene on chromosome 3q11.1-q11.2." + }, + { + "input": "joubert syndrome 9", + "output": "A joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the cc2d2a gene on chromosome 4p15." + }, + { + "input": "cone-rod dystrophy 2", + "output": "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the crx gene on chromosome 19q13." + }, + { + "input": "x-linked cone-rod dystrophy 2", + "output": "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region xq27." + }, + { + "input": "x-linked cone-rod dystrophy 3", + "output": "A cone-rod dystrophy that has_material_basis_in mutation in the cacna1f gene on chromosome xp11." + }, + { + "input": "x-linked cone-rod dystrophy 1", + "output": "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the rpgr gene on chromosome xp11." + }, + { + "input": "cone-rod dystrophy 1", + "output": "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3." + }, + { + "input": "cone-rod dystrophy 5", + "output": "A cone-rod dystrophy that has_material_basis_in mutation in the pitpnm3 gene in chromosome region 17p13.2-p13.1." + }, + { + "input": "cone-rod dystrophy 6", + "output": "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the gucy2d gene on chromosome 17p13.1." + }, + { + "input": "cone-rod dystrophy 7", + "output": "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13." + }, + { + "input": "cone-rod dystrophy 3", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the abca4 gene on chromosome 1p22." + }, + { + "input": "cone-rod dystrophy 8", + "output": "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24." + }, + { + "input": "newfoundland cone-rod dystrophy", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the rlbp1 gene on chromosome 15q26." + }, + { + "input": "cone-rod dystrophy 13", + "output": "A cone-rod dystrophy that has_material_basis_in mutation in the rpgrip1 gene on chromosome 14q11.2." + }, + { + "input": "cone-rod dystrophy 10", + "output": "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the sema4a gene on chromosome 1q22." + }, + { + "input": "cone-rod dystrophy 11", + "output": "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the rax2 gene on chromosome 19p13." + }, + { + "input": "cone-rod dystrophy 12", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the prom1 gene on chromosome 4p15." + }, + { + "input": "cone-rod dystrophy 9", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the adam9 gene on chromosome 8p11." + }, + { + "input": "cone-rod dystrophy 15", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the cdhr1 gene on chromosome 10q23." + }, + { + "input": "cone-rod dystrophy 16", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the c8orf37 gene on chromosome 8q22." + }, + { + "input": "cone-rod dystrophy 17", + "output": "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26." + }, + { + "input": "cone-rod dystrophy 18", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the rab28 gene on chromosome 4p15." + }, + { + "input": "cone-rod dystrophy 19", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ttll5 gene on chromosome 14q24." + }, + { + "input": "cone-rod dystrophy 20", + "output": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the poc1b gene on chromosome 12q21." + }, + { + "input": "hemochromatosis type 2a", + "output": "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the hjv gene on chromosome 1q21." + }, + { + "input": "hemochromatosis type 4", + "output": "A hemochromatosis that has_material_basis_in heterozygous mutation in the slc40a1 gene on chromosome 2q32." + }, + { + "input": "hemochromatosis type 1", + "output": "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the hfe gene on chromosome 6p22." + }, + { + "input": "hemochromatosis type 3", + "output": "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the tfr2 gene on chromosome 7q22." + }, + { + "input": "hemochromatosis type 5", + "output": "A hemochromatosis that has_material_basis_in heterozygous mutation in the fth1 gene on chromosome 11q12." + }, + { + "input": "hemochromatosis type 2b", + "output": "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the hamp gene on chromosome 19q13." + }, + { + "input": "african iron overload", + "output": "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums." + }, + { + "input": "hemochromatosis type 2", + "output": "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis." + }, + { + "input": "cadasil 1", + "output": "A cadasil characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the notch3 gene on chromosome 19p13." + }, + { + "input": "cadasil 2", + "output": "A cadasil characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the htra1 gene on chromosome 10q26." + }, + { + "input": "glycine n-methyltransferase deficiency", + "output": "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type i, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the gnmt gene on chromosome 6p21." + }, + { + "input": "hypermethioninemia due to adenosine kinase deficiency", + "output": "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the adk gene on chromosome 10q22." + }, + { + "input": "hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase", + "output": "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the ahcy gene on chromosome 20q11." + }, + { + "input": "glycogen storage disease ixd", + "output": "A glycogen storage disease ix that is characterized by x-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the phka1 gene on chromosome xq13." + }, + { + "input": "glycogen storage disease ixb", + "output": "A glycogen storage disease ix characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the phkb gene on chromosome 16q12." + }, + { + "input": "glycogen storage disease ixa", + "output": "A glycogen storage disease ix characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in x-linked inheritance of mutation in the phka2 gene on chromosome xp22." + }, + { + "input": "glycogen storage disease ixc", + "output": "A glycogen storage disease ix characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the phkg2 gene on chromosome 16p11." + }, + { + "input": "gray platelet syndrome", + "output": "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the nbeal2 gene on chromosome 3p21." + }, + { + "input": "platelet-type bleeding disorder 9", + "output": "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the itga2 gene on chromosome 5q11.2." + }, + { + "input": "platelet-type bleeding disorder 10", + "output": "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the cd36 antigen gene on chromosome 7q21." + }, + { + "input": "platelet-type bleeding disorder 14", + "output": "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the tbxas1 gene on chromosome 7q34." + }, + { + "input": "platelet-type bleeding disorder 19", + "output": "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the prkacg gene on chromosome 9q21." + }, + { + "input": "platelet-type bleeding disorder 17", + "output": "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the gfi1b gene on chromosome 9q34." + }, + { + "input": "quebec platelet disorder", + "output": "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the plau gene on chromosome 10q22." + }, + { + "input": "platelet-type bleeding disorder 18", + "output": "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the rasgrp2 gene on chromosome 11q13." + }, + { + "input": "scott syndrome", + "output": "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the tmem16f gene on chromosome 12q12." + }, + { + "input": "platelet-type bleeding disorder 15", + "output": "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the actn1 gene on chromosome 14q." + }, + { + "input": "von willebrand's disease 3", + "output": "A von willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of vwf in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the vwf gene which maps to chromosome 12p13." + }, + { + "input": "platelet-type bleeding disorder 20", + "output": "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and atp secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the slfn14 gene on chromosome 17q12." + }, + { + "input": "platelet-type bleeding disorder 3", + "output": "A blood platelet disease characterized by enhanced binding of von willebrand factor by the platelet glycoprotein ib receptor complex that has_material_basis_in mutation in the gp1ba gene on chromosome 17p13.2." + }, + { + "input": "platelet-type bleeding disorder 11", + "output": "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the gp6 gene on chromosome 19q13." + }, + { + "input": "platelet-type bleeding disorder 12", + "output": "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane a2 in platelets due to deficiency in ptgs1 activity." + }, + { + "input": "bernard-soulier syndrome type a2", + "output": "A bernard-soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the gp1ba gene on chromosome 17p." + }, + { + "input": "ambras type hypertrichosis universalis congenita", + "output": "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22." + }, + { + "input": "familial hypobetalipoproteinemia 2", + "output": "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the angptl3 gene on chromosome 1p31." + }, + { + "input": "familial hypobetalipoproteinemia 1", + "output": "A hypobetalipoproteinemia that has_material_basis_in mutation in the apob gene on chromosome 2p24." + }, + { + "input": "hyperphosphatemic familial tumoral calcinosis", + "output": "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the galnt3 gene, the fgf23 gene, or the kl gene." + }, + { + "input": "distal spinal muscular atrophy 1", + "output": "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the ighmbp2 gene on chromosome 11q13." + }, + { + "input": "distal spinal muscular atrophy 2", + "output": "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the sigmar1 gene on chromosome 9p13." + }, + { + "input": "congenital bile acid synthesis defect 5", + "output": "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the abcd3 gene on chromosome 1p21." + }, + { + "input": "congenital bile acid synthesis defect 6", + "output": "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the acox2 gene on chromosome 3p14." + }, + { + "input": "congenital bile acid synthesis defect 4", + "output": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of thca in bile, serum and urine that has_material_basis_in homozygous mutation in the amacr gene on chromosome 5p13." + }, + { + "input": "congenital bile acid synthesis defect 2", + "output": "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the akr1d1 gene on chromosome 7q33." + }, + { + "input": "congenital bile acid synthesis defect 3", + "output": "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the cyp7b1 gene on chromosome 8q12." + }, + { + "input": "congenital bile acid synthesis defect 1", + "output": "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the hsd3b7 gene on chromosome 16p." + }, + { + "input": "myostatin-related muscle hypertrophy", + "output": "A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the mstn gene on chromosome 2q32.2." + }, + { + "input": "progressive familial heart block", + "output": "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (av) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death." + }, + { + "input": "progressive familial heart block type ia", + "output": "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the scn5a gene on chromosome 3p21." + }, + { + "input": "progressive familial heart block type ii", + "output": "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, stokes-adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32." + }, + { + "input": "progressive familial heart block type ib", + "output": "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the trpm4 gene on chromosome 19q13." + }, + { + "input": "pyruvate kinase deficiency of red cells", + "output": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the pklr gene on chromosome 1q22." + }, + { + "input": "tibial muscular dystrophy", + "output": "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (ttn) on chromosome 2q31." + }, + { + "input": "birdshot chorioretinopathy", + "output": "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia." + }, + { + "input": "fanconi anemia complementation group v", + "output": "A fanconi anemia that has_material_basis_in homozygous mutation in the mad2l2 gene on chromosome 1p36." + }, + { + "input": "fanconi anemia complementation group t", + "output": "A fanconi anemia that has_material_basis_in compound heterozygous mutation in the ube2t gene on chromosome 1q32." + }, + { + "input": "fanconi anemia complementation group l", + "output": "A fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the phf9 gene on chromosome 2p16." + }, + { + "input": "fanconi anemia complementation group d2", + "output": "A fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the fancd2 gene on chromosome 3p25." + }, + { + "input": "fanconi anemia complementation group e", + "output": "A fanconi anemia that has_material_basis_in homozygous mutation in the fance gene on chromosome 6p22-p21." + }, + { + "input": "fanconi anemia complementation group u", + "output": "A fanconi anemia that has_material_basis_in homozygous mutation in the xrcc2 gene on chromosome 7q36." + }, + { + "input": "fanconi anemia complementation group g", + "output": "A fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the xrcc9 gene on chromosome 9p13." + }, + { + "input": "fanconi anemia complementation group c", + "output": "A fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the fancc gene on chromosome 9q22." + }, + { + "input": "fanconi anemia complementation group f", + "output": "A fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the fancf gene on chromosome 11p15." + }, + { + "input": "fanconi anemia complementation group d1", + "output": "A fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the brca2 gene on chromosome 13q13." + }, + { + "input": "fanconi anemia complementation group r", + "output": "A fanconi anemia that has_material_basis_in heterozygous mutation in the rad51 gene on chromosome 15q15." + }, + { + "input": "fanconi anemia complementation group i", + "output": "A fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the fanci gene on chromosome 15q26." + }, + { + "input": "fanconi anemia complementation group p", + "output": "A fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the slx4 gene on chromosome 16p13.3." + }, + { + "input": "fanconi anemia complementation group q", + "output": "A fanconi anemia that has_material_basis_in compound heterozygous mutation in the ercc4 gene on chromosome 16p13." + }, + { + "input": "fanconi anemia complementation group n", + "output": "A fanconi anemia that has_material_basis_in compound heterozygous mutation in the palb2 gene on chromosome 16p12." + }, + { + "input": "fanconi anemia complementation group a", + "output": "A fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the fanca gene on chromosome 16q24." + }, + { + "input": "fanconi anemia complementation group o", + "output": "A fanconi anemia that has_material_basis_in homozygous mutation in the rad51c gene on chromosome 17q21-q24." + }, + { + "input": "fanconi anemia complementation group j", + "output": "A fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the brip1 gene on chromosome 17q22." + }, + { + "input": "fanconi anemia complementation group b", + "output": "A fanconi anemia that has_material_basis_in mutation in the fancb gene on chromosome xp22." + }, + { + "input": "maturity-onset diabetes of the young type 1", + "output": "A maturity-onset diabetes of the young that has_material_basis_in mutation in the hnf4a gene on chromosome 20." + }, + { + "input": "maturity-onset diabetes of the young type 2", + "output": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the gck gene on chromosome 7p13." + }, + { + "input": "maturity-onset diabetes of the young type 5", + "output": "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the hnf1b gene on chromosome 17q12." + }, + { + "input": "maturity-onset diabetes of the young type 3", + "output": "A maturity-onset diabetes of the young that has_material_basis_in mutation in the hnf1a gene on chromosome 12q24.31." + }, + { + "input": "maturity-onset diabetes of the young type 4", + "output": "A maturity-onset diabetes of the young that has_material_basis_in mutation in the pdx1 gene on chromosome 13q12.2." + }, + { + "input": "maturity-onset diabetes of the young type 6", + "output": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the neurod1 gene on chromosome 2q31." + }, + { + "input": "maturity-onset diabetes of the young type 8", + "output": "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the cel gene om chromosome 9q34.13." + }, + { + "input": "maturity-onset diabetes of the young type 7", + "output": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the klf11 gene on chromosome 2p25." + }, + { + "input": "maturity-onset diabetes of the young type 9", + "output": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the pax4 gene on chromosome 7q32.1." + }, + { + "input": "maturity-onset diabetes of the young type 10", + "output": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the ins gene on chromosome 11p15.5." + }, + { + "input": "maturity-onset diabetes of the young type 11", + "output": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the blk gene on chromosome 8p23-p22." + }, + { + "input": "maturity-onset diabetes of the young type 13", + "output": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the kcnj11 gene on chromosome 11p15." + }, + { + "input": "maturity-onset diabetes of the young type 14", + "output": "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the appl1 gene on chromosome 3p14." + }, + { + "input": "nephronophthisis 1", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the nphp1 gene on chromosome 2q13." + }, + { + "input": "nephronophthisis 2", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the invs gene on chromosome 9q31." + }, + { + "input": "nephronophthisis 3", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the nphp3 gene on chromosome 3q22." + }, + { + "input": "nephronophthisis 4", + "output": "A nephronophthisis that has_material_basis_in mutation in the nphp4 gene on chromosome 1p36.31." + }, + { + "input": "nephronophthisis 7", + "output": "A nephronophthisis that has_material_basis_in homozygous mutation in the glis2 gene on chromosome 16p13." + }, + { + "input": "nephronophthisis-like nephropathy 1", + "output": "A nephronophthisis that has_material_basis_in homozygous mutation in the xpnpep3 gene on chromosome 22q13.2." + }, + { + "input": "nephronophthisis 11", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the tmem67 gene on chromosome 8q22.1." + }, + { + "input": "nephronophthisis 12", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the ttc21b gene on chromosome 2q24." + }, + { + "input": "nephronophthisis 9", + "output": "A nephronophthisis that has_material_basis_in homozygous mutation in the nek8 gene on chromosome 17q11." + }, + { + "input": "nephronophthisis 13", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the wdr19 gene on chromosome 4p14." + }, + { + "input": "nephronophthisis 14", + "output": "A nephronophthisis that has_material_basis_in homozygous mutation in the znf423 gene on chromosome 16q12.1." + }, + { + "input": "nephronophthisis 15", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the cep164 gene on chromosome 11q." + }, + { + "input": "nephronophthisis 16", + "output": "A nephronophthisis that has_material_basis_in homozygous mutation in the anks6 gene on chromosome 9q22." + }, + { + "input": "nephronophthisis 18", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the cep83 gene on chromosome 12q22." + }, + { + "input": "nephronophthisis 19", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the dcdc2 gene on chromosome 6p22." + }, + { + "input": "nephronophthisis 20", + "output": "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the mapkbp1 gene on chromosome 15q15." + }, + { + "input": "focal segmental glomerulosclerosis 1", + "output": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the actn4 gene on chromosome 19q13.2." + }, + { + "input": "focal segmental glomerulosclerosis 2", + "output": "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the trpc6 gene on chromosome 11q22.1." + }, + { + "input": "focal segmental glomerulosclerosis 5", + "output": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the inf2 gene on chromosome 14q32.33." + }, + { + "input": "focal segmental glomerulosclerosis 6", + "output": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the myo1e gene on chromosome 15q22.2." + }, + { + "input": "focal segmental glomerulosclerosis 7", + "output": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the pax2 gene on chromosome 10q24.31." + }, + { + "input": "focal segmental glomerulosclerosis 8", + "output": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the anln gene on chromosome 7p14.2." + }, + { + "input": "focal segmental glomerulosclerosis 9", + "output": "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the crb2 gene on chromosome 9q33.3." + }, + { + "input": "congenital generalized lipodystrophy type 1", + "output": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of agpat2 on chromosome 9q34.3." + }, + { + "input": "congenital generalized lipodystrophy type 2", + "output": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of bscl2 on chromosome 11q12.3." + }, + { + "input": "congenital generalized lipodystrophy type 3", + "output": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of cav1 on chromosome 7q31.2." + }, + { + "input": "congenital generalized lipodystrophy type 4", + "output": "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of cavin1 on chromosome 17q21.2." + }, + { + "input": "mitochondrial complex iii deficiency", + "output": "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex iii." + }, + { + "input": "igsf1 deficiency syndrome", + "output": "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the igsf1 gene on chromosome xq26." + }, + { + "input": "delayed sleep phase syndrome", + "output": "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time." + }, + { + "input": "oligomeganephronia", + "output": "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency", + "output": "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting atp synthase complex." + }, + { + "input": "preterm premature rupture of the membranes", + "output": "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation." + }, + { + "input": "ureteropelvic junction obstruction", + "output": "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter." + }, + { + "input": "acquired von willebrand syndrome", + "output": "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders." + }, + { + "input": "angioimmunoblastic t-cell lymphoma", + "output": "A peripheral t-cell lymphoma characterized by autoimmune features and poor prognosis." + }, + { + "input": "isolated ectopia lentis", + "output": "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. this dislocation may be mild to severe and may progress with age." + }, + { + "input": "autosomal recessive isolated ectopia lentis 2", + "output": "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the adamtsl4 gene on chromosome 1q21." + }, + { + "input": "autosomal dominant isolated ectopia lentis 1", + "output": "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the fbn1 gene on chromosome 15q21." + }, + { + "input": "prinzmetal angina", + "output": "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity." + }, + { + "input": "multicentric castleman disease", + "output": "A castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6." + }, + { + "input": "congenital mirror movement disorder", + "output": "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs." + }, + { + "input": "postural orthostatic tachycardia syndrome", + "output": "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the slc6a2 gene on chromosome 16q12.2." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 21", + "output": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the scyl1 gene on chromosome 11q13." + }, + { + "input": "spermatogenic failure 9", + "output": "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the dpy19l2 gene on chromosome 12q14." + }, + { + "input": "castleman disease", + "output": "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically." + }, + { + "input": "saddan", + "output": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the fgfr3 gene on chromosome 4p16." + }, + { + "input": "partial trisomy distal 4q", + "output": "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q." + }, + { + "input": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", + "output": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the fgfr3 gene on chromosome 4p16." + }, + { + "input": "crouzon syndrome-acanthosis nigricans syndrome", + "output": "A syndrome characterized by crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the fgfr3 gene on chromosome 4p16." + }, + { + "input": "epidermal nevus", + "output": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth." + }, + { + "input": "molybdenum cofactor deficiency type b", + "output": "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mocs2 gene on chromosome 5q11." + }, + { + "input": "molybdenum cofactor deficiency type a", + "output": "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mocs1 gene on chromosome 6p21." + }, + { + "input": "molybdenum cofactor deficiency", + "output": "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage." + }, + { + "input": "molybdenum cofactor deficiency type c", + "output": "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the gphn gene on chromosome 14q23." + }, + { + "input": "dyggve-melchior-clausen disease", + "output": "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the dym gene on chromosome 18q21." + }, + { + "input": "sepiapterin reductase deficiency", + "output": "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the spr gene on chromosome 2p resulting in sepiapterin reductase deficiency." + }, + { + "input": "subcortical band heterotopia", + "output": "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex." + }, + { + "input": "autosomal dominant sensory ataxia 1", + "output": "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the rnf170 gene on chromosome 8." + }, + { + "input": "french canadian leigh disease", + "output": "A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in lrpprc on 2p21." + }, + { + "input": "familial hemiplegic migraine 1", + "output": "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in cacna1a on 19p13." + }, + { + "input": "familial hemiplegic migraine 2", + "output": "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in atp1a2 on 1q23.2." + }, + { + "input": "familial hemiplegic migraine 3", + "output": "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in scn1a on 2q24.3." + }, + { + "input": "myopathy, lactic acidosis, and sideroblastic anemia 3", + "output": "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in mtatp6 encoded by nucleotides 8527-9207 of the mitochondrial genome." + }, + { + "input": "myopathy, lactic acidosis, and sideroblastic anemia 1", + "output": "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in pus1 on 12q24." + }, + { + "input": "myopathy, lactic acidosis, and sideroblastic anemia 2", + "output": "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in yars2 on 12p11.21." + }, + { + "input": "distal myopathy with anterior tibial onset", + "output": "A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (dysf) on chromosome 2p13." + }, + { + "input": "myofibrillar myopathy 9", + "output": "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the ttn gene on chromosome 2q31." + }, + { + "input": "distal myopathy 3", + "output": "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the hnrnpa1 gene on chromosome 12q13." + }, + { + "input": "distal myopathy 4", + "output": "A distal myopathy that has_material_basis_in heterozygous mutation in flnc on 7q32." + }, + { + "input": "distal myopathy tateyama type", + "output": "A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (cav3) on chromosome 3p25." + }, + { + "input": "facioscapulohumeral muscular dystrophy 1", + "output": "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the d4z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35." + }, + { + "input": "facioscapulohumeral muscular dystrophy 2", + "output": "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the smchdi gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for dux4 expression." + }, + { + "input": "autosomal dominant adult-onset proximal spinal muscular atrophy", + "output": "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in vapb on 20q13." + }, + { + "input": "erythrokeratodermia variabilis et progressiva 1", + "output": "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in gjb3 on 1p34.3." + }, + { + "input": "x-linked distal spinal muscular atrophy 3", + "output": "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in atp7a on xq21.1." + }, + { + "input": "autosomal recessive distal hereditary motor neuronopathy", + "output": "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "autosomal dominant distal hereditary motor neuronopathy", + "output": "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "distal hereditary motor neuronopathy type 7", + "output": "An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis." + }, + { + "input": "distal hereditary motor neuronopathy type 1", + "output": "An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region." + }, + { + "input": "distal hereditary motor neuronopathy type 7a", + "output": "A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in slc5a7 on 2q12.3." + }, + { + "input": "distal hereditary motor neuronopathy type 7b", + "output": "A distal hereditary motor neuropathy type 7 that has_material_basis_in heterozygous mutation in dctn1 on 2p13.1." + }, + { + "input": "distal hereditary motor neuronopathy type 5", + "output": "An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis i eminences." + }, + { + "input": "distal hereditary motor neuronopathy type 5a", + "output": "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in gars on 7p14.3 or bscl2 on 11q12.3." + }, + { + "input": "distal hereditary motor neuronopathy type 5b", + "output": "A distal hereditary motor neuronopathy type 5 that has_material_basis_in heterozygous mutation in reep1 on 2p11.2." + }, + { + "input": "distal hereditary motor neuronopathy type 2", + "output": "An autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness." + }, + { + "input": "distal hereditary motor neuronopathy type 2b", + "output": "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in hspb1 on 7q11.23." + }, + { + "input": "distal hereditary motor neuronopathy type 2a", + "output": "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in hspb8 on 12q24.23." + }, + { + "input": "distal hereditary motor neuronopathy type 2c", + "output": "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in hspb3 on 5q11.2." + }, + { + "input": "distal hereditary motor neuronopathy type 2d", + "output": "A distal hereditary motor neuropathy type 2 that has_material_basis_in heterozygous mutation in fbxo38 on 5q32." + }, + { + "input": "distal spinal muscular atrophy type 3", + "output": "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cm region of chromosome 11q13.3." + }, + { + "input": "distal hereditary motor neuronopathy type 9", + "output": "An autosomal domiant distal hereditary motor neuronopathy characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in wars on 14q32.2." + }, + { + "input": "distal spinal muscular atrophy type 4", + "output": "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in plekhg5 on 1p36.31." + }, + { + "input": "distal spinal muscular atrophy type 5", + "output": "A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in dnajb2 on 2q35." + }, + { + "input": "distal hereditary motor neuronopathy type 8", + "output": "A autosomal dominant distal hereditary motor neuronopathy characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in trpv4 on 12q24.11." + }, + { + "input": "autosomal recessive centronuclear myopathy", + "output": "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "autosomal dominant centronuclear myopathy", + "output": "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "friedreich ataxia 1", + "output": "A friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in fxn on 9q21.1." + }, + { + "input": "friedreich ataxia 2", + "output": "A friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region." + }, + { + "input": "centronuclear myopathy 2", + "output": "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in bin1 on 2q14.3." + }, + { + "input": "centronuclear myopathy 6 with fiber-type disproportion", + "output": "An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the zak gene on 2q31.1." + }, + { + "input": "centronuclear myopathy 5", + "output": "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in speg on 2q35." + }, + { + "input": "centronuclear myopathy 1", + "output": "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in dnm2 on 19p13.2." + }, + { + "input": "centronuclear myopathy 4", + "output": "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in ccdc78 on 16p13.3." + }, + { + "input": "centronuclear myopathy x-linked", + "output": "A centronuclear myopathy that has_material_basis_in x-linked inheritance of mutations in mtm1 on xq28." + }, + { + "input": "x-linked congenital myopathy with fiber-type disproportion", + "output": "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region xq13.1-q22.1." + }, + { + "input": "chromosome 3-linked frontotemporal dementia", + "output": "A frontotemporal dementia that has_material_basis_in heterozygous mutation in chmp2b on 3p11.2." + }, + { + "input": "sveinsson chorioretinal atrophy", + "output": "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in tead1 on 11p15.3." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a", + "output": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a11", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in b3galnt2 on 1q42.3." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a8", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in pomgnt2 on 3p22.1." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a9", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in dag1 on 3p21.31." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy a14", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in in gmppb on 3p21.31." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy a7", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in ispd on 7p21.2-p21.1." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a12", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in pomk on 8p11.21." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a3", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in pomgnt1 on 1p34.1." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a1", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in pomt1 on 9q34.13." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a13", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in b4gat1 on 11q13.2." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a10", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in rxylt1 on 12q14.2." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a2", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in pomt2 on 14q24.3." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a5", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in fkrp on 19q13.32." + }, + { + "input": "congenital muscular dystrophy-dystroglycanopathy type a6", + "output": "A congenital muscular dystrophy-dystroglycanopathy type a that has_material_basis_in homozygous or compound heterozygous mutation in large on 22q12.3." + }, + { + "input": "acromicric dysplasia", + "output": "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in fbn1 on 15q21.1." + }, + { + "input": "palmoplantar keratoderma and congenital alopecia 1", + "output": "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in gja1 on 6q22.31." + }, + { + "input": "palmoplantar keratoderma and congenital alopecia 2", + "output": "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation." + }, + { + "input": "amyotrophic lateral sclerosis-parkinsonism/dementia complex 1", + "output": "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. susceptibility to this disease is influenced by heterozygous mutation in trpm7 on 15q21.2." + }, + { + "input": "hypertension and brachydactyly syndrome", + "output": "A syndrome characterized by brachydactyly type e, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in pde3a on 12p12.2." + }, + { + "input": "cerebrocostomandibular syndrome", + "output": "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in snrpb on 20p13." + }, + { + "input": "uveal coloboma-cleft lip and palate-intellectual disability", + "output": "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in yap1 on 11q22.1." + }, + { + "input": "parkinson's disease 3", + "output": "A late onset parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region." + }, + { + "input": "parkinson's disease 21", + "output": "A late onset parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years." + }, + { + "input": "vestibular schwannomatosis", + "output": "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the nf2 gene on chromosome 22q12.2. eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. this disease has been revised by international consensus. it was previously referred to as neurofibromatosis 2." + }, + { + "input": "neurofibromatosis 1", + "output": "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the nf1 gene on chromosome 17q11.2. bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone." + }, + { + "input": "glutaric acidemia i", + "output": "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the gcdh gene on chromosome 19p13." + }, + { + "input": "mckusick-kaufman syndrome", + "output": "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in mkks on 20p12.2." + }, + { + "input": "hyperferritinemia-cataract syndrome", + "output": "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of ftl on 19q13.33." + }, + { + "input": "gamma-glutamyl transpeptidase deficiency", + "output": "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in ggt1 on 22q11.23." + }, + { + "input": "pentosuria", + "output": "An amino acid metabolic disorder characterized by excretion of excess pentose l-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in dcxr on 17q25.3." + }, + { + "input": "postaxial acrofacial dysostosis", + "output": "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in dhodh on 16q22.2." + }, + { + "input": "phosphoribosylpyrophosphate synthetase superactivity", + "output": "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in x-linked recessive inheritance of mutations in prps1 on xq22.3 that result in increased activity of the gene. the mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset." + }, + { + "input": "fumarase deficiency", + "output": "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in fh on 1q43." + }, + { + "input": "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly", + "output": "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in med17 on 11q21." + }, + { + "input": "combined malonic and methylmalonic acidemia", + "output": "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in acsf3 on 16q24.3." + }, + { + "input": "ruijs-aalfs syndrome", + "output": "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in sprtn on 1q42.2." + }, + { + "input": "boucher-neuhauser syndrome", + "output": "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in pnpla6 on 19p13.2." + }, + { + "input": "geroderma osteodysplasticum", + "output": "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in gorab on 1q24.2." + }, + { + "input": "hyaline body myopathy", + "output": "A congenital myopathy characterized by accumulation of atpase and antibody positive myosin in hyaline subsarcolemmal bodies in type i muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in myh7 on 14q11.2." + }, + { + "input": "autosomal recessive hyaline body myopathy", + "output": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in myh7 on 14q11.2." + }, + { + "input": "autosomal dominant hyaline body myopathy", + "output": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in myh7 on 14q11.2." + }, + { + "input": "isolated sulfite oxidase deficiency", + "output": "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in suox on 12q13.2." + }, + { + "input": "oliver-mcfarlane syndrome", + "output": "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in pnpla6 on 19p13.2." + }, + { + "input": "occipital horn syndrome", + "output": "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in x-linked recessive inheritance of mutations in atp7a on xq21.1. this disorder is allelic to menkes disease." + }, + { + "input": "narp syndrome", + "output": "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene mtatp6." + }, + { + "input": "codas syndrome", + "output": "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in lonp1 on 19p13.3." + }, + { + "input": "speech-language disorder-1", + "output": "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in foxp2 on 7q31.1." + }, + { + "input": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", + "output": "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in polg on 15q26.1." + }, + { + "input": "mitochondrial trifunctional protein deficiency", + "output": "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; hadha or hadhb on 2p23.3." + }, + { + "input": "histiocytosis-lymphadenopathy plus syndrome", + "output": "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in slc29a3 on 10q22.1. this syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, h syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome." + }, + { + "input": "psoriasis 7", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes il23r." + }, + { + "input": "psoriasis 4", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21." + }, + { + "input": "psoriasis 15", + "output": "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the ap1s3 gene on chromosome 2q36.1." + }, + { + "input": "psoriasis 5", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21." + }, + { + "input": "psoriasis 3", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 4q." + }, + { + "input": "psoriasis 9", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34." + }, + { + "input": "psoriasis 11", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes il12b." + }, + { + "input": "psoriasis 1", + "output": "A psoriasis that has_material_basis_in variation in hla-c on chromosome 6p21.33." + }, + { + "input": "psoriasis 13", + "output": "A psoriasis that has_material_basis_in variation in the traf3ip2 gene on chromosome 6q21." + }, + { + "input": "psoriasis 8", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. this region overlaps one that is associated with inflammatory bowel disease 1 disease." + }, + { + "input": "psoriasis 10", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23." + }, + { + "input": "psoriasis 6", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes bsg." + }, + { + "input": "psoriasis 12", + "output": "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes rnf114." + }, + { + "input": "idiopathic generalized epilepsy 10", + "output": "An idiopathic generalized epilepsy that has_material_basis_in variation in the gabrd on chromosome 1p36.33." + }, + { + "input": "generalized epilepsy with febrile seizures plus 4", + "output": "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24." + }, + { + "input": "generalized epilepsy with febrile seizures plus 2", + "output": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in scn1a on chromosome 2q24.3." + }, + { + "input": "generalized epilepsy with febrile seizures plus 7", + "output": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in scn9a on chromosome 2q24.3." + }, + { + "input": "generalized epilepsy with febrile seizures plus 10", + "output": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in hcn1 on chromosome 5p12." + }, + { + "input": "familial febrile seizures", + "output": "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance." + }, + { + "input": "familial febrile seizures 8", + "output": "A familial febrile seizures that has_material_basis_in heterozygous mutation in the gabrg2 gene on chromosome 5q34." + }, + { + "input": "generalized epilepsy with febrile seizures plus 8", + "output": "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31." + }, + { + "input": "generalized epilepsy with febrile seizures plus 6", + "output": "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21." + }, + { + "input": "generalized epilepsy with febrile seizures plus 9", + "output": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in stx1b on chromosome 16p11.2." + }, + { + "input": "generalized epilepsy with febrile seizures plus 1", + "output": "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in scn1b on chromosome 19q13.11." + }, + { + "input": "familial febrile seizures 9", + "output": "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23." + }, + { + "input": "familial febrile seizures 10", + "output": "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33." + }, + { + "input": "familial febrile seizures 4", + "output": "A familial febrile seizures that has_material_basis_in heterozygous mutation the adgrv1 gene on chromosome 5q14.3." + }, + { + "input": "familial febrile seizures 5", + "output": "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24." + }, + { + "input": "familial febrile seizures 1", + "output": "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21." + }, + { + "input": "familial febrile seizures 11", + "output": "A familial febrile seizures that has_material_basis_in homozygous mutation in the cpa6 gene on chromosome 8p13.2." + }, + { + "input": "familial febrile seizures 6", + "output": "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2." + }, + { + "input": "familial febrile seizures 2", + "output": "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3." + }, + { + "input": "familial febrile seizures 7", + "output": "A familial febrile seizures that has_material_basis_in heterozygous mutation." + }, + { + "input": "idiopathic generalized epilepsy 11", + "output": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the clcn2 on chromosome 3q27.1." + }, + { + "input": "idiopathic generalized epilepsy 12", + "output": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the slc2a1 on chromosome 1p34.2." + }, + { + "input": "idiopathic generalized epilepsy 13", + "output": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the gabra1 on chromosome 5q34." + }, + { + "input": "idiopathic generalized epilepsy 14", + "output": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the slc12a5 on chromosome 20q13.12." + }, + { + "input": "idiopathic generalized epilepsy 15", + "output": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the rorb on chromosome 9q21.13." + }, + { + "input": "idiopathic generalized epilepsy 2", + "output": "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23." + }, + { + "input": "idiopathic generalized epilepsy 3", + "output": "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33." + }, + { + "input": "idiopathic generalized epilepsy 4", + "output": "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26." + }, + { + "input": "idiopathic generalized epilepsy 5", + "output": "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22." + }, + { + "input": "idiopathic generalized epilepsy 7", + "output": "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14." + }, + { + "input": "idiopathic generalized epilepsy 8", + "output": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the casr on chromosome 3q13.3-q21.1." + }, + { + "input": "idiopathic generalized epilepsy 9", + "output": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the cacnb4 on chromosome 2q23.3." + }, + { + "input": "juvenile absence epilepsy 1", + "output": "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in efhc1 on 6p12.2." + }, + { + "input": "juvenile myoclonic epilepsy 10", + "output": "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ick on chromosome 6p12.1." + }, + { + "input": "juvenile myoclonic epilepsy 3", + "output": "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21." + }, + { + "input": "juvenile myoclonic epilepsy 4", + "output": "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14." + }, + { + "input": "juvenile myoclonic epilepsy 9", + "output": "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36." + }, + { + "input": "pyridoxamine 5'-phosphate oxidase deficiency", + "output": "A vitamin metabolic disorder characterized by vitamin b6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in pnpo on 17q21.32." + }, + { + "input": "combined saposin deficiency", + "output": "A sphingolipidosis characterized by absence of expression of both isoforms of psap (sap1 and sap2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in psap on 10q22.1." + }, + { + "input": "intellectual disability-severe speech delay-mild dysmorphism syndrome", + "output": "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the foxp1 gene on chromosome 3p13." + }, + { + "input": "pitt-hopkins-like syndrome 2", + "output": "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the nrxn1 gene on chromosome 2p16.3." + }, + { + "input": "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome", + "output": "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in megf10 on chromosome 5q23.2." + }, + { + "input": "congenital leptin deficiency", + "output": "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in lep on chromosome 7q32.1." + }, + { + "input": "myopathy with extrapyramidal signs", + "output": "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the micu1 gene on chromosome 10q22.1." + }, + { + "input": "craniofacial-deafness-hand syndrome", + "output": "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the pax3 gene on chromosome 2q36.1." + }, + { + "input": "jackson-weiss syndrome", + "output": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the fgfr2 gene on chromosome 10q26.13." + }, + { + "input": "isolated elevated serum creatine phosphokinase levels", + "output": "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the cav3 gene on chromosome 3p25.3." + }, + { + "input": "vohwinkel syndrome", + "output": "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the gjb2 gene on chromosome 13q12.11." + }, + { + "input": "dominant optic atrophy plus syndrome", + "output": "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the opa1 gene on chromosome 3q29." + }, + { + "input": "primary failure of tooth eruption", + "output": "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the pthr1 gene on chromosome 3p21.31." + }, + { + "input": "dermatopathia pigmentosa reticularis", + "output": "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the krt14 gene on chromosome 17q21.2." + }, + { + "input": "lateral meningocele syndrome", + "output": "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the notch3 gene on chromosome 19p13.12." + }, + { + "input": "myeloproliferative disorder with eosinophilia", + "output": "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the etv6 and pdgfrb genes formed by a translocation from chromosome 12 to chromosome 5q32." + }, + { + "input": "transient bullous dermolysis of the newborn", + "output": "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in col7a1 on chromosome 3p21.31." + }, + { + "input": "epidermolysis bullosa simplex with mottled pigmentation", + "output": "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in krt5 on chromosome 12q13.13." + }, + { + "input": "epidermolysis bullosa with congenital localized absence of skin and deformity of nails", + "output": "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the col7a1 gene on chromosome 3p21.31." + }, + { + "input": "multiple epiphyseal dysplasia with myopia and deafness", + "output": "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the col2a1 gene on chromosome 12q13.11." + }, + { + "input": "hereditary desmoid disease", + "output": "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in apc on 5q22.2." + }, + { + "input": "laurin-sandrow syndrome", + "output": "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a shh regulatory element located in intron 5 of the lmbr1 gene on chromosome 7q36.3." + }, + { + "input": "d-2-hydroxyglutaric aciduria 1", + "output": "A d-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in d2hgdh on 2q37.3." + }, + { + "input": "d-2-hydroxyglutaric aciduria 2", + "output": "A d-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in idh2 on 15q26.1." + }, + { + "input": "arthrogryposis, renal dysfunction, and cholestasis 1", + "output": "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in vps33b on 15q26.1." + }, + { + "input": "arthrogryposis, renal dysfunction, and cholestasis 2", + "output": "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in vipas39 on 14q24.3." + }, + { + "input": "hydrolethalus syndrome 1", + "output": "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the hyls1 gene on chromosome 11q24.2." + }, + { + "input": "hydrolethalus syndrome 2", + "output": "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the kif7 gene on chromosome 15q26.1." + }, + { + "input": "adermatoglyphia", + "output": "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the smarcad1 gene on chromosome 4q22.3." + }, + { + "input": "floating-harbor syndrome", + "output": "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the srcap gene on chromosome 16p11.2." + }, + { + "input": "large congenital melanocytic nevus", + "output": "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the nras gene on chromosome 11p15.5." + }, + { + "input": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", + "output": "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the sox18 gene on chromosome 20q13.33." + }, + { + "input": "hypotrichosis-lymphedema-telangiectasia syndrome", + "output": "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the sox18 gene on chromosome 20q13.33." + }, + { + "input": "hawkinsinuria", + "output": "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in hpd on chromosome 12q24.31." + }, + { + "input": "heinz body anemia", + "output": "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of dacie type i with heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the hba1, hba2 or hbb genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively." + }, + { + "input": "alzheimer's disease 9", + "output": "An alzheimer's disease that has_material_basis_in heterozygous mutation in the abca7 gene on chromosome 19p13.3." + }, + { + "input": "benign familial hematuria", + "output": "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the col4a3 gene or the col4a4 gene on chromosome 2q36.3." + }, + { + "input": "familial hepatic adenoma", + "output": "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the hnf1a gene on chromosome 12q24.31." + }, + { + "input": "beukes hip dysplasia", + "output": "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in ufsp2 on chromosome 4q35.1." + }, + { + "input": "cholesterol-ester transfer protein deficiency", + "output": "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood." + }, + { + "input": "hyperalphalipoproteinemia 1", + "output": "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the cetp gene on chromosome 16q13." + }, + { + "input": "apolipoprotein c-iii deficiency", + "output": "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the apoc3 gene on chromosome 11q23.3." + }, + { + "input": "isolated hyperchlorhidrosis", + "output": "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the ca12 gene on chromosome 15q22.2." + }, + { + "input": "familial progressive hyperpigmentation with or without hypopigmentation", + "output": "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the kitlg gene on chromosome 12q21.32." + }, + { + "input": "selective pituitary thyroid hormone resistance", + "output": "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the thrb gene on chromosome 3p24.2." + }, + { + "input": "fetal akinesia deformation sequence syndrome", + "output": "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction." + }, + { + "input": "fetal akinesia deformation sequence syndrome 3", + "output": "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the dok7 gene on chromosome 4p16.3." + }, + { + "input": "fetal akinesia deformation sequence syndrome 1", + "output": "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the musk gene on chromosome 9q31.3." + }, + { + "input": "fetal akinesia deformation sequence syndrome 2", + "output": "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the rapsn gene on chromosome 11p11.2." + }, + { + "input": "fetal akinesia deformation sequence syndrome 4", + "output": "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the nup88 gene on chromosome 17p13.2." + }, + { + "input": "solitary median maxillary central incisor", + "output": "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in shh on chromosome 7q36.3." + }, + { + "input": "ivic syndrome", + "output": "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the sall4 gene on chromosome 20q13.2." + }, + { + "input": "ischiocoxopodopatellar syndrome", + "output": "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the tbx4 gene on chromosome 17q23.2." + }, + { + "input": "autosomal dominant keratitis", + "output": "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the pax6 gene on chromosome 11p13." + }, + { + "input": "inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2", + "output": "An inclusion body myopathy with paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in hnrpa2b1 on 7p15.2." + }, + { + "input": "inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1", + "output": "An inclusion body myopathy with paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in vcp on chromosome 9p13.3." + }, + { + "input": "inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3", + "output": "An inclusion body myopathy with paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the hnrnpa1 gene on chromosome 12q13.13." + }, + { + "input": "familial isolated hypoparathyroidism", + "output": "A hypoparathyroidism that has_material_basis_in mutation in pth on chromosome 6p24.2 or in the gcm2 gene on chromosome 11p15.3." + }, + { + "input": "x-linked hypoparathyroidism", + "output": "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome xq27.1 that appears to alter expression of sox3." + }, + { + "input": "mucopolysaccharidosis ih/s", + "output": "A mucopolysaccharidosis i characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the idua gene on chromosome 4p16.3." + }, + { + "input": "mucopolysaccharidosis ih", + "output": "A mucopolysaccharidosis i characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the idua gene on chromosome 4p16.3." + }, + { + "input": "mucopolysaccharidosis iva", + "output": "A mucopolysaccharidosis iv characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the galns gene on chromosome 16q24.3." + }, + { + "input": "mucopolysaccharidosis type ivb", + "output": "A mucopolysaccharidosis iv characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the glb1 gene on chromosome 3p22.3." + }, + { + "input": "mucopolysaccharidosis type iiic", + "output": "A mucopolysaccharidosis iii that has_material_basis_in homozygous or compound heterozygous mutation in the hgsnat gene on chromosome 8p11.2-p11.1." + }, + { + "input": "mucopolysaccharidosis type iiib", + "output": "A mucopolysaccharidosis iii characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in naglu on chromosome 17q21.2." + }, + { + "input": "mucopolysaccharidosis type iiia", + "output": "A mucopolysaccharidosis iii characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis iii that has_material_basis_in homozygous or compound heterozygous mutation in the sgsh gene on chromosome 17q25.3." + }, + { + "input": "congenital dyserythropoietic anemia type i", + "output": "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis." + }, + { + "input": "congenital dyserythropoietic anemia type ib", + "output": "A congenital dyserythropoietic anemia type i that has_material_basis_in homozygous or compound heterozygous mutation in c15orf41 on chromosome 15q14." + }, + { + "input": "congenital dyserythropoietic anemia type ia", + "output": "A congenital dyserythropoietic anemia type i that has_material_basis_in homozygous or compound heterozygous mutation in the cdan1 gene on chromosome 15q15.2." + }, + { + "input": "congenital dyserythropoietic anemia type iii", + "output": "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cm interval within chromosome 15q21-q25." + }, + { + "input": "congenital dyserythropoietic anemia type iv", + "output": "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the klf1 gene on chromosome 19p13.13." + }, + { + "input": "congenital dyserythropoietic anemia type ii", + "output": "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the sec23b gene on chromosome 20p11.23." + }, + { + "input": "mucopolysaccharidosis type iiid", + "output": "A mucopolysaccharidosis iii that has_material_basis_in homozygous or compound heterozygous mutation in gns on chromosome 12q14.3." + }, + { + "input": "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations", + "output": "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the mast1 gene on chromosome 19p13.13." + }, + { + "input": "jalili syndrome", + "output": "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in cnnm4 on chromosome 2q11.2." + }, + { + "input": "fraser syndrome 1", + "output": "A fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the fras1 gene on chromosome 4q21.21." + }, + { + "input": "fraser syndrome 3", + "output": "A fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the grip1 gene on chromosome 12q14.3." + }, + { + "input": "fraser syndrome 2", + "output": "A fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the frem2 gene on chromosome 13q13.3." + }, + { + "input": "exudative vitreoretinopathy 5", + "output": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the tspan12 gene on chromosome 7q31.31." + }, + { + "input": "exudative vitreoretinopathy 3", + "output": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12." + }, + { + "input": "exudative vitreoretinopathy 6", + "output": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the znf408 gene on chromosome 11p11.2." + }, + { + "input": "exudative vitreoretinopathy 4", + "output": "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the lrp5 gene on chromosome 11q13.2." + }, + { + "input": "exudative vitreoretinopathy 1", + "output": "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the fzd4 gene on chromosome 11q14.2." + }, + { + "input": "x-linked exudative vitreoretinopathy 2", + "output": "An exudative vitreoretinopathy that has_material_basis_in mutation in ndp on chromosome xp11.3." + }, + { + "input": "trichohepatoenteric syndrome", + "output": "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the ski complex." + }, + { + "input": "trichohepatoenteric syndrome 1", + "output": "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ttc37 gene on chromosome 5q15." + }, + { + "input": "trichohepatoenteric syndrome 2", + "output": "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the skiv2l gene on chromosome 6p21.33." + }, + { + "input": "familial chylomicronemia syndrome", + "output": "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia." + }, + { + "input": "familial apolipoprotein c-ii deficiency", + "output": "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the apoc2 gene on chromosome 19q13.32." + }, + { + "input": "familial chylomicronemia due to inhibition of lipoprotein lipase activity", + "output": "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase." + }, + { + "input": "familial gpihbp1 deficiency", + "output": "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the gpihbp1 gene on chromosome 8q24.3." + }, + { + "input": "familial apolipoprotein a5 deficiency", + "output": "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased ldl and hdl levels after fasting that has_material_basis_in heterozygous mutation in the apoa5 gene on chromosome 11q23.3." + }, + { + "input": "familial lipase maturation factor 1 deficiency", + "output": "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the lmf1 gene on chromosome 16p13.3." + }, + { + "input": "branchiootorenal syndrome 1", + "output": "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the eya1 gene on chromosome 8q13.3." + }, + { + "input": "branchiootorenal syndrome 2", + "output": "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the six5 gene on chromosome 19q13.32." + }, + { + "input": "restrictive cardiomyopathy 1", + "output": "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the tnni3 gene on chromosome 19q13.42." + }, + { + "input": "restrictive cardiomyopathy 2", + "output": "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3." + }, + { + "input": "restrictive cardiomyopathy 3", + "output": "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the tnnt2 gene on chromosome 1q32.1." + }, + { + "input": "essential tremor 1", + "output": "An essential tremor that has_material_basis_in heterozygous mutation in the drd3 gene on chromosome 3q13.31." + }, + { + "input": "essential tremor 2", + "output": "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22." + }, + { + "input": "essential tremor 3", + "output": "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23." + }, + { + "input": "essential tremor 4", + "output": "An essential tremor that has_material_basis_in heterozygous mutation in fus on chromosome 16p11.2." + }, + { + "input": "essential tremor 5", + "output": "An essential tremor that has_material_basis_in heterozygous mutation in the tenm4 gene on chromosome 11q14.1." + }, + { + "input": "optic atrophy 3", + "output": "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the opa3 gene on chromosome 19q13.32." + }, + { + "input": "optic atrophy 10", + "output": "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the rtn4ip1 gene on chromosome 6q21." + }, + { + "input": "optic atrophy 6", + "output": "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22." + }, + { + "input": "optic atrophy 11", + "output": "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the yme1l1 gene on chromosome 10p12.1." + }, + { + "input": "optic atrophy 7", + "output": "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the tmem126a gene on chromosome 11q14.1." + }, + { + "input": "optic atrophy 5", + "output": "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in dnm1l on chromosome 12p11.21." + }, + { + "input": "optic atrophy 8", + "output": "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22." + }, + { + "input": "optic atrophy 4", + "output": "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3." + }, + { + "input": "optic atrophy 1", + "output": "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the opa1 gene on chromosome 3q29." + }, + { + "input": "optic atrophy 9", + "output": "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the aco2 gene on chromosome 22q13.2." + }, + { + "input": "optic atrophy 2", + "output": "An optic atrophy that has_material_basis_in variation in a region on chromosome xp11.4-p11.21." + }, + { + "input": "progressive myoclonus epilepsy 4", + "output": "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the scarb2 gene on chromosome 4q21.1." + }, + { + "input": "progressive myoclonus epilepsy 10", + "output": "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the prdm8 gene on chromosome 4q21.21." + }, + { + "input": "progressive myoclonus epilepsy 3", + "output": "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the kctd7 gene on chromosome 7q11.21." + }, + { + "input": "progressive myoclonus epilepsy 7", + "output": "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the kcnc1 gene on chromosome 11p15.1." + }, + { + "input": "progressive myoclonus epilepsy 1b", + "output": "An unverricht-lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the prickle1 gene on chromosome 12q12." + }, + { + "input": "progressive myoclonus epilepsy 6", + "output": "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the gosr2 gene on chromosome 17q21.32." + }, + { + "input": "progressive myoclonus epilepsy 9", + "output": "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the lmnb2 gene on chromosome 19p13.3." + }, + { + "input": "progressive myoclonus epilepsy 8", + "output": "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in cers1 on chromosome 19p13.11." + }, + { + "input": "progressive myoclonus epilepsy 1a", + "output": "An unverricht-lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the cstb gene on chromosome 21q22.3." + }, + { + "input": "2-aminoadipic 2-oxoadipic aciduria", + "output": "An amino acid metabolic disorder characterized by defects in l-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the dhtkd1 gene on chromosome 10p14." + }, + { + "input": "short syndrome", + "output": "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the pik3r1 gene on chromosome 5q13." + }, + { + "input": "gracile syndrome", + "output": "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the bcs1l gene on chromosome 2q35." + }, + { + "input": "kaufman oculocerebrofacial syndrome", + "output": "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in the ube3b gene on chromosome 12q24.11." + }, + { + "input": "sting-associated vasculopathy with onset in infancy", + "output": "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the tmem173 gene on chromosome 5q31." + }, + { + "input": "galactose epimerase deficiency", + "output": "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the gale gene on chromosome 1p36.11." + }, + { + "input": "classic galactosemia", + "output": "A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the galt gene on chromosome 9p13.3." + }, + { + "input": "cardiofaciocutaneous syndrome 1", + "output": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the braf gene on chromosome 7q34." + }, + { + "input": "cardiofaciocutaneous syndrome 2", + "output": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the kras gene on chromosome 12p12.1." + }, + { + "input": "cardiofaciocutaneous syndrome 3", + "output": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the map2k1 gene on chromosome 15q22.31." + }, + { + "input": "cardiofaciocutaneous syndrome 4", + "output": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the mapk2k2 gene on chromosome 19p13.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 35", + "output": "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the trit1 gene on chromosome 1p34.2." + }, + { + "input": "combined oxidative phosphorylation deficiency 21", + "output": "A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the tars2 gene on chromosome 1q21.2." + }, + { + "input": "combined oxidative phosphorylation deficiency 38", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mrps14 gene on chromosome 1q25.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 13", + "output": "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the pnpt1 gene on chromosome 2p16.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 25", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mars2 gene on chromosome 2q33.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 16", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the mrpl44 gene on chromosome 2q36.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 28", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the slc25a26 gene on chromosome 3p14.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 30", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the trmt10c gene on chromosome 3q12.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 9", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mrpl3 gene on chromosome 3q22.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 5", + "output": "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the mrps22 gene on chromosome 3q23." + }, + { + "input": "combined oxidative phosphorylation deficiency 1", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gfm1 gene on chromosome 3q25.32." + }, + { + "input": "combined oxidative phosphorylation deficiency 39", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gfm2 gene on chromosome 5q13.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 19", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the lyrm4 gene on chromosome 6p25.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 14", + "output": "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the fars2 gene on chromosome 6p25.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 20", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the vars2 gene on chromosome 6p21.33." + }, + { + "input": "combined oxidative phosphorylation deficiency 8", + "output": "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the aars2 gene on chromosome 6p21.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 10", + "output": "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the mto1 gene on chromosome 6q13." + }, + { + "input": "combined oxidative phosphorylation deficiency 11", + "output": "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the rmnd1 gene on chromosome 6q25.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 36", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mrps2 gene on chromosome 9q34.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 2", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mrps16 gene on chromosome 10q22.2." + }, + { + "input": "combined oxidative phosphorylation deficiency 18", + "output": "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the sfxn4 gene on chromosome 10q26.11." + }, + { + "input": "combined oxidative phosphorylation deficiency 24", + "output": "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the nars2 gene on chromosome 11q14.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 3", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the tsfm gene on chromosome 12q14.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 7", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in c12orf65 on chromosome 12q24.31." + }, + { + "input": "combined oxidative phosphorylation deficiency 31", + "output": "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the mipep gene on chromosome 13q12.12." + }, + { + "input": "combined oxidative phosphorylation deficiency 27", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the cars2 gene on chromosome 13q34." + }, + { + "input": "combined oxidative phosphorylation deficiency 26", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the trmt5 gene on chromosome 14q23.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 15", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the mtfmt gene on chromosome 15q22.31." + }, + { + "input": "combined oxidative phosphorylation deficiency 32", + "output": "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the mrps34 gene on chromosome 16p13.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 12", + "output": "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the ears2 gene on chromosome 16p12.2." + }, + { + "input": "combined oxidative phosphorylation deficiency 4", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the tufm gene on chromosome 16p11.2." + }, + { + "input": "combined oxidative phosphorylation deficiency 33", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the c1qbp gene on chromosome 17p13.2." + }, + { + "input": "combined oxidative phosphorylation deficiency 17", + "output": "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the elac2 gene on chromosome 17p12." + }, + { + "input": "combined oxidative phosphorylation deficiency 34", + "output": "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the mrps7 gene on chromosome 17q25.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 22", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the atp5a1 gene on chromosome 18q21.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 37", + "output": "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in micos13 on chromosome 19p13.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 23", + "output": "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the gtpbp3 gene on chromosome 19p13.11." + }, + { + "input": "combined oxidative phosphorylation deficiency 29", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the txn2 gene on chromosome 22q12.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 6", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the aifm1 gene on chromosome xq26.1." + }, + { + "input": "li-fraumeni syndrome 1", + "output": "A li-fraumeni syndrome that has_material_basis_in heterozygous mutation in the tp53 gene on chromosome 17p13.1." + }, + { + "input": "li-fraumeni syndrome 2", + "output": "A li-fraumeni syndrome that has_material_basis_in heterozygous mutation in the chek2 gene on chromosome 22q12.1." + }, + { + "input": "palmoplantar keratoderma-deafness syndrome", + "output": "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the gjb2 gene on chromosome 13q12.11." + }, + { + "input": "palmoplantar keratoderma-esophageal carcinoma syndrome", + "output": "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the rhbdf2 gene on chromosome 17q25.1." + }, + { + "input": "lenz-majewski hyperostotic dwarfism", + "output": "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the ptdss1 gene on chromosome 8q22.1." + }, + { + "input": "torrance type platyspondylic dysplasia", + "output": "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the col2a1 gene on chromosome 12q13.11." + }, + { + "input": "lymphedema-distichiasis syndrome", + "output": "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the foxc2 gene on chromosome 16q24.1." + }, + { + "input": "marshall syndrome", + "output": "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the col11a1 gene on chromosome 1p21.1. mutations, typically null, in the col11a1 gene may also cause stickler syndrome." + }, + { + "input": "melanoma and neural system tumor syndrome", + "output": "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the cdkn2a gene on chromosome 9p21.3." + }, + { + "input": "metachondromatosis", + "output": "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the ptpn11 gene on chromosome 12q24.13." + }, + { + "input": "metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome", + "output": "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the runx2 gene on chromosome 6p21.1." + }, + { + "input": "metatropic dysplasia", + "output": "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the trpv4 gene on chromosome 12q24.11." + }, + { + "input": "autosomal recessive progressive external ophthalmoplegia with mitochondrial dna deletions 2", + "output": "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the rnaseh1 gene on chromosome 2p25.3." + }, + { + "input": "autosomal recessive progressive external ophthalmoplegia with mitochondrial dna deletions 4", + "output": "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the dguok gene on chromosome 2p13.1." + }, + { + "input": "autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 2", + "output": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the slc25a4 gene on chromosome 4q35.1." + }, + { + "input": "autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 5", + "output": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the rrm2b gene on chromosome 8q22.3." + }, + { + "input": "autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 6", + "output": "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtdna deletions that has_material_basis_in heterozygous mutation in the dna2 gene on chromosome 10q21.3." + }, + { + "input": "autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 3", + "output": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the twnk gene on chromosome 10q24.31." + }, + { + "input": "autosomal dominant progressive external ophthalmoplegia 1", + "output": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the polg gene on chromosome 15q26.1." + }, + { + "input": "autosomal recessive progressive external ophthalmoplegia 1", + "output": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the polg gene on chromosome 15q26.1." + }, + { + "input": "autosomal recessive progressive external ophthalmoplegia with mitochondrial dna deletions 3", + "output": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in tk2 on chromosome 16q21." + }, + { + "input": "autosomal recessive progressive external ophthalmoplegia with mitochondrial dna deletions 5", + "output": "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the top3a gene on chromosome 17p11.2." + }, + { + "input": "autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 4", + "output": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the polg2 gene on chromosome 17q23.3." + }, + { + "input": "mullerian aplasia and hyperandrogenism", + "output": "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the wnt4 gene on chromosome 1p36.12." + }, + { + "input": "spinal muscular atrophy with progressive myoclonic epilepsy", + "output": "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the asah1 gene on chromosome 8p22." + }, + { + "input": "naegeli-franceschetti-jadassohn syndrome", + "output": "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the krt14 gene on chromosome 17q21.2." + }, + { + "input": "familial multiple nevi flammei", + "output": "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover." + }, + { + "input": "linear nevus sebaceous syndrome", + "output": "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the nras, hras, or kras genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively." + }, + { + "input": "bilateral optic nerve hypoplasia", + "output": "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the pax6 gene on chromosome 11p13." + }, + { + "input": "osteoglophonic dysplasia", + "output": "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the fgfr1 gene on chromosome 8p11.23." + }, + { + "input": "gnathodiaphyseal dysplasia", + "output": "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ano5 gene on chromosome 11p14.3." + }, + { + "input": "multicentric carpotarsal osteolysis syndrome", + "output": "A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the mafb gene on chromosome 20q12." + }, + { + "input": "progressive osseous heteroplasia", + "output": "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the gs-alpha isoform of the gnas gene on chromosome 20q13.32." + }, + { + "input": "buschke-ollendorff syndrome", + "output": "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the lemd3 gene on chromosome 12q14.3." + }, + { + "input": "paroxysmal extreme pain disorder", + "output": "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the scn9a gene on chromosome 2q24.3." + }, + { + "input": "paramyotonia congenita of von eulenburg", + "output": "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the scn4a gene on chromosome 17q23.3." + }, + { + "input": "parastremmatic dwarfism", + "output": "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the trpv4 gene on chromosome 12q24.11." + }, + { + "input": "prolidase deficiency", + "output": "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the pepd gene on chromosome 19q13.11." + }, + { + "input": "pigmented paravenous chorioretinal atrophy", + "output": "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the crb1 gene on chromosome 1q31.3." + }, + { + "input": "familial expansile osteolysis", + "output": "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the tnfrsf11a gene on chromosome 18q21.33." + }, + { + "input": "juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome", + "output": "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the smad4 gene on chromosome 18q21.2." + }, + { + "input": "guttmacher syndrome", + "output": "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the hoxa13 gene on chromosome 7p15.2." + }, + { + "input": "familial male-limited precocious puberty", + "output": "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the lhcgr gene on chromosome 2p16.3." + }, + { + "input": "currarino syndrome", + "output": "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in hlxb9 on chromosome 7q36.3." + }, + { + "input": "retinal arterial tortuosity", + "output": "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the col4a1 gene on chromosome 13q34." + }, + { + "input": "ring dermoid of cornea", + "output": "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the pitx2 gene on chromosome 4q25." + }, + { + "input": "aplasia of lacrimal and salivary glands", + "output": "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the fgf10 gene on chromosome 5p12." + }, + { + "input": "scalp-ear-nipple syndrome", + "output": "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the kctd1 gene on chromosome 18q11.2." + }, + { + "input": "neurogenic scapuloperoneal syndrome kaeser type", + "output": "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in des on chromosome 2q35." + }, + { + "input": "scapuloperoneal spinal muscular atrophy", + "output": "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the trpv4 gene on chromosome 12q24.11." + }, + { + "input": "spondyloepiphyseal dysplasia maroteaux type", + "output": "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the trpv4 gene on chromosome 12q24.11." + }, + { + "input": "spondylometaphyseal dysplasia kozlowski type", + "output": "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the trpv4 gene on chromosome 12q24.11." + }, + { + "input": "alkuraya-kucinskas syndrome", + "output": "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the kiaa1109 gene on chromosome 4q27." + }, + { + "input": "steatocystoma multiplex", + "output": "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the krt17 gene on chromosome 17q21.2." + }, + { + "input": "charcot-marie-tooth disease type 2a2b", + "output": "A charcot-marie-tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the mfn2 gene on chromosome 1p36.22." + }, + { + "input": "charcot-marie-tooth disease type 2dd", + "output": "A charcot-marie-tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the atp1a1 gene on chromosome 1p13.1." + }, + { + "input": "charcot-marie-tooth disease type 2ee", + "output": "A charcot-marie-tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the mpv17 gene on chromosome 2p23.3." + }, + { + "input": "charcot-marie-tooth disease type 1g", + "output": "A charcot-marie-tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the pmp2 gene on chromosome 8q21.13." + }, + { + "input": "stiff skin syndrome", + "output": "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the fbn1 gene on chromosome 15q21.1." + }, + { + "input": "overhydrated hereditary stomatocytosis", + "output": "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the rhag gene on chromosome 6p12.3." + }, + { + "input": "sturge-weber syndrome", + "output": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the gnaq gene on chromosome 9q21.2." + }, + { + "input": "hypoplastic or aplastic tibia with polydactyly", + "output": "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the shh regulatory region (zrs) located in intron 5 of the lmbr1 gene on chromosome 7q36.3." + }, + { + "input": "trichodontoosseous syndrome", + "output": "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the dlx3 gene on chromosome 17q21.33." + }, + { + "input": "familial isolated trichomegaly", + "output": "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in the fgf5 gene on chromosome 4q21.21." + }, + { + "input": "retinal vasculopathy with cerebral leukodystrophy", + "output": "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in trex1 on chromosome 3p21.31." + }, + { + "input": "congenital vertical talus", + "output": "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the hoxd10 gene on chromosome 2q31.1." + }, + { + "input": "autosomal dominant vitreoretinochoroidopathy", + "output": "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the best1 gene on chromosome 11q12.3." + }, + { + "input": "snowflake vitreoretinal degeneration", + "output": "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in kcnj13 on chromosome 2q37.1." + }, + { + "input": "weyers acrofacial dysostosis", + "output": "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes evc2 or evc on chromosome 4p16.2." + }, + { + "input": "familial woolly hair syndrome", + "output": "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends." + }, + { + "input": "autosomal dominant woolly hair", + "output": "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the krt74 gene on chromosome 12q13.13." + }, + { + "input": "autosomal recessive woolly hair 3", + "output": "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the krt24 gene on chromosome 17q21.2." + }, + { + "input": "dehydrated hereditary stomatocytosis", + "output": "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes." + }, + { + "input": "dehydrated hereditary stomatocytosis 1", + "output": "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the piezo1 gene on chromosome 16q24.3." + }, + { + "input": "dehydrated hereditary stomatocytosis 2", + "output": "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the kcnn4 gene on chromosome 19q13.31." + }, + { + "input": "gillespie syndrome", + "output": "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the itpr1 gene on chromosome 3p26.1." + }, + { + "input": "asthma, nasal polyps, and aspirin intolerance", + "output": "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps." + }, + { + "input": "behr syndrome", + "output": "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the opa1 gene on chromosome 3q29." + }, + { + "input": "c syndrome", + "output": "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the cd96 gene on chromosome 3q13.1-q13.2." + }, + { + "input": "hereditary arterial and articular multiple calcification syndrome", + "output": "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the nt5e gene on chromosome 6q14.3." + }, + { + "input": "carboxypeptidase n deficiency", + "output": "A plasma protein metabolism disease characterized by low levels of carboxypeptidase n in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the cpn1 gene on chromosome 10q24.2." + }, + { + "input": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", + "output": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the lmna gene on chromosome 1q22." + }, + { + "input": "carnitine-acylcarnitine translocase deficiency", + "output": "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the slc25a20 gene on chromosome 3p21.31." + }, + { + "input": "martsolf syndrome", + "output": "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the rab3gap2 gene on chromosome 1q41." + }, + { + "input": "gordon holmes syndrome", + "output": "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the rnf216 gene on chromosome 7p22.1." + }, + { + "input": "greenberg dysplasia", + "output": "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in lbr on chromosome 1q42.12." + }, + { + "input": "coach syndrome", + "output": "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (tmem67, cc2d2a, rpgrip1l)." + }, + { + "input": "cohen syndrome", + "output": "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the vps13b gene on chromosome 8q22.2." + }, + { + "input": "congenital heart defects, hamartomas of tongue, and polysyndactyly", + "output": "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the wdpcp gene on chromosome 2p15." + }, + { + "input": "plasminogen deficiency type i", + "output": "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in plg on chromosome 6q26." + }, + { + "input": "distal arthrogryposis type 10", + "output": "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1." + }, + { + "input": "distal arthrogryposis type 5d", + "output": "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ecel1 gene on chromosome 2q37.1." + }, + { + "input": "congenital contractural arachnodactyly", + "output": "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the fbn2 gene on chromosome 5q23.3." + }, + { + "input": "distal arthrogryposis type 1", + "output": "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies." + }, + { + "input": "distal arthrogryposis type 1a", + "output": "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the tpm2 gene on chromosome 9p13.3." + }, + { + "input": "distal arthrogryposis type 1b", + "output": "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the mybpc1 gene on chromosome 12q23.2." + }, + { + "input": "distal arthrogryposis type 2b", + "output": "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate." + }, + { + "input": "distal arthrogryposis type 2b1", + "output": "A distal arthrogryposis type 2b that has_material_basis_in heterozygous mutation in the tnni2 gene on chromosome 11p15.5." + }, + { + "input": "distal arthrogryposis type 2b2", + "output": "A distal arthrogryposis type 2b that has_material_basis_in heterozygous mutation in the tnnt3 gene on chromosome 11p15.5." + }, + { + "input": "distal arthrogryposis type 2b3", + "output": "A distal arthrogryposis type 2b that has_material_basis_in heterozygous mutation in the myh3 gene on chromosome 17p13.1." + }, + { + "input": "distal arthrogryposis type 7", + "output": "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the myh8 gene on chromosome 17p13.1." + }, + { + "input": "freeman-sheldon syndrome", + "output": "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures." + }, + { + "input": "distal arthrogryposis type 2a", + "output": "A freeman-sheldon syndrome that has_material_basis_in heterozygous mutation in the myh3 gene on chromosome 17p13.1." + }, + { + "input": "autosomal recessive whistling face syndrome", + "output": "A freeman-sheldon syndrome that has autosomal recessive inheritance." + }, + { + "input": "distal arthrogryposis type 3", + "output": "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the piezo2 gene on chromosome 18p11.22-p11.21." + }, + { + "input": "distal arthrogryposis type 5", + "output": "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the piezo2 gene on chromosome 18p11.22-p11.21." + }, + { + "input": "distal arthrogryposis type 6", + "output": "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness." + }, + { + "input": "distal arthrogryposis type 4", + "output": "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 4", + "output": "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the vps13d gene on chromosome 1p36.22-p36.21." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 3", + "output": "An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 23", + "output": "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the tdp2 gene on chromosome 6p22.3." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 22", + "output": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the vwa3b gene on chromosome 2q11.2." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 24", + "output": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the uba5 gene on chromosome 3q22.1." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 27", + "output": "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the gdap2 gene on chromosome 1p12." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 6", + "output": "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13." + }, + { + "input": "autosomal recessive spinocerebellar ataxia 8", + "output": "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in syne1 on chromosome 6q25.2." + }, + { + "input": "combined d-2- and l-2-hydroxyglutaric aciduria", + "output": "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the slc25a1 gene on chromosome 22q11.21." + }, + { + "input": "corneal dystrophy-perceptive deafness syndrome", + "output": "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the slc4a11 gene on chromosome 20p13." + }, + { + "input": "temtamy syndrome", + "output": "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the c12orf57 gene on chromosome 12p13.31." + }, + { + "input": "acth-independent macronodular adrenal hyperplasia", + "output": "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol." + }, + { + "input": "acth-independent macronodular adrenal hyperplasia 1", + "output": "An acth-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the gnas gene on chromosome 20q13.32." + }, + { + "input": "acth-independent macronodular adrenal hyperplasia 2", + "output": "An acth-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the armc5 gene on chromosome 16p11.2." + }, + { + "input": "ventriculomegaly - cystic kidney disease", + "output": "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the crb2 gene on chromosome 9q33.3." + }, + { + "input": "d-glyceric aciduria", + "output": "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of d-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the glyctk gene on chromosome 3p21.2." + }, + { + "input": "doors syndrome", + "output": "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the tbc1d24 gene on chromosome 16p13.3." + }, + { + "input": "high myopia-sensorineural deafness syndrome", + "output": "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the slitrk6 gene on chromosome 13q31.1." + }, + { + "input": "dihydropyrimidinase deficiency", + "output": "A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the dpys gene on chromosome 8q22.3." + }, + { + "input": "familial erythrocytosis 8", + "output": "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the bpgm gene on chromosome 7q33." + }, + { + "input": "familial erythrocytosis 7", + "output": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the hba2 or hba1 gene on chromosome 16p13.3." + }, + { + "input": "familial erythrocytosis 6", + "output": "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in hbb on chromosome 11p15.4." + }, + { + "input": "congenital sucrase-isomaltase deficiency", + "output": "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in si on chromosome 3q26.1." + }, + { + "input": "autosomal recessive nonsyndromic deafness 99", + "output": "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the tmem132e gene on chromosome 17q12." + }, + { + "input": "autosomal recessive nonsyndromic deafness 57", + "output": "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the pdzd7 gene on chromosome 10q24.31." + }, + { + "input": "autosomal recessive nonsyndromic deafness 113", + "output": "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the ceacam16 gene on chromosome 19q13." + }, + { + "input": "autosomal recessive nonsyndromic deafness 112", + "output": "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the bdp1 gene on chromosome 5q13.2." + }, + { + "input": "autosomal recessive nonsyndromic deafness 100", + "output": "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the ppip5k2 gene on chromosome 5q21.1." + }, + { + "input": "autosomal recessive nonsyndromic deafness 109", + "output": "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the esrp1 gene on chromosome 8q22.1." + }, + { + "input": "autosomal recessive nonsyndromic deafness 111", + "output": "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the mpzl2 gene on chromosome 11q23.33." + }, + { + "input": "autosomal recessive nonsyndromic deafness 94", + "output": "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the nars2 gene on chromosome 11q14.1." + }, + { + "input": "autosomal recessive nonsyndromic deafness 114", + "output": "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the grap gene on chromosome 17p11.2." + }, + { + "input": "autosomal recessive nonsyndromic deafness 115", + "output": "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the spns2 gene on chromosome 17p13.2." + }, + { + "input": "autosomal recessive nonsyndromic deafness 110", + "output": "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the coch gene on chromosome 14q12." + }, + { + "input": "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", + "output": "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the tbc1d24 gene on chromosome 16p13.3." + }, + { + "input": "congenital lactase deficiency", + "output": "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in lct on chromosome 2q21.3." + }, + { + "input": "schopf-schulz-passarge syndrome", + "output": "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the wnt10a gene on chromosome 2q35." + }, + { + "input": "ectopia lentis with ectopia of pupil", + "output": "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the adamtsl4 gene on chromosome 1q21.2." + }, + { + "input": "ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome", + "output": "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the cdh3 gene on chromosome 16q22.1." + }, + { + "input": "ectodermal dysplasia 13", + "output": "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the kremen1 gene on chromosome 22q12.1." + }, + { + "input": "ectodermal dysplasia 15", + "output": "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the cst6 gene on chromosome 11q13.1." + }, + { + "input": "ectodermal dysplasia 12", + "output": "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the kdf1 gene on chromosome 1p36.11." + }, + { + "input": "ectodermal dysplasia 11a", + "output": "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the edaradd gene on chromosome 1q42-q43." + }, + { + "input": "ectodermal dysplasia 11b", + "output": "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the edaradd gene on chromosome 1q42-q43." + }, + { + "input": "pure hair and nail ectodermal dysplasia", + "output": "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations." + }, + { + "input": "ectodermal dysplasia 9", + "output": "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the hoxc13 gene on chromosome 12q13.13." + }, + { + "input": "ectodermal dysplasia 5", + "output": "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1." + }, + { + "input": "ectodermal dysplasia 4", + "output": "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the krt85 gene on chromosome 12q13.13." + }, + { + "input": "ectodermal dysplasia 6", + "output": "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2." + }, + { + "input": "ectodermal dysplasia 7", + "output": "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the krt74 gene on chromosome 12q13.13." + }, + { + "input": "ectodermal dysplasia 8", + "output": "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3." + }, + { + "input": "ectodermal dysplasia 14", + "output": "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the tspear gene on chromosome 21q22.3." + }, + { + "input": "ectodermal dysplasia 10a", + "output": "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the edar gene on chromosome 2q13." + }, + { + "input": "ectodermal dysplasia 1", + "output": "A hypohidrotic ectodermal dysplasia that has_material_basis_in x-linked recessive mutation in eda on chromosome xq13.1." + }, + { + "input": "ectodermal dysplasia 10b", + "output": "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the edar gene on chromosome 2q13." + }, + { + "input": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome", + "output": "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the flvcr2 gene on chromosome 14q24.3." + }, + { + "input": "enterokinase deficiency", + "output": "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the tmprss15 gene on chromosome 21q21.1." + }, + { + "input": "kohlschutter-tonz syndrome", + "output": "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in rogdi on chromosome 16p13.3." + }, + { + "input": "hyaline fibromatosis syndrome", + "output": "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the antxr2 gene on chromosome 4q21.21." + }, + { + "input": "primary hyperoxaluria type 1", + "output": "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the agxt gene on chromosome 2q37.3." + }, + { + "input": "primary hyperoxaluria type 2", + "output": "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and l-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the grhpr gene on chromosome 9p13.2." + }, + { + "input": "primary hyperoxaluria type 3", + "output": "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the hoga1 gene on chromosome 10q24.2." + }, + { + "input": "saul-wilson syndrome", + "output": "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the cog4 gene on chromosome 16q22.1." + }, + { + "input": "intellectual developmental disorder with short stature and behavioral abnormalities", + "output": "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the iqsec1 gene on chromosome 3p25.2-p25.1." + }, + { + "input": "neurooculocardiogenitourinary syndrome", + "output": "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the wdr37 gene on chromosome 10p15.3." + }, + { + "input": "high molecular weight kininogen deficiency", + "output": "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the kng1 gene on chromosome 3q27.3. both high and low molecular weight kininogen are encoded by the kng1 gene." + }, + { + "input": "familial benign fleck retina", + "output": "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the pla2g5 gene on chromosome 1p36.13." + }, + { + "input": "hereditary folate malabsorption", + "output": "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the slc46a1 gene on chromosome 17q11.2." + }, + { + "input": "glutamate formiminotransferase deficiency", + "output": "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the ftcd gene on chromosome 21q22.3." + }, + { + "input": "essential fructosuria", + "output": "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in khk on chromosome 2p23.3." + }, + { + "input": "glutamate-cysteine ligase deficiency", + "output": "An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the gclc gene on chromosome 6p12.1." + }, + { + "input": "diffuse cystic renal dysplasia", + "output": "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the bicc1 gene on chromosome 10q21.1. the same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder." + }, + { + "input": "neurofibromatosis-noonan syndrome", + "output": "A rasopathy characterized by neurofibromatosis and manifestations of noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in nf1 on chromosome 17q11.2." + }, + { + "input": "hereditary mixed polyposis syndrome", + "output": "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated." + }, + { + "input": "hereditary mixed polyposis syndrome 1", + "output": "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1." + }, + { + "input": "hereditary mixed polyposis syndrome 2", + "output": "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the bmpr1a gene on chromosome 10q23.2." + }, + { + "input": "potocki-shaffer syndrome", + "output": "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2." + }, + { + "input": "ayme-gripp syndrome", + "output": "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in maf on chromosome 16q23.2." + }, + { + "input": "familial adult myoclonic epilepsy", + "output": "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities." + }, + { + "input": "familial adult myoclonic epilepsy 1", + "output": "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the samd12 gene on chromosome 8q24.11-q24.12." + }, + { + "input": "familial adult myoclonic epilepsy 5", + "output": "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the cntn2 gene on chromosome 1q32.1." + }, + { + "input": "familial adult myoclonic epilepsy 2", + "output": "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in stard7 on chromosome 2q11.2." + }, + { + "input": "familial adult myoclonic epilepsy 4", + "output": "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the yeats2 gene on chromosome 3q27.1." + }, + { + "input": "familial adult myoclonic epilepsy 7", + "output": "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the rapgef2 gene on chromosome 4q32.1." + }, + { + "input": "familial adult myoclonic epilepsy 3", + "output": "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the marchf6 gene on chromosome 5p15.2." + }, + { + "input": "familial adult myoclonic epilepsy 6", + "output": "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the tnrc6a gene on chromosome 16p12.1." + }, + { + "input": "cleft palate, cardiac defects, and intellectual disabillity", + "output": "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the meis2 gene on chromosome 15q14." + }, + { + "input": "proprotein convertase 1/3 deficiency", + "output": "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the pcsk1 gene on chromosome 5q15." + }, + { + "input": "van den ende-gupta syndrome", + "output": "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the scarf2 gene on chromosome 22q11.21." + }, + { + "input": "ankyrin-b-related cardiac arrhythmia", + "output": "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ank2 gene on chromosome 4q25-q26." + }, + { + "input": "long qt syndrome 4", + "output": "A long qt syndrome that has_material_basis_in heterozygous mutation in the ank2 gene on chromosome 4q25-q26." + }, + { + "input": "loose anagen hair syndrome", + "output": "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age." + }, + { + "input": "familial hypertryptophanemia", + "output": "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the tdo2 gene on chromosome 4q32.1." + }, + { + "input": "chromosome 2q37 deletion syndrome", + "output": "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type e, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2." + }, + { + "input": "oculoectodermal syndrome", + "output": "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the kras gene on chromosome 12p12.1." + }, + { + "input": "oblique facial clefting 1", + "output": "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the specc1l gene on chromosome 22q11.23." + }, + { + "input": "bothnian type palmoplantar keratoderma", + "output": "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the aqp5 gene on chromosome 12q13.12." + }, + { + "input": "focal nonepidermolytic palmoplantar keratoderma", + "output": "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction." + }, + { + "input": "focal nonepidermolytic palmoplantar keratoderma 1", + "output": "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the krt16 gene on chromosome 17q21.2." + }, + { + "input": "focal or diffuse nonepidermolytic palmoplantar keratoderma", + "output": "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the krt6c gene on chromosome 12q13.13." + }, + { + "input": "focal nonepidermolytic palmoplantar keratoderma 2", + "output": "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the trpv3 gene on chromosome 17p13.2." + }, + { + "input": "kagami-ogata syndrome", + "output": "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32." + }, + { + "input": "temple syndrome", + "output": "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32." + }, + { + "input": "mulchandani-bhoj-conlin syndrome", + "output": "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13." + }, + { + "input": "schaaf-yang syndrome", + "output": "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene magel2 on chromosome 15q11.2." + }, + { + "input": "cryptophthalmia", + "output": "A physical disorder characterized by ocular dysplasia with eyelid malformation." + }, + { + "input": "isolated cryptophthalmia", + "output": "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye." + }, + { + "input": "partial cryptophthalmia", + "output": "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea." + }, + { + "input": "complete cryptophthalmia", + "output": "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket." + }, + { + "input": "congenital symblepharon", + "output": "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia." + }, + { + "input": "amelogenesis imperfecta type 3", + "output": "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption." + }, + { + "input": "amelogenesis imperfecta type 3c", + "output": "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the relt gene on chromosome 11q13." + }, + { + "input": "jacobsen syndrome", + "output": "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q." + }, + { + "input": "geleophysic dysplasia", + "output": "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis." + }, + { + "input": "geleophysic dysplasia 1", + "output": "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the adamtsl2 gene on chromosome 9q34.2." + }, + { + "input": "geleophysic dysplasia 2", + "output": "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the fbn1 gene on chromosome 15q21.1." + }, + { + "input": "geleophysic dysplasia 3", + "output": "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the ltbp3 gene on chromosome 11q13.1." + }, + { + "input": "familial episodic pain syndrome", + "output": "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion." + }, + { + "input": "familial episodic pain syndrome 1", + "output": "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the trpa1 gene on chromosome 8q13." + }, + { + "input": "familial episodic pain syndrome 2", + "output": "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the scn10a gene on chromosome 3p22." + }, + { + "input": "familial episodic pain syndrome 3", + "output": "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the scn11a gene on chromosome 3p22." + }, + { + "input": "eiken syndrome", + "output": "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the pthr1 gene on chromosome 3p21.31." + }, + { + "input": "pancreatic hypoplasia-diabetes-congenital heart disease syndrome", + "output": "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in gata6 on chromosome 18q11.2." + }, + { + "input": "aminoglycoside-induced deafness", + "output": "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes mtrnr1 or mtco1 in combination with homozygous mutation in trmu on chromosome 22q13.31." + }, + { + "input": "x-linked deafness 4", + "output": "An x-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the smpx gene on chromosome xp22.12." + }, + { + "input": "x-linked deafness 3", + "output": "An x-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome xp21.2." + }, + { + "input": "x-linked deafness 2", + "output": "An x-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in pou3f4 or upstream regulatory elements of this gene on chromosome xq21.1." + }, + { + "input": "x-linked deafness 7", + "output": "An x-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the gprasp2 gene on chromosome xq22.1." + }, + { + "input": "x-linked deafness 1", + "output": "An x-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the prps1 gene on chromosome xq22.3." + }, + { + "input": "x-linked deafness 6", + "output": "An x-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the col4a6 gene on chromosome xq22.3." + }, + { + "input": "x-linked deafness 5", + "output": "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the aifm1 gene on chromosome xq26.1." + }, + { + "input": "cerebellar ataxia type 42", + "output": "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the cacna1g gene on chromosome 17q21." + }, + { + "input": "cerebellar ataxia type 47", + "output": "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the pum1 gene on chromosome 1p35.2." + }, + { + "input": "cerebellar ataxia type 41", + "output": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the trpc3 gene on chromosome 4q27." + }, + { + "input": "cerebellar ataxia type 43", + "output": "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in mme on chromosome 3q25.2." + }, + { + "input": "cerebellar ataxia type 48", + "output": "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the stub1 gene on chromosome 16p13.3." + }, + { + "input": "cerebellar ataxia type 9", + "output": "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain mri." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency mitochondrial type 1", + "output": "A mitochondrial complex v (atp synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene mtatp6." + }, + { + "input": "mitochondrial complex v (atp synthase) deficiency nuclear type 6", + "output": "A mitochondrial complex v (atp synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the atp5md gene on chromosome 10q24.33." + }, + { + "input": "adult-onset ataxia and polyneuropathy", + "output": "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene mtatp6." + }, + { + "input": "mitochondrial nonsyndromic sensorineural deafness", + "output": "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; mtrnr1, mtts1, mtco1, mtth, mtnd1, and mtti." + }, + { + "input": "autosomal-mitochondrial sensorineural deafness", + "output": "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene mtrnr1 and an unidentified nuclear gene." + }, + { + "input": "infantile hypertrophic cardiomyopathy", + "output": "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes mtatp6 and mtatp8." + }, + { + "input": "leber plus disease", + "output": "A syndrome characterized by leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities." + }, + { + "input": "leber hereditary optic neuropathy and dystonia", + "output": "A leber plus disease characterized by leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes mtnd6, mtnd4, mtnd1 or mtnd3 that make up the mitochondrial complex i." + }, + { + "input": "leber hereditary optic neuropathy with demyelinating disease of cns", + "output": "A leber plus disease characterized by leber hereditary optic neuropathy and demyelination in the central nervous system." + }, + { + "input": "y-linked deafness", + "output": "A nonsyndromic deafness characterized by a y-lnked inheritance mode." + }, + { + "input": "y-linked deafness 2", + "output": "A y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the tbl1y gene on chromosome yp11.2." + }, + { + "input": "y-linked deafness 1", + "output": "A y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life." + }, + { + "input": "46,xx sex reversal", + "output": "A gonadal dysgenesis characterized by presentation of an xx karyotype and male external genitalia ranging from normal to ambiguous." + }, + { + "input": "46,xx sex reversal 1", + "output": "A 46,xx sex reversal that has_material_basis_in translocation of sry onto the x chromosome." + }, + { + "input": "46,xx sex reversal 3", + "output": "A 46,xx sex reversal that has_material_basis_in genomic duplications or deletions in the sox3 regulatory region on chromosome xq26." + }, + { + "input": "46,xx sex reversal 2", + "output": "A 46,xx sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the sox9 gene on chromosome 17q24." + }, + { + "input": "46,xx sex reversal 4", + "output": "A 46,xx sex reversal that has_material_basis_in heterozygous mutation in the nr5a1 gene on chromosome 9q33.3." + }, + { + "input": "x-linked cardiac valvular dysplasia", + "output": "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the flna gene on chromosome xq28." + }, + { + "input": "x-linked vacterl association", + "output": "A vacterl association that has_material_basis_in mutation in the zic3 gene on chromosome xq26.3 or the fancb gene on chromosome xp22.2." + }, + { + "input": "x-linked thrombocytopenia with beta-thalassemia", + "output": "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the dna binding domain of the gata1 gene on chromosome xp11.23." + }, + { + "input": "x-linked properdin deficiency", + "output": "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in pfc on chromosome xp11.23." + }, + { + "input": "46,xy sex reversal 6", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the map3k1 gene on chromosome 5q11.2." + }, + { + "input": "46,xy sex reversal 9", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the zfpm2 gene on chromosome 8q23.1." + }, + { + "input": "46,xy sex reversal 4", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p." + }, + { + "input": "46,xy sex reversal 3", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the nr5a1 gene on chromosome 9q33.3." + }, + { + "input": "46,xy sex reversal 8", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the akr1c2 gene on chromosome 10p15.1." + }, + { + "input": "46,xy sex reversal 7", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in dhh on chromosome 12q13.12." + }, + { + "input": "46,xy sex reversal 10", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the sox9 gene on chromosome 17q24." + }, + { + "input": "46,xy sex reversal 5", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the cbx2 gene on chromosome 17q25.3." + }, + { + "input": "46,xy sex reversal 2", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the nr0b1 gene on chromosome xp21.2." + }, + { + "input": "46,xy sex reversal 1", + "output": "A 46 xy sex reversal characterized by an xy karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in sry on chromosome yp11.2." + }, + { + "input": "x-linked panhypopituitarism", + "output": "A panhypopituitarism that has_material_basis_in duplications in the sox3 gene on chromosome xq27.1." + }, + { + "input": "tarp syndrome", + "output": "A syndrome characterized by talipes equinovarus, atrial septal defect, robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the rbm10 gene on chromosome xp11.3." + }, + { + "input": "waisman syndrome", + "output": "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the rab39b gene on chromosome xq28." + }, + { + "input": "otopalatodigital syndrome spectrum disorder", + "output": "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. most but not all subtypes are associated with mutations in flna on chromosome xq28." + }, + { + "input": "otopalatodigital syndrome type 1", + "output": "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the flna gene on chromosome xq28." + }, + { + "input": "otopalatodigital syndrome type 2", + "output": "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the flna gene on chromosome xq28." + }, + { + "input": "frontometaphyseal dysplasia", + "output": "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss." + }, + { + "input": "frontometaphyseal dysplasia 1", + "output": "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in flna on chromosome xq28." + }, + { + "input": "frontometaphyseal dysplasia 2", + "output": "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in map3k7 on chromosome 6q15." + }, + { + "input": "melnick-needles syndrome", + "output": "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the flna gene on chromosome xq28." + }, + { + "input": "frank-ter haar syndrome", + "output": "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the sh3pxd2b gene on chromosome 5q35.1." + }, + { + "input": "congenital nystagmus 1", + "output": "A congenital nystagmus that has_material_basis_in mutation in the frmd7 gene on chromosome xq26.2." + }, + { + "input": "congenital nystagmus 7", + "output": "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1." + }, + { + "input": "congenital nystagmus 2", + "output": "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12." + }, + { + "input": "congenital nystagmus 3", + "output": "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2." + }, + { + "input": "congenital nystagmus 6", + "output": "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the gpr143 gene on chromosome xp22.2." + }, + { + "input": "congenital nystagmus 5", + "output": "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome xp11.4." + }, + { + "input": "autosomal recessive congenital nystagmus", + "output": "A congenital nystagmus characterized by autosomal recessive inheritance." + }, + { + "input": "x-linked nephrolithiasis type i", + "output": "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the clcn5 gene on chromosome xp11.23." + }, + { + "input": "syndromic microphthalmia 1", + "output": "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the naa10 gene on chromosome xq28." + }, + { + "input": "syndromic microphthalmia 12", + "output": "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the rarb gene on chromosome 3p24.2." + }, + { + "input": "syndromic microphthalmia 3", + "output": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the sox2 gene on chromosome 3q26.33." + }, + { + "input": "syndromic microphthalmia 14", + "output": "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the mab21l2 gene on chromosome 4q31.3." + }, + { + "input": "syndromic microphthalmia 8", + "output": "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21." + }, + { + "input": "syndromic microphthalmia 11", + "output": "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in vax1 on chromosome 10q25.3." + }, + { + "input": "syndromic microphthalmia 6", + "output": "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the bmp4 gene on chromosome 14q22.2." + }, + { + "input": "syndromic microphthalmia 5", + "output": "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the otx2 gene on chromosome 14q22.3." + }, + { + "input": "syndromic microphthalmia 9", + "output": "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the stra6 gene on chromosome 15q24.1." + }, + { + "input": "linear skin defects with multiple congenital anomalies 1", + "output": "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the hccs gene on chromosome xp22.2." + }, + { + "input": "syndromic microphthalmia 2", + "output": "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the bcor gene on chromosome xp11.4." + }, + { + "input": "syndromic microphthalmia 13", + "output": "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the hmgb3 gene on chromosome xq28." + }, + { + "input": "syndromic microphthalmia 10", + "output": "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability." + }, + { + "input": "syndactyly type 8", + "output": "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the fgf16 gene on chromosome xq21.1." + }, + { + "input": "methylmalonic acidemia and homocysteinemia cblx type", + "output": "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the hcfc1 gene on chromosome xq28." + }, + { + "input": "low molecular weight proteinuria with hypercalciuric nephrocalcinosis", + "output": "A dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the clcn5 gene on chromosome xp11.22." + }, + { + "input": "syndactyly type 1", + "output": "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36." + }, + { + "input": "syndactyly type 3", + "output": "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the gja1 gene on chromosome 6q22.31." + }, + { + "input": "syndactyly type 4", + "output": "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a shh regulatory element in intron 5 of the lmbr1 gene on chromosome 7q36.3." + }, + { + "input": "syndactyly type 5", + "output": "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the hoxd13 gene on chromosome 2q31.1." + }, + { + "input": "zygodactyly 1", + "output": "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement." + }, + { + "input": "ichthyosis follicularis-alopecia-photophobia syndrome 1", + "output": "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the mbtps2 gene on chromosome xp22.12." + }, + { + "input": "child syndrome", + "output": "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the nsdhl gene on chromosome xq28." + }, + { + "input": "autosomal hemophilia a", + "output": "A blood coagulation disease characterized by autosomal inheritence of a factor viii deficiency." + }, + { + "input": "aarskog syndrome", + "output": "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature." + }, + { + "input": "autosomal dominant aarskog syndrome", + "output": "An aarskog syndrome characterized by autosomal dominant inheritance." + }, + { + "input": "abruzzo-erickson syndrome", + "output": "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the tbx22 gene on chromosome xq21.1." + }, + { + "input": "x-linked spinal muscular atrophy 2", + "output": "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the uba1 gene on chromosome xp11.3." + }, + { + "input": "x-linked cerebellar ataxia", + "output": "A hereditary ataxia characterized by x-linked inheritance." + }, + { + "input": "x-linked spinocerebellar ataxia 1", + "output": "An x-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the atp2b3 gene on chromosome xq28." + }, + { + "input": "x-linked spinocerebellar ataxia 2", + "output": "An x-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with x-linked inheritance." + }, + { + "input": "x-linked spinocerebellar ataxia 3", + "output": "An x-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with x-linked inheritance." + }, + { + "input": "x-linked spinocerebellar ataxia 4", + "output": "An x-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with x-linked inheritance." + }, + { + "input": "x-linked spinocerebellar ataxia 5", + "output": "An x-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome xq25-q27.1." + }, + { + "input": "x-linked reticulate pigmentary disorder", + "output": "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of blaschko in heterozygous females that has_material_basis_in mutation in the pola1 gene on chromosome xp22.1-p21.3." + }, + { + "input": "congenital nongoitrous hypothyroidism 9", + "output": "A congenital hypothyroidism characterized by a small thyroid gland with low free t4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the irs4 gene on chromosome xq22.3." + }, + { + "input": "congenital nongoitrous hypothyroidism 7", + "output": "A congenital hypothyroidism characterized by normal-to-low t4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the trhr gene on chromosome 8q23.1." + }, + { + "input": "congenital nongoitrous hypothyroidism 8", + "output": "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the tbl1x gene on chromosome xp22.3-p22.2." + }, + { + "input": "basilicata-akhtar syndrome", + "output": "A syndromic x-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the msl3 gene on chromosome xp22.2." + }, + { + "input": "congenital disorder of glycosylation icc", + "output": "A congenital disorder of glycosylation type i characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the magt1 gene on chromosome xq21.1." + }, + { + "input": "van esch-o'driscoll syndrome", + "output": "A syndromic x-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the pola1 gene on chromosome xp22.1-p21.3." + }, + { + "input": "shukla-vernon syndrome", + "output": "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and adhd that has_material_basis_in hemizygous mutation in the bcorl1 gene on chromosome xq26.1." + }, + { + "input": "keipert syndrome", + "output": "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the gpc4 gene on chromosome xq26.2." + }, + { + "input": "paganini-miozzo syndrome", + "output": "A syndromic x-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the hs6st2 gene on chromosome xq26.2." + }, + { + "input": "x-linked intellectual developmental disorder 108", + "output": "A syndromic x-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the slc9a7 gene on chromosome xp11.3." + }, + { + "input": "mullegama-klein-martinez syndrome", + "output": "A syndromic x-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the stag2 gene on chromosome xq25." + }, + { + "input": "x-linked congenital hemolytic anemia", + "output": "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the atp11c gene on chromosome xq27.1." + }, + { + "input": "osteogenesis imperfecta type 19", + "output": "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in mbtps2 on chromosome xp22.12." + }, + { + "input": "osteogenesis imperfecta type 18", + "output": "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in tent5a on chromosome 6q14.1." + }, + { + "input": "osteogenesis imperfecta type 20", + "output": "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in mesd on chromosome 15q25.1." + }, + { + "input": "primary ciliary dyskinesia 36", + "output": "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the pih1d3 gene on chromosome xq22.3." + }, + { + "input": "primary ciliary dyskinesia 44", + "output": "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the nek10 gene on chromosome 3p24.1." + }, + { + "input": "primary ciliary dyskinesia 38", + "output": "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the cfap300 gene on chromosome 11q22.1." + }, + { + "input": "primary ciliary dyskinesia 40", + "output": "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the dnah9 gene on chromosome 17p12." + }, + { + "input": "primary ciliary dyskinesia 39", + "output": "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the lrrc56 gene on chromosome 11p15.5." + }, + { + "input": "primary ciliary dyskinesia 42", + "output": "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the mcidas gene on chromosome 5q11.2." + }, + { + "input": "primary ciliary dyskinesia 43", + "output": "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in foxj1 on chromosome 17q25.1." + }, + { + "input": "primary ciliary dyskinesia 45", + "output": "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the ttc12 gene on chromosome 11q23.2." + }, + { + "input": "primary ciliary dyskinesia 41", + "output": "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the gas2l2 gene on chromosome 17q12." + }, + { + "input": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis", + "output": "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the ammecr1 gene on chromosome xq23." + }, + { + "input": "amme complex", + "output": "A syndrome characterized by alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including col4a5, facl4 and ammecr1 on chromosome xq22.3." + }, + { + "input": "meester-loeys syndrome", + "output": "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of loeys-dietz syndrome that has_material_basis_in mutation in bgn on chromosome xq28." + }, + { + "input": "congenital bilateral absence of vas deferens", + "output": "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility." + }, + { + "input": "x-linked congenital bilateral absence of vas deferens", + "output": "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the adgrg2 gene on chromosome xp22.13." + }, + { + "input": "autosomal recessive congenital bilateral absence of vas deferens", + "output": "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the cftr gene on chromosome 7q31.2." + }, + { + "input": "mend syndrome", + "output": "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in ebp on chromosome xp11.23." + }, + { + "input": "trichothiodystrophy", + "output": "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections." + }, + { + "input": "nonphotosensitive trichothiodystrophy", + "output": "A trichothiodystrophy characterized by absence of extreme sensitivity to uv radiation." + }, + { + "input": "nonphotosensitive trichothiodystrophy 5", + "output": "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the rnf113a gene on chromosome xq24." + }, + { + "input": "photosensitive trichothiodystrophy 2", + "output": "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ercc3 gene on chromosome 2q14.3." + }, + { + "input": "nonphotosensitive trichothiodystrophy 7", + "output": "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the tars1 gene on chromosome 5p13.3." + }, + { + "input": "photosensitive trichothiodystrophy 3", + "output": "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gtf2h5 gene on chromosome 6q25.3." + }, + { + "input": "nonphotosensitive trichothiodystrophy 6", + "output": "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gtf2e2 gene on chromosome 8p12." + }, + { + "input": "photosensitive trichothiodystrophy 1", + "output": "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ercc2 gene on chromosome 19q13.32." + }, + { + "input": "sabinas brittle hair syndrome", + "output": "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility." + }, + { + "input": "mls syndrome", + "output": "A syndrome characterized by linear skin defects and various other congenital anomalies. the classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of mls syndrome may not display eye abnormalities." + }, + { + "input": "linear skin defects with multiple congenital anomalies 3", + "output": "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the ndufb11 gene on chromosome xp11.3." + }, + { + "input": "linear skin defects with multiple congenital anomalies 2", + "output": "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the cox7b gene on chromosome xq21.1." + }, + { + "input": "diamond-blackfan anemia 7", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rpl11 gene on chromosome 1p36.11." + }, + { + "input": "diamond-blackfan anemia 6", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rpl5 gene on chromosome 1p22.1." + }, + { + "input": "diamond-blackfan anemia 17", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps27 gene on chromosome 1q21.3." + }, + { + "input": "diamond-blackfan anemia 8", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps7 gene on chromosome 2p25.3." + }, + { + "input": "diamond-blackfan anemia 12", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rpl15 gene on chromosome 3p24.2." + }, + { + "input": "diamond-blackfan anemia 5", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rpl35a gene on chromosome 3q29." + }, + { + "input": "diamond-blackfan anemia 9", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps10 gene on chromosome 6p21.31." + }, + { + "input": "diamond-blackfan anemia 2", + "output": "A diamond-blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22." + }, + { + "input": "diamond-blackfan anemia 19", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rpl35 gene on chromosome 9q33.3." + }, + { + "input": "diamond-blackfan anemia 3", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps24 gene on chromosome 10q22.3." + }, + { + "input": "diamond-blackfan anemia 10", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps26 gene on chromosome 12q13.2." + }, + { + "input": "diamond-blackfan anemia 13", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps29 gene on chromosome 14q21.3." + }, + { + "input": "diamond-blackfan anemia 4", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps17 gene on chromosome 15q25.2." + }, + { + "input": "diamond-blackfan anemia 20", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps15a gene on chromosome 16p12.3." + }, + { + "input": "diamond-blackfan anemia 11", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rpl26 gene on chromosome 17p13.1." + }, + { + "input": "diamond-blackfan anemia 16", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rpl27 gene on chromosome 17q21.31." + }, + { + "input": "diamond-blackfan anemia 15 with mandibulofacial dysostosis", + "output": "A diamond-blackfan anemia characterized by diamond-blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the rps28 gene on chromosome 19p13.2." + }, + { + "input": "diamond-blackfan anemia 1", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rps19 gene on chromosome 19q13.2." + }, + { + "input": "diamond-blackfan anemia 18", + "output": "A diamond-blackfan anemia that has_material_basis_in heterozygous mutation in the rpl18 gene on chromosome 19q13.33." + }, + { + "input": "diamond-blackfan anemia 14 with mandibulofacial dysostosis", + "output": "A diamond-blackfan anemia characterized by diamond-blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the tsr2 gene on chromosome xp11.22." + }, + { + "input": "ck syndrome", + "output": "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the nsdhl gene on chromosome xq28." + }, + { + "input": "x-linked thrombophilia due to factor ix defect", + "output": "A thrombophilia characterized by normal levels of f9 antigen, but very high levels of f9 activity that has_material_basis_in hemizygous gain of function mutation in f9 on chromosome xq27.1." + }, + { + "input": "autosomal dominant thrombophilia due to protein s deficiency", + "output": "A protein s deficiency characterized by reduced serum protein s levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the pros1 gene on chromosome 3q11.1." + }, + { + "input": "heparin cofactor ii deficiency", + "output": "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the hcf2 gene on chromosome 22q11.21." + }, + { + "input": "thrombophilia due to activated protein c resistance", + "output": "A thrombophilia characterized by resistance of f5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in f5 on chromosome 1q24.2." + }, + { + "input": "thrombophilia due to hrg deficiency", + "output": "A thrombophilia characterized by decreased histidine-rich glycoprotein (hrg) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in hrg on chromosome 3q27.3." + }, + { + "input": "autosomal recessive thrombophilia due to protein c deficiency", + "output": "A protein c deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the proc gene on chromosome 2q14.3." + }, + { + "input": "autosomal recessive thrombophilia due to protein s deficiency", + "output": "A protein s deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the pros1 gene on chromosome 3q11.1." + }, + { + "input": "thrombophilia due to decreased release of plat", + "output": "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls." + }, + { + "input": "thrombophilia due to thrombin defect", + "output": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in f2 on chromosome 11p11.2." + }, + { + "input": "thrombophilia due to thrombomodulin defect", + "output": "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the thbd gene on chromosome 20p11.21." + }, + { + "input": "autosomal dominant thrombophilia due to protein c deficiency", + "output": "A thrombophilia characterized by reduced serum levels or impaired activity of proc and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the proc gene on chromosome 2q14.3." + }, + { + "input": "spermatogenic failure", + "output": "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa." + }, + { + "input": "spermatogenic failure 34", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the fsip2 gene on chromosome 2q32.1." + }, + { + "input": "spermatogenic failure 41", + "output": "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the cfap70 gene on chromosome 10q22.2." + }, + { + "input": "spermatogenic failure 30", + "output": "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the tdrd9 gene on chromosome 14q32.33." + }, + { + "input": "spermatogenic failure 35", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the qrich2 gene on chromosome 17q25.1." + }, + { + "input": "spermatogenic failure 33", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the wdr66 gene on chromosome 12q24.31." + }, + { + "input": "spermatogenic failure 28", + "output": "A spermatogenic failure characterized by nonobstructive azoospermia and a sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the fancm gene on chromosome 14q21.2." + }, + { + "input": "spermatogenic failure 43", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the spef2 gene on chromosome 5p13.2." + }, + { + "input": "spermatogenic failure 40", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the cfap65 gene on chromosome 2q35." + }, + { + "input": "spermatogenic failure 38", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the armc2 gene on chromosome 6q21." + }, + { + "input": "spermatogenic failure 25", + "output": "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the tex15 gene on chromosome 8p12." + }, + { + "input": "spermatogenic failure 36", + "output": "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the ppp2r3c gene on chromosome 14q13.2." + }, + { + "input": "spermatogenic failure 31", + "output": "A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the pmfbp1 gene on chromosome 16q22.2." + }, + { + "input": "spermatogenic failure 42", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the ttc29 gene on chromosome 4q31.22." + }, + { + "input": "spermatogenic failure 26", + "output": "A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the tsga10 gene on chromosome 2q11.2." + }, + { + "input": "spermatogenic failure 32", + "output": "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the sohlh1 gene on chromosome 9q34.3." + }, + { + "input": "spermatogenic failure 39", + "output": "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the dnah17 gene on chromosome 17q25.3." + }, + { + "input": "spermatogenic failure 37", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the ttc21a gene on chromosome 3p22.2." + }, + { + "input": "spermatogenic failure 27", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in ak7 on chromosome 14q32.2." + }, + { + "input": "spermatogenic failure 24", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the cfap69 gene on chromosome 7q21.13." + }, + { + "input": "spermatogenic failure 29", + "output": "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the spink2 gene on chromosome 4q12." + }, + { + "input": "syndactyly-telecanthus-anogenital and renal malformations syndrome", + "output": "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the fam58a gene on chromosome xq28." + }, + { + "input": "severe congenital encephalopathy due to mecp2 mutation", + "output": "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the mecp2 gene on chromosome xq28." + }, + { + "input": "phosphoglycerate kinase 1 deficiency", + "output": "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the pgk1 gene on chromosome xq21.1." + }, + { + "input": "immunodeficiency 38", + "output": "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the isg15 gene on chromosome 1p36.33." + }, + { + "input": "immunodeficiency 16", + "output": "A combined t cell and b cell immunodeficiency characterized by classic kaposi sarcoma of childhood, poor t-cell recall immune responses, and decrease in the proportion of circulating memory b cells that has_material_basis_in homozygous or compound heterozygous mutation in the tnfrsf4 gene on chromosome 1p36.33." + }, + { + "input": "immunodeficiency 14", + "output": "A combined t cell and b cell immunodeficiency characterized by b- and t-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the pik3cd gene on chromosome 1p36.22." + }, + { + "input": "immunodeficiency 22", + "output": "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective cd4 lymphopenia, and lack of cd28 expression on cd8+ t cells that has_material_basis_in homozygous or compound heterozygous mutation in the lck gene on chromosome 1p35.2." + }, + { + "input": "immunodeficiency 24", + "output": "A severe combined immunodeficiency characterized by impaired proliferation of activated t and b cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the ctps1 gene on chromosome 1p34.2." + }, + { + "input": "immunodeficiency 37", + "output": "A combined t cell and b cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory b cells and memory t cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the bcl10 gene on chromosome 1p22.3." + }, + { + "input": "immunodeficiency 42", + "output": "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the rorc gene on chromosome 1q21.3." + }, + { + "input": "immunodeficiency 20", + "output": "A primary immunodeficiency disease characterized by a defect in spontaneous nk cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the fcgr3a gene on chromosome 1q23.3." + }, + { + "input": "immunodeficiency 25", + "output": "A t cell deficiency characterized by decreased t cell counts, normal b cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the cd247 gene on chromosome 1q24.2." + }, + { + "input": "immunodeficiency 48", + "output": "A t cell deficiency characterized by a selective t cell defect where circulating t cells exclusively express cd4, cd3, and t-cell receptor-alpha/beta and not cd8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the zap70 gene on chromosome 2q11.2." + }, + { + "input": "immunodeficiency 31b", + "output": "A primary immunodeficiency disease characterized by impaired cellular responses to interferons a, b, and g resulting increased susceptibility to mycobacteria, salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the stat1 gene on chromosome 2q32.2." + }, + { + "input": "immunodeficiency 31a", + "output": "A primary immunodeficiency disease characterized by impaired response to ifng but not to infa or ifnb resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the stat1 gene on chromosome 2q32.2." + }, + { + "input": "immunodeficiency 31c", + "output": "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased ifng activation that has_material_basis_in heterozygous gain of function mutation in the stat1 gene on chromosome 2q32.2." + }, + { + "input": "immunodeficiency 21", + "output": "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, b lymphocytes, natural killer (nk) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal t cell numbers that has_material_basis_in heterozygous mutation in the gata2 gene on chromosome 3q21.3." + }, + { + "input": "immunodeficiency 46", + "output": "A combined t cell and b cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory b cells, impaired immunoglobulin class-switching, and decreased proliferative responses of t cells that has_material_basis_in homozygous or compound heterozygous mutation in the tfrc gene on chromosome 3q29." + }, + { + "input": "immunodeficiency 36", + "output": "A combined t cell and b cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the pik3r1 gene on chromosome 5q13.1." + }, + { + "input": "immunodeficiency 29", + "output": "A primary immunodeficiency disease characterized by undetectable il12b secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the il12b gene on chromosome 5q33.3." + }, + { + "input": "immunodeficiency 40", + "output": "A combined t cell and b cell immunodeficiency characterized by reduced t-cell number and function, with variable defects in b-cell and nk-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the dock2 gene on chromosome 5q35.1." + }, + { + "input": "immunodeficiency 57", + "output": "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the ripk1 gene on chromosome 6p25.2." + }, + { + "input": "immunodeficiency 23", + "output": "A combined t cell and b cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased t(h)2 and t(h)17 cytokine production by cd4(+) t cells, t-cell lymphopenia, reduced memory b-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum ige, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the pgm3 gene on chromosome 6q14.1." + }, + { + "input": "immunodeficiency 60", + "output": "A combined t cell and b cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased t-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the bach2 gene on chromosome 6q15." + }, + { + "input": "immunodeficiency 27a", + "output": "A primary immunodeficiency disease characterized by high circulating levels of ifng, failure of cellular responses to ifng, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the ifngr1 gene on chromosome 6q23.3." + }, + { + "input": "immunodeficiency 27b", + "output": "A primary immunodeficiency disease characterized by residual cellular responses to ifng in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus calmette-guerin that has_material_basis_in heterozygous mutation in the ifngr1 gene on chromosome 6q23.3." + }, + { + "input": "immunodeficiency 11a", + "output": "A severe combined immunodeficiency characterized by defective intracellular signaling in t and b cells, increased numbers of transitional b cells, hypogammaglobulinemia, decreased numbers of regulatory t cells and defects in t-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the card11 gene on chromosome 7p22.2." + }, + { + "input": "immunodeficiency 11b", + "output": "A t cell deficiency characterized by defects in t-cell activation, increased ige, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the card11 gene on chromosome 7p22.2." + }, + { + "input": "immunodeficiency 15b", + "output": "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal b and t cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the ikbkb gene on chromosome 8p11.21." + }, + { + "input": "immunodeficiency 15a", + "output": "A combined t cell and b cell immunodeficiency characterized by immune dysregulation, combined t and b cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the ikbkb gene on chromosome 8p11.21." + }, + { + "input": "immunodeficiency 26", + "output": "A severe combined immunodeficiency characterized by virtually absent peripheral b and t cells but normal numbers of nk cells, complete block in b-cell differentiation, and a defect in slow repair of dna double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the prkdc gene on chromosome 8q11.21." + }, + { + "input": "combined immunodeficiency", + "output": "A primary immunodeficiency disease that involves multiple components of the immune system." + }, + { + "input": "dendritic cell deficiency", + "output": "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells." + }, + { + "input": "b cell and dendritic cell deficiency", + "output": "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and b cells." + }, + { + "input": "t cell, b cell, and nk cell deficiency", + "output": "A combined immunodeficiency characterized by impaired function or reduced numbers of t cells, b cells, and natural killer (nk) cells." + }, + { + "input": "monocyte, dendritic cell, and nk cell deficiency", + "output": "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (nk) cells." + }, + { + "input": "immunodeficiency 54", + "output": "An nk cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of cd56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the mcm4 gene on chromosome 8q11.21." + }, + { + "input": "immunodeficiency 41", + "output": "A combined immunodeficiency characterized by a defect in t cell regulation with proliferation of cd8+ t cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the il2ra gene on chromosome 10p15.1." + }, + { + "input": "immunodeficiency 39", + "output": "A primary immunodeficiency disease characterized by impaired interferon i and iii production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the irf7 gene on chromosome 11p15.5." + }, + { + "input": "immunodeficiency 10", + "output": "A t cell and nk cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective t- and nk-cell function that has_material_basis_in homozygous mutation in the stim1 gene on chromosome 11p15.4." + }, + { + "input": "immunodeficiency 18", + "output": "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the cd3e gene on chromosome 11q23.3." + }, + { + "input": "immunodeficiency 19", + "output": "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a t cell-negative, b cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the cd3d gene on chromosome 11q23.3." + }, + { + "input": "immunodeficiency 17", + "output": "A t cell deficiency characterized by partial t-cell lymphopenia with normal numbers of b and nk cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the cd3g gene on chromosome 11q23.3." + }, + { + "input": "immunodeficiency 59", + "output": "A b cell and dendritic cell deficiency characterized by granulocytopenia, b-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the hyou1 gene on chromosome 11q23.3." + }, + { + "input": "immunodeficiency 44", + "output": "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the stat2 gene on chromosome 12q13.3." + }, + { + "input": "immunodeficiency 9", + "output": "A t cell deficiency characterized by early onset of recurrent infections due to defective t-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the orai1 gene, which encodes a subunit of the plasma membrane calcium channel crac, on chromosome 12q24.31." + }, + { + "input": "immunodeficiency 7", + "output": "A t cell deficiency characterized by decreased or absent cd3+ t cells with tcr-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the trac gene on chromosome 14q11.2." + }, + { + "input": "immunodeficiency 65", + "output": "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type i interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the irf9 gene on chromosome 14q12." + }, + { + "input": "immunodeficiency 49", + "output": "A t cell deficiency characterized by t cell lymphopenia, low t-cell receptor excision circles, impaired t-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the bcl11b gene on chromosome 14q32.2." + }, + { + "input": "immunodeficiency 64", + "output": "A t cell, b cell, and nk cell deficiency characterized by variably decreased numbers of t cells, lesser deficiencies of b and nk cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase erk in t and b cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the rasgrp1 gene on chromosome 15q14." + }, + { + "input": "immunodeficiency 43", + "output": "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin g and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in b2m on chromosome 15q21.1." + }, + { + "input": "immunodeficiency 56", + "output": "A combined t cell and b cell immunodeficiency characterized by b- and t-cell defects including defective class-switched b cells, low igg, defective antibody response, and defective t-cell responses to certain antigens, and variable dysfunction of nk cells that has_material_basis_in homozygous or compound heterozygous mutation in the il21r gene on chromosome 16p12.1." + }, + { + "input": "immunodeficiency 52", + "output": "A t cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in t-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in lat on chromosome 16p11.2." + }, + { + "input": "immunodeficiency 58", + "output": "A combined t cell and b cell immunodeficiency characterized by defective t-cell function with decreased treg cells and deficient cd3/cd28 costimulation responses in both cd4+ and cd8+ t cells, variable impairment in b-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the carmil2 gene on chromosome 16q22.1." + }, + { + "input": "immunodeficiency 32b", + "output": "A monocyte, dendritic cell, and nk cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (nk) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the irf8 gene on chromosome 16q24.1." + }, + { + "input": "immunodeficiency 32a", + "output": "A dendritic cell deficiency characterized by marked loss of cd11c-positive/cd1c dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the irf8 gene on chromosome 16q24.1." + }, + { + "input": "immunodeficiency 13", + "output": "A t cell deficiency characterized by decreased cd4 t-lymphocyte counts that has_material_basis_in heterozygous mutation in the unc119 gene on chromosome 17q11.2." + }, + { + "input": "immunodeficiency 12", + "output": "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired t cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the malt1 gene on chromosome 18q21.32." + }, + { + "input": "immunodeficiency 35", + "output": "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after bcg vaccination and impaired cellular responses to il-12, ifn-alpha/beta, il-23, and il-10 that has_material_basis_in homozygous or compound heterozygous mutation in the tyk2 gene on chromosome 19p13.2." + }, + { + "input": "immunodeficiency 30", + "output": "A t cell and nk cell immunodeficiency characterized by absence of responses to il12 and il23 in t calls and nk cells that has_material_basis_in homozygous or compound heterozygous mutation in the il12rb1 gene on chromosome 19p13.11." + }, + { + "input": "immunodeficiency 62", + "output": "A b cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory b cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the arhgef1 gene on chromosome 19q13.2." + }, + { + "input": "immunodeficiency 53", + "output": "A combined t cell and b cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the cd4+ t cell to cd8+ t cell ratio, impaired t-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the relb gene on chromosome 19q13.32." + }, + { + "input": "immunodeficiency 55", + "output": "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in dna replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the gins1 gene on chromosome 20p11.21." + }, + { + "input": "immunodeficiency 45", + "output": "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the ifnar2 gene on chromosome 21q22.11." + }, + { + "input": "immunodeficiency 28", + "output": "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of ifng in the plasma, and absence of cellular response to ifng that has_material_basis_in homozygous or compound heterozygous mutation in the ifngr2 gene on chromosome 21q22.11." + }, + { + "input": "immunodeficiency 51", + "output": "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain il17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the il17ra gene on chromosome 22q11.1." + }, + { + "input": "immunodeficiency 63", + "output": "A t cell and nk cell immunodeficiency characterized by increased numbers but impaired differentiation of nk cells, t cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the il2rb gene on chromosome 22q12.3." + }, + { + "input": "immunodeficiency 66", + "output": "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the mkl1 gene on chromosome 22q13.1-q13.2." + }, + { + "input": "immunodeficiency 61", + "output": "A b cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of b cells to produce antibodies that has_material_basis_in hemizygous mutation in the sh3kbp1 gene on chromosome xp22.12." + }, + { + "input": "immunodeficiency 34", + "output": "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the cybb gene on chromosome xp21.1-p11.4." + }, + { + "input": "immunodeficiency 50", + "output": "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in msn on chromosome xq12." + }, + { + "input": "immunodeficiency 47", + "output": "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the atp6ap1 gene on chromosome xq28." + }, + { + "input": "immunodeficiency 33", + "output": "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the ikbkg gene on chromosome xq28." + }, + { + "input": "immunodeficiency 71", + "output": "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and t-cell chemotaxis, impaired t-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the arpc1b gene on chromosome 7q22.1." + }, + { + "input": "immunodeficiency 70", + "output": "A combined t cell and b cell immunodeficiency characterized by decreased cd4+ t cells, decreased cd19+ b cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the ivns1abp gene on chromosome 1q25.3." + }, + { + "input": "immunodeficiency 69", + "output": "A t cell and nk cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of t and nk cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the ifng gene on chromosome 12q15." + }, + { + "input": "growth hormone secreting pituitary adenoma 2", + "output": "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the gpr101 gene on chromosome xq26.3." + }, + { + "input": "pituitary adenoma 5", + "output": "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the cdh23 gene on chromosome 10q22.1." + }, + { + "input": "pituitary adenoma 1", + "output": "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in aip on chromosome 11q13.2." + }, + { + "input": "pituitary adenoma 3", + "output": "A pituitary adenoma characterized by development of predominantly gh-secreting pituitary adenomas but also in some patients acth-secreting adenomas that has_material_basis_in somatic mutation in the gnas gene on chromosome 20q13.32." + }, + { + "input": "mutilating palmoplantar keratoderma with periorificial keratotic plaques", + "output": "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions." + }, + { + "input": "x-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques", + "output": "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the mbtps2 gene on chromosome xp22.12." + }, + { + "input": "autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques", + "output": "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the trpv3 gene on chromosome 17p13.2." + }, + { + "input": "congenital megabladder", + "output": "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the myocd gene on chromosome 17p12." + }, + { + "input": "immunodeficiency 72", + "output": "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the nckap1l gene on chromosome 12q13.1-q13.2." + }, + { + "input": "non-syndromic x-linked intellectual disability 2", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome xp22.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 73", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome xp22.2." + }, + { + "input": "non-syndromic x-linked intellectual disability 104", + "output": "A non-syndromic x-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the frmpd4 gene on chromosome xp22.2." + }, + { + "input": "non-syndromic x-linked intellectual disability 19", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the rps6ka3 gene on chromosome xp22.12." + }, + { + "input": "non-syndromic x-linked intellectual disability 103", + "output": "A non-syndromic x-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the klhl15 gene on chromosome xp22.11." + }, + { + "input": "non-syndromic x-linked intellectual disability arx-related", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in arx on chromosome xp21.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 21", + "output": "A non-syndromic x-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the il1rapl1 gene on chromosome xp21.3-p21.2." + }, + { + "input": "non-syndromic x-linked intellectual disability 20", + "output": "A non-syndromic x-linked intellectual disability that has_material_basis_in mutation in a region on chromosome xp11-q21." + }, + { + "input": "non-syndromic x-linked intellectual disability 58", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the tspan7 gene on chromosome xp11.4." + }, + { + "input": "female-restricted syndromic x-linked intellectual disability 99", + "output": "A syndromic x-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the usp9x gene on chromosome xp11.4." + }, + { + "input": "non-syndromic x-linked intellectual disability 99", + "output": "A non-syndromic x-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the usp9x gene on chromosome xp11.4." + }, + { + "input": "non-syndromic x-linked intellectual disability 14", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome xp11.3-q13.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 45", + "output": "A non-syndromic x-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome xp11.3-p11.21." + }, + { + "input": "non-syndromic x-linked intellectual disability 50", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome xp11.3-p11.21." + }, + { + "input": "non-syndromic x-linked intellectual disability 84", + "output": "A non-syndromic x-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome xp11.3-q22.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 89", + "output": "A non-syndromic x-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome xp11.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 92", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome xp11.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 81", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome xp11.2-q12." + }, + { + "input": "non-syndromic x-linked intellectual disability 9", + "output": "A non-syndromic x-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the ftsj1 gene on chromosome xp11.23." + }, + { + "input": "non-syndromic x-linked intellectual disability 96", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in syp on chromosome xp11.23." + }, + { + "input": "non-syndromic x-linked intellectual disability 105", + "output": "A non-syndromic x-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the usp27x gene on chromosome xp11.23." + }, + { + "input": "chromosome xp11.22 duplication syndrome", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome xp11.22 involving both the hsd17b10 and huwe1 genes." + }, + { + "input": "non-syndromic x-linked intellectual disability 1", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the iqsec2 gene on chromosome xp11.22." + }, + { + "input": "non-syndromic x-linked intellectual disability 77", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome xq12-q21.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 100", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the kif4a gene on chromosome xq13.1." + }, + { + "input": "non-syndromic x-linked intellectual disability 90", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the dlg3 gene on chromosome xq13.1." + }, + { + "input": "tonne-kalscheuer syndrome", + "output": "A syndromic x-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the rlim gene on chromosome xq13.2." + }, + { + "input": "non-syndromic x-linked intellectual disability 91", + "output": "A non-syndromic x-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome xq13.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 98", + "output": "A non-syndromic x-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in nexmif on chromosome xq13.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 93", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the brwd3 gene on chromosome xq21.1." + }, + { + "input": "non-syndromic x-linked intellectual disability 97", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the znf711 gene on chromosome xq21.1." + }, + { + "input": "non-syndromic x-linked intellectual disability 53", + "output": "A non-syndromic x-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome xq22.2-q26." + }, + { + "input": "non-syndromic x-linked intellectual disability 101", + "output": "A non-syndromic x-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the mid2 gene on chromosome xq22.3." + }, + { + "input": "non-syndromic x-linked intellectual disability 23", + "output": "A non-syndromic x-linked intellectual disability characterized by decreased verbal but not performance iqs that has_material_basis_in mutation in a region on chromosome xq23-q24." + }, + { + "input": "non-syndromic x-linked intellectual disability 63", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the acsl4 gene on chromosome xq23." + }, + { + "input": "non-syndromic x-linked intellectual disability 30", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the pak3 gene on chromosome xq23." + }, + { + "input": "non-syndromic x-linked intellectual disability 82", + "output": "A non-syndromic x-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome xq24-q25." + }, + { + "input": "non-syndromic x-linked intellectual disability 88", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome xq24." + }, + { + "input": "non-syndromic x-linked intellectual disability 107", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in cxorf56 on chromosome xq24." + }, + { + "input": "non-syndromic x-linked intellectual disability 46", + "output": "A non-syndromic x-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome xq25-q26." + }, + { + "input": "x-linked intellectual disability-short stature-overweight syndrome", + "output": "A syndromic x-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the thoc2 gene on chromosome xq25." + }, + { + "input": "non-syndromic x-linked intellectual disability 42", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome xq26." + }, + { + "input": "non-syndromic x-linked intellectual disability 41", + "output": "A non-syndromic x-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the gdi1 gene on chromosome xq28." + }, + { + "input": "non-syndromic x-linked intellectual disability 72", + "output": "A non-syndromic x-linked intellectual disability that has_material_basis_in hemizygous mutation in the rab39b gene on chromosome xq28." + }, + { + "input": "raynaud-claes syndrome", + "output": "A syndromic x-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the clcn4 gene on chromosome xp22.2." + }, + { + "input": "immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia", + "output": "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including b- and t-cell lymphopenia, decreased immunoglobulin subsets, decreased tcr excision circles and dysfunctional t cells, decreased nk cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the rac2 gene on chromosome 22q13.1." + }, + { + "input": "immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia", + "output": "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased b cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the rac2 gene on chromosome 22q12." + }, + { + "input": "x-linked immunodeficiency 74", + "output": "A t cell deficiency characterized by severe respiratory insufficiency in response to infection with the covid19 coronavirus and impaired signaling through the tlr7 pathway that has_material_basis_in hemizygous mutation in the tlr7 gene on chromosome xp22.2." + }, + { + "input": "immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis", + "output": "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased tcr excision circles, decreased neutrophil chemotaxis, and t-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the rac2 gene on chromosome 22q13.1." + }, + { + "input": "nuclear type mitochondrial complex i deficiency", + "output": "A mitochondrial complex i deficiency that has_material_basis_in mutation in a gene in the nuclear genome." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 6", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compund heterozygous mutation in the ndufs2 gene on chromosome 1q23." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 25", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the ndufb3 gene on chromosome 2q33.1." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 5", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufs1 gene on chromosome 2q33.3." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 22", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufa10 gene on chromosome 2q37.3." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 18", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufaf3 gene on chromosome 2p21.31." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 31", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the timmdc1 gene on chromosome 3q13.33." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 20", + "output": "A nuclear type mitochondrial complex i deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex i activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the acad9 gene on chromosome 3q21.3." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 9", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufs6 gene on chromosome 5p15.33." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 1", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufs4 gene on chromosome 5q11.2." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 10", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufaf2 gene on chromosome 5q12.1." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 13", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufa2 gene on chromosome 5q31.3." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 15", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufaf4 gene on chromosome 6q16.1." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 17", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufaf6 gene on chromosome 8q22.1." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 24", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufb9 gene on chromosome 8q24.13." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 32", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufb8 gene on chromosome 10q24.31." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 8", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufs3 gene on chromosome 11p11.2." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 4", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufv1 gene on chromosome 11q13.2." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 2", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufs8 gene on chromosome 11q13.2." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 29", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the tmem126b gene on chromosome 11q14.1." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 19", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the foxred1 gene on chromosome 11q24.2." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 26", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufa9 gene on chromosome 12p13.32." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 23", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufa12 gene on chromosome 12q22." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 21", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the nubpl gene on chromosome 14q12." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 11", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufaf1 gene on chromosome 15q15.1." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 27", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mtfmt gene on chromosome 15q22.31." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 34", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufaf8 gene on chromosome 17q25.3." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 7", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufv2 gene on chromosome 18p11.22." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 3", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufs7 gene on chromosome 19p13.3." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 14", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufa11 gene on chromosome 19p13.3." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 28", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufa13 gene on chromosome 19p13.11." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 16", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufaf5 gene on chromosome 20p12.1." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 33", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufa6 gene on chromosome 22q13.2." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 30", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in hemizygous mutation in the ndufb11 gene on chromosome xp11.3." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 12", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in hemizygous mutation in the ndufa1 gene on chromosome xq24." + }, + { + "input": "mitochondrial type mitochondrial complex i deficiency", + "output": "A mitochondrial complex i deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome." + }, + { + "input": "mitochondrial type mitochondrial complex i deficiency 1", + "output": "A mitochondrial type mitochondrial complex i deficiency that has_material_basis_in mutation in mtnd3 in the mitochondrial genome." + }, + { + "input": "sotos syndrome 2", + "output": "A sotos syndrome that has_material_basis_in heterozygous mutation in the nfix gene on chromosome 19p13." + }, + { + "input": "sotos syndrome 1", + "output": "A sotos syndrome that has_material_basis_in heterozygous mutation in the nsd1 gene or deletion in the chromosome region 5q35 that includes the nsd1 gene." + }, + { + "input": "sotos syndrome 3", + "output": "A sotos syndrome that has_material_basis_in homozygous mutation in the apc2 gene on chromosome 19p13.3." + }, + { + "input": "x-linked parkinsonism-spasticity syndrome", + "output": "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the atp6ap2 gene on chromosome xp11.4." + }, + { + "input": "chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia", + "output": "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the hdac6 gene on chromosome xp11.23." + }, + { + "input": "mcleod syndrome", + "output": "A neuroacanthocytosis characterized by absence of red blood cell kx antigen, weak expression of kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in xk on chromosome xp21.1." + }, + { + "input": "myofibrillar myopathy 10", + "output": "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the svil gene on chromosome 10p11.23." + }, + { + "input": "spermatogenic failure 44", + "output": "A spermatogenic failure characterized by high prevelance of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the cep112 gene on chromosome 17q24.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 49", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mief2 gene on chromosome 17p11.2." + }, + { + "input": "combined oxidative phosphorylation deficiency 50", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mrps25 gene on chromosome 3p25.1." + }, + { + "input": "combined oxidative phosphorylation deficiency 48", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the nsun3 gene on chromosome 3q11.2." + }, + { + "input": "combined oxidative phosphorylation deficiency 45", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mrpl12 gene on chromosome 17q25.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 47", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mrps28 gene on chromosome 8q21.13." + }, + { + "input": "combined oxidative phosphorylation deficiency 46", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the mrps23 gene on chromosome 17q22." + }, + { + "input": "combined oxidative phosphorylation deficiency 43", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the timm22 gene on chromosome 17p13.3." + }, + { + "input": "combined oxidative phosphorylation deficiency 40", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the qrsl1 gene on chromosome 6q21." + }, + { + "input": "combined oxidative phosphorylation deficiency 42", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gatc gene on chromosome 12q24.31." + }, + { + "input": "combined oxidative phosphorylation deficiency 41", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gatb gene on chromosome 4q31.3." + }, + { + "input": "shox-related short stature", + "output": "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the shox gene or the shoxy gene on chromosomes xp22.33 and yp11.2, respectively." + }, + { + "input": "nephrogenic syndrome of inappropriate antidiuresis", + "output": "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the avpr2 gene on chromosome xq28." + }, + { + "input": "x-linked epilepsy with variable learning disabilities and behavior disorders", + "output": "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the syn1 gene on chromosome xp11.3-p11.2." + }, + { + "input": "deafness, dystonia, and cerebral hypomyelination", + "output": "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the golgi apparatus that has_material_basis_in heterozygous mutation in the bcap31 gene on chromosome xq28." + }, + { + "input": "x-linked retinitis pigmentosa and sinorespiratory infections", + "output": "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the rpgr gene on chromosome xp11.4." + }, + { + "input": "alpha-thalassemia myelodysplasia syndrome", + "output": "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the atrx gene on chromosome xq21.1." + }, + { + "input": "stocco dos santos type x-linked intellectual disability", + "output": "A syndromic x-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the shroom4 gene on chromosome xp11.22." + }, + { + "input": "hrpt-related hyperuricemia", + "output": "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the hprt1 gene on chromosome xq26.2-q26.3." + }, + { + "input": "x-linked severe congenital neutropenia", + "output": "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in was on chromosome xp11.23." + }, + { + "input": "severe congenital neutropenia 7", + "output": "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the csf3r gene on chromosome 1p34.3." + }, + { + "input": "autosomal dominant severe congenital neutropenia", + "output": "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene." + }, + { + "input": "severe congenital neutropenia 2", + "output": "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the gfi1 gene on chromosome 1p22.1." + }, + { + "input": "severe congenital neutropenia 5", + "output": "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to g-csf, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the vps45 gene on chromosome 1q21.2." + }, + { + "input": "severe congenital neutropenia 3", + "output": "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the hax1 gene on chromosome 1q21.3." + }, + { + "input": "severe congenital neutropenia 6", + "output": "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the jagn1 gene on chromosome 3p25.3." + }, + { + "input": "severe congenital neutropenia 8", + "output": "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the srp54 gene on chromosome 14q13.2." + }, + { + "input": "severe congenital neutropenia 4", + "output": "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the g6pc3 gene on chromosome 17q21.31." + }, + { + "input": "combined oxidative phosphorylation deficiency 51", + "output": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ptcd3 gene on chromosome 2p11.2." + }, + { + "input": "primary coenzyme q10 deficiency 9", + "output": "A coenzyme q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the coq5 gene on chromosome 12q24.31." + }, + { + "input": "nuclear type mitochondrial complex i deficiency 35", + "output": "A nuclear type mitochondrial complex i deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ndufb10 gene on chromosome 16p13.3." + }, + { + "input": "retinitis pigmentosa 83", + "output": "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in arl3 on chromosome 10q24.32." + }, + { + "input": "retinitis pigmentosa 84", + "output": "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the dhx38 gene on chromosome 16q22.2." + }, + { + "input": "retinitis pigmentosa 85", + "output": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in ahr on chromosome 7p21.1." + }, + { + "input": "retinitis pigmentosa 86", + "output": "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the kiaa1549 gene on chromosome 7q34." + }, + { + "input": "retinitis pigmentosa 87", + "output": "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the rpe65 gene on chromosome 1p31.3." + }, + { + "input": "retinitis pigmentosa 88", + "output": "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the rp1l1 gene on chromosome 8p23.1." + }, + { + "input": "retinitis pigmentosa 89", + "output": "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the kif3b gene on chromosome 20q11.21." + }, + { + "input": "retinitis pigmentosa 90", + "output": "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the idh3a gene on chromosome 15q25.1." + }, + { + "input": "uruguay faciocardiomusculoskeletal syndrome", + "output": "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the fhl1 gene on chromosome xq26.3." + }, + { + "input": "terminal osseous dysplasia", + "output": "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the flna gene on chromosome xq28." + }, + { + "input": "x-linked spondyloepimetaphyseal dysplasia", + "output": "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in bgn on chromosome xq28." + }, + { + "input": "corpus callosum agenesis-abnormal genitalia syndrome", + "output": "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in arx on chromosome xp21.3." + }, + { + "input": "chime syndrome", + "output": "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the pigl gene on chromosome 17p11.2." + }, + { + "input": "hypomyelinating leukodystrophy 20", + "output": "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in cnp on chromosome 17q21.2." + }, + { + "input": "inflammatory bowel disease 30", + "output": "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with crohn disease that has_material_basis_in heterozygous mutation in the card8 gene on chromosome 19q13.33." + }, + { + "input": "inflammatory bowel disease 29", + "output": "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the inava gene on chromosome 1q32.1." + }, + { + "input": "x-linked dyserythropoietic anemia", + "output": "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the gata1 gene on chromosome xp11.23. this mutaion impairs expression of the long isoform of gata1 but expression of a short form is seen." + }, + { + "input": "x-linked atrophic macular degeneration", + "output": "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in rpgr on chromosome xp11.4." + }, + { + "input": "de sanctis-cacchione syndrome", + "output": "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration." + }, + { + "input": "autosomal dominant nonsyndromic deafness 78", + "output": "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the slc12a2 gene on chromosome 5q23.3." + }, + { + "input": "autosomal dominant nonsyndromic deafness 79", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the scd5 gene on chromosome 4q21.22." + }, + { + "input": "noonan syndrome 13", + "output": "A noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the mapk1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase." + }, + { + "input": "autosomal recessive nonsyndromic deafness 116", + "output": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the cldn9 gene on chromosome 16p13.3." + }, + { + "input": "spermatogenic failure 45", + "output": "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the dnah2 gene on chromosome 17p13.1." + }, + { + "input": "spermatogenic failure 46", + "output": "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the dnah8 gene on chromosome 6p21.2." + }, + { + "input": "autosomal dominant nonsyndromic deafness 74", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the pde1c gene on chromosome 7p14.3." + }, + { + "input": "autosomal dominant nonsyndromic deafness 75", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the trrap gene on chromosome 7q22.1." + }, + { + "input": "autosomal dominant nonsyndromic deafness 76", + "output": "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the pls1 gene on chromosome 3q23." + }, + { + "input": "autosomal dominant nonsyndromic deafness 77", + "output": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the abcc1 gene on chromosome 16p13.11." + }, + { + "input": "noonan syndrome 11", + "output": "A noonan syndrome characterized by clinical characteristics of noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the mras gene on chromosome 3q22.3." + }, + { + "input": "noonan syndrome 12", + "output": "A noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other noonan syndrome features that has_material_basis_in heterozygous mutation in the rras2 gene on chromosome 11p15.2." + }, + { + "input": "wrinkly skin syndrome", + "output": "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the atp6v0a2 gene on chromosome 12q24.31." + }, + { + "input": "hereditary combined deficiency of vitamin k-dependent clotting factors", + "output": "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin k-dependent blood coagulation factors and the anticoagulant factors protein c and protein s resulting in a bleeding tendency that is usually reversed by oral administration of vitamin k that has_material_basis_in a heritable mutation." + }, + { + "input": "combined deficiency of vitamin k-dependent clotting factors 1", + "output": "A hereditary combined deficiency of vitamin k-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the ggcx gene on chromosome 2p11.2." + }, + { + "input": "combined deficiency of vitamin k-dependent clotting factors 2", + "output": "A hereditary combined deficiency of vitamin k-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the vkorc1 gene on chromosome 16p11.2." + }, + { + "input": "spermatogenic failure 47", + "output": "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the dzip1 gene on chromosome 13q32.1." + }, + { + "input": "spermatogenic failure 48", + "output": "A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in m1ap on chromosome 2p13.1." + }, + { + "input": "mayer-rokitansky-kuster-hauser syndrome", + "output": "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,xx karyotype." + }, + { + "input": "mayer-rokitansky-kuster-hauser syndrome type 1", + "output": "A mayer-rokitansky-kuster-hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 xx karyotype." + }, + { + "input": "mayer-rokitansky-kuster-hauser syndrome type 2", + "output": "A mayer-rokitansky-kuster-hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects." + }, + { + "input": "urocanase deficiency", + "output": "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the uroc1 gene on chromosome 3q21.3." + }, + { + "input": "schinzel type phocomelia", + "output": "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the wnt7a gene on chromosome 3p25.1." + }, + { + "input": "mismatch repair cancer syndrome", + "output": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes mlh1, msh2, msh6, or pms2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively." + }, + { + "input": "familial thyroid dyshormonogenesis", + "output": "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis." + }, + { + "input": "thyroid dyshormonogenesis 5", + "output": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in duoxa2 on chromosome 15q21.1." + }, + { + "input": "thyroid dyshormonogenesis 1", + "output": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in slc5a5 on chromosome 19p13.11." + }, + { + "input": "thyroid dyshormonogenesis 2a", + "output": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in tpo on chromosome 2p25.3." + }, + { + "input": "thyroid dyshormonogenesis 3", + "output": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in tg on chromosome 8q24.22." + }, + { + "input": "thyroid dyshormonogenesis 4", + "output": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in iyd on chromosome 6q25.1." + }, + { + "input": "thyroid dyshormonogenesis 6", + "output": "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in duox2 on chromosome 15q21.1." + }, + { + "input": "distal arthrogryposis type 1c", + "output": "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the mylpf gene on chromosome 16p11.2." + }, + { + "input": "tetraamelia syndrome", + "output": "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system." + }, + { + "input": "tetraamelia syndrome 1", + "output": "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in wnt3 on chromosome 17q21.31-q21.32." + }, + { + "input": "tetraamelia syndrome 2", + "output": "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in rspo2 on chromosome 8q23.1." + }, + { + "input": "filippi syndrome", + "output": "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the ckap2l gene on chromosome 2q14.1." + }, + { + "input": "spondyloperipheral dysplasia", + "output": "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type e changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the col2a1 gene on chromosome 12q13.11." + }, + { + "input": "spondylometaepiphyseal dysplasia, short limb-hand type", + "output": "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the ddr2 gene on chromosome 1q23.3." + }, + { + "input": "spondyloepimetaphyseal dysplasia with joint laxity", + "output": "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility." + }, + { + "input": "spondyloepimetaphyseal dysplasia with joint laxity type 1", + "output": "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the b3galt6 gene on chromosome 1p36.33." + }, + { + "input": "spondyloepimetaphyseal dysplasia with joint laxity type 2", + "output": "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in kif22 on chromosome 16p11.2." + }, + { + "input": "spondyloepimetaphyseal dysplasia with joint laxity type 3", + "output": "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the exoc6b gene on chromosome 2p13.2." + }, + { + "input": "osteogenesis imperfecta type 21", + "output": "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in kdelr2 on chromosome 7p22.1." + }, + { + "input": "developmental and epileptic encephalopathy", + "output": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood." + }, + { + "input": "developmental and epileptic encephalopathy 67", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the cux2 gene on chromosome 12q24.11-q24.12." + }, + { + "input": "developmental and epileptic encephalopathy 68", + "output": "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the trak1 gene on chromosome 3p22.1." + }, + { + "input": "developmental and epileptic encephalopathy 69", + "output": "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the cacna1e gene on chromosome 1q25.3." + }, + { + "input": "developmental and epileptic encephalopathy 70", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on eeg, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the phactr1 gene on chromosome 6p24.1." + }, + { + "input": "developmental and epileptic encephalopathy 71", + "output": "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in gls on chromosome 2q32.2." + }, + { + "input": "developmental and epileptic encephalopathy 72", + "output": "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on eeg, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the neurod2 gene on chromosome 17q12." + }, + { + "input": "developmental and epileptic encephalopathy 73", + "output": "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the rnf13 gene on chromosome 3q25.1." + }, + { + "input": "developmental and epileptic encephalopathy 74", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the gabrg2 gene on chromosome 5q34." + }, + { + "input": "developmental and epileptic encephalopathy 75", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on eeg, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the pars2 gene on chromosome 1p32.3." + }, + { + "input": "developmental and epileptic encephalopathy 76", + "output": "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the actl6b gene on chromosome 7q22.1." + }, + { + "input": "multiple congenital anomalies-hypotonia-seizures syndrome 4", + "output": "A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the pigq gene on chromosome 16p13.3." + }, + { + "input": "developmental and epileptic encephalopathy 78", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the gabra2 gene on chromosome 4p12." + }, + { + "input": "developmental and epileptic encephalopathy 79", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the gabra5 gene on chromosome 15q12." + }, + { + "input": "developmental and epileptic encephalopathy 80", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the pigb gene on chromosome 15q21.3." + }, + { + "input": "developmental and epileptic encephalopathy 81", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the dmxl2 gene on chromosome 15q21.2." + }, + { + "input": "developmental and epileptic encephalopathy 83", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the ugp2 gene on chromosome 2p15." + }, + { + "input": "developmental and epileptic encephalopathy 84", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the ugdh gene on chromosome 4p14." + }, + { + "input": "developmental and epileptic encephalopathy 86", + "output": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the dalrd2 gene on chromosome 3p21.31." + }, + { + "input": "developmental and epileptic encephalopathy 87", + "output": "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the cdk19 gene on chromosome 6q21." + }, + { + "input": "developmental and epileptic encephalopathy 88", + "output": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the mdh1 gene on chromosome 2p15." + }, + { + "input": "developmental and epileptic encephalopathy 89", + "output": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the gad1 gene on chromosome 2q31.1." + }, + { + "input": "chondrodysplasia with joint dislocations gpapp type", + "output": "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the impad1 gene on chromosome 8q12." + }, + { + "input": "bh4-deficient hyperphenylalaninemia b", + "output": "A tetrahydrobiopterin (bh4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the gch1 gene on chromosome 14q22.2." + }, + { + "input": "bosch-boonstra-schaaf optic atrophy syndrome", + "output": "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the nr2f1 gene on chromosome 5q15." + }, + { + "input": "tubulinopathy", + "output": "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes." + }, + { + "input": "lissencephaly 9 with complex brainstem malformation", + "output": "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the macf1 gene on chromosome 1p34.3." + }, + { + "input": "lissencephaly 10", + "output": "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the cep85l gene on chromosome 6q22.31." + }, + { + "input": "lissencephaly 5", + "output": "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the lamb1 gene on chromosome 7q31.1." + }, + { + "input": "lissencephaly 7 with cerebellar hypoplasia", + "output": "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the cdk5 gene on chromosome 7q36.1." + }, + { + "input": "lissencephaly 3", + "output": "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the tuba1a gene on chromosome 12q13.12." + }, + { + "input": "lissencephaly 8", + "output": "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the tmtc3 gene on chromosome 12q21.32." + }, + { + "input": "microlissencephaly", + "output": "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly." + }, + { + "input": "lissencephaly 4", + "output": "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the nde1 gene on chromosome 16p13.11." + }, + { + "input": "lissencephaly 6", + "output": "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the katnb1 gene on chromosome 16q21." + }, + { + "input": "lissencephaly 1", + "output": "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the pafah1b1 gene on chromosome 17p13.3." + }, + { + "input": "x-linked lissencephaly 2", + "output": "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in arx on chromosome xp21.3." + }, + { + "input": "x-linked lissencephaly 1", + "output": "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in dcx on chromosome xq23." + }, + { + "input": "leber congenital amaurosis with early-onset deafness", + "output": "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the tubb4b gene on chromosome 9q34.3." + }, + { + "input": "multiple benign circumferential skin creases on limbs", + "output": "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin." + }, + { + "input": "congenital symmetric circumferential skin creases 1", + "output": "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the tubb gene on chromosome 6p21.33." + }, + { + "input": "congenital symmetric circumferential skin creases 2", + "output": "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the mapre2 gene on chromosome 18q12.1-q12.2." + }, + { + "input": "alopecia, neurologic defects, and endocrinopathy syndrome", + "output": "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the rbm28 gene on chromosome 7q32.1." + }, + { + "input": "focal segmental glomerulosclerosis 3", + "output": "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the cd2ap gene on chromosome 6p12.3." + }, + { + "input": "glutaric acidemia type 3", + "output": "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the sugct gene on chromosome 7p14.1." + }, + { + "input": "congenital heart defects, dysmorphic facial features, and intellectual developmental disorder", + "output": "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the cdk13 gene on chromosome 7p14.1." + }, + { + "input": "17-beta hydroxysteroid dehydrogenase 3 deficiency", + "output": "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the hsd17b3 gene on chromosome 9q22." + }, + { + "input": "gapo syndrome", + "output": "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the antxr1 gene on chromosome 2p13.3." + }, + { + "input": "gaucher's disease type iiic", + "output": "A gaucher's disease type iii characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (d409h) mutation in the gba1 gene on chromosome 1q22." + }, + { + "input": "ghosal hematodiaphyseal syndrome", + "output": "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in tbxas1 on chromosome 7q34." + }, + { + "input": "glutathione synthetase deficiency of erythrocytes", + "output": "A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in gsh that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in gss on chromosome 20q11.22." + }, + { + "input": "combined cellular and humoral immune defects with granulomas", + "output": "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the rag1 gene or the rag2 gene on chromosome 11p12." + }, + { + "input": "hepatic venoocclusive disease with immunodeficiency", + "output": "A syndrome characterized by severe hypogammaglobulinemia, combined t and b cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the sp110 gene on chromosome 2q37.1." + }, + { + "input": "homocystinuria-megaloblastic anemia cble type", + "output": "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the mtrr gene on chromosome 5p15.31." + }, + { + "input": "homocystinuria-megaloblastic anemia cblg type", + "output": "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in mtr on chromosome 1q43." + }, + { + "input": "hydroxykynureninuria", + "output": "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the kynu gene on chromosome 2q22.2." + }, + { + "input": "n-acetylglutamate synthase deficiency", + "output": "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the nags gene on chromosome 17q21.31." + }, + { + "input": "leydig cell hypoplasia", + "output": "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the lhcgr gene on chromosome 2p16.3." + }, + { + "input": "leydig cell hypoplasia type i", + "output": "A leydig cell hypoplasia characterized by 46,xy male pseudohermaphroditism, low testosterone and high lh levels, total lack of responsiveness to lh/cg challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the lhcgr gene on chromosome 2p16.3." + }, + { + "input": "leydig cell hypoplasia type ii", + "output": "A leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the lhcgr gene on chromosome 2p16.3." + }, + { + "input": "leucine-sensitive hypoglycemia of infancy", + "output": "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the sur1 gene on chromosome 11p15.1." + }, + { + "input": "hypoinsulinemic hypoglycemia with hemihypertrophy", + "output": "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the akt2 gene on chromosome 19q13.2." + }, + { + "input": "woodhouse-sakati syndrome", + "output": "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the dcaf17 gene on chromosome 2q31.1." + }, + { + "input": "iminoglycinuria", + "output": "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in slc36a2 on chromosome 5q33.1 combined with either heterozygous mutation in slc6a20 gene on chromosome 3p21.31 or homozygous mutation in slc6a19 on chromosome 5p15.33." + }, + { + "input": "nephrotic syndrome type 23", + "output": "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the kirrel1 gene on chromosome 1q23.1." + }, + { + "input": "nephrotic syndrome type 21", + "output": "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the avil gene on chromosome 12q14.1." + }, + { + "input": "nephrotic syndrome type 22", + "output": "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the nos1ap gene on chromosome 1q23.3." + }, + { + "input": "primary ovarian insufficiency 18", + "output": "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in c14orf39 on chromosome 14q23.1." + }, + { + "input": "spermatogenic failure 52", + "output": "A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in c14orf39 on chromosome 14q23.1." + }, + { + "input": "spermatogenic failure 49", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the cfap58 gene on chromosome 10q25.1." + }, + { + "input": "spermatogenic failure 50", + "output": "A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase i that has_material_basis_in homozygous or compound heterozygous mutation in the xrcc2 gene on chromosome 7q36.1." + }, + { + "input": "spermatogenic failure 51", + "output": "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the cfap91 gene on chromosome 3q13.33." + }, + { + "input": "x-linked spermatogenic failure 3", + "output": "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the cfap47 gene on chromosome xp21.1." + }, + { + "input": "developmental and epileptic encephalopathy 93", + "output": "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the atp6v1a gene on chromosome 3q13.31." + }, + { + "input": "neurodevelopmental disorder with involuntary movements", + "output": "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the gnao1 gene on chromosome 16q13." + }, + { + "input": "immunodeficiency 79", + "output": "A t cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the cd4 antigen on t cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in cd4 on chromosome 12p13." + }, + { + "input": "primary ovarian insufficiency 19", + "output": "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the hsf2bp gene on chromosome 21q22." + }, + { + "input": "spermatogenic failure 53", + "output": "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the actl9 gene on chromosome 19p13.2." + }, + { + "input": "spondyloepiphyseal dysplasia", + "output": "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs." + }, + { + "input": "spondyloepiphyseal dysplasia stanescu type", + "output": "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in col2a1 on chromosome 12q13.11." + }, + { + "input": "spondyloepiphyseal dysplasia kimberley type", + "output": "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the acan gene on chromosome 15q26.1." + }, + { + "input": "spondyloepiphyseal dysplasia kondo-fu type", + "output": "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the mbtps1 gene on chromosome 16q23.3-q24.1." + }, + { + "input": "spondyloepiphyseal dysplasia tarda", + "output": "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth." + }, + { + "input": "autosomal dominant spondyloepiphyseal dysplasia tarda", + "output": "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13." + }, + { + "input": "spondyloepiphyseal dysplasia with punctate corneal dystrophy", + "output": "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma." + }, + { + "input": "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech", + "output": "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech." + }, + { + "input": "spondyloepiphyseal dysplasia nishimura type", + "output": "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the mir140 gene on chromosome 16q22.1." + }, + { + "input": "spondyloepiphyseal dysplasia tarda with characteristic facies", + "output": "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay." + }, + { + "input": "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and leber congenital amaurosis", + "output": "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in nmnat1 on chromosome 1p36.22." + }, + { + "input": "autosomal recessive spondyloepiphyseal dysplasia tarda leroy-spranger type", + "output": "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities." + }, + { + "input": "spondyloepiphyseal dysplasia tarda with intellectual disability", + "output": "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability." + }, + { + "input": "autosomal recessive spondyloepiphyseal dysplasia tarda", + "output": "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease." + }, + { + "input": "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability", + "output": "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability." + }, + { + "input": "spondylometaphyseal dysplasia", + "output": "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions." + }, + { + "input": "spondylometaphyseal dysplasia algerian type", + "output": "A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet." + }, + { + "input": "spondylometaphyseal dysplasia corner fracture type", + "output": "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in fn1 on chromosome 2q35." + }, + { + "input": "spondylometaphyseal dysplasia sedaghatian type", + "output": "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the gpx4 gene on chromosome 19p13.3." + }, + { + "input": "axial spondylometaphyseal dysplasia", + "output": "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the cfap410 gene on chromosome 21q22.3." + }, + { + "input": "spondylometaphyseal dysplasia with cone-rod dystrophy", + "output": "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the pcyt1a gene on chromosome 3q29." + }, + { + "input": "spondylometaphyseal dysplasia type a4", + "output": "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities." + }, + { + "input": "spondylometaphyseal dysplasia east african type", + "output": "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies." + }, + { + "input": "spondylometaphyseal dysplasia with corneal dystrophy", + "output": "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the plcb3 gene on chromosome 11q13.1." + }, + { + "input": "spondylometaphyseal dysplasia megarbane-dagher-melike type", + "output": "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the pam16 gene on chromosome 16p13.3." + }, + { + "input": "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism", + "output": "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia." + }, + { + "input": "mahvash disease", + "output": "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the gcgr gene on chromosome 17q25.3." + }, + { + "input": "sarcosinemia", + "output": "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the sardh gene on chromosome 9q34.2." + }, + { + "input": "central precocious puberty", + "output": "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys." + }, + { + "input": "central precocious puberty 2", + "output": "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the mkrn3 gene on chromosome 15q11.2." + }, + { + "input": "central precocious puberty 1", + "output": "A central precocious puberty that has_material_basis_in heterozygous mutation in the kiss1r gene on chromosome 19p13." + }, + { + "input": "male infertility due to acephalic spermatozoa", + "output": "A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads." + }, + { + "input": "male infertility due to globozoospermia", + "output": "A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects." + }, + { + "input": "brain small vessel disease", + "output": "A brain disease characterized by abnormalities in the small blood vessels in the brain." + }, + { + "input": "brain small vessel disease 2", + "output": "A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in col4a2 on chromosome 13q34." + }, + { + "input": "brain small vessel disease 3", + "output": "A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the colgalt1 gene on chromosome 19p13.11." + }, + { + "input": "methemoglobinemia and ambiguous genitalia", + "output": "A disorder of sexual development characterized by severely reduced 17,20-lyase activity of cyp17a1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the cyb5a gene on chromosome 18q22.3." + }, + { + "input": "schindler disease", + "output": "A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the naga gene on chromosome 22q13.2." + }, + { + "input": "schindler disease type 1", + "output": "A schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the naga gene on chromosome 22q13.2." + }, + { + "input": "kanzaki disease", + "output": "A schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-n-galactosaminidase (naga) on chromosome 22q13." + }, + { + "input": "schindler disease type 3", + "output": "A schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the naga gene on chromosome 22q13.2." + }, + { + "input": "alacrima, achalasia, and impaired intellectual development syndrome", + "output": "A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gmppa gene on chromosome 2q35." + }, + { + "input": "pontocerebellar hypoplasia type 1", + "output": "A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia." + }, + { + "input": "pontocerebellar hypoplasia type 1d", + "output": "A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the exosc9 gene on chromosome 4q27." + }, + { + "input": "pontocerebellar hypoplasia type 11", + "output": "A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the tbc1d23 gene on chromosome 3q12.1-q12.2." + }, + { + "input": "pontocerebellar hypoplasia type 14", + "output": "A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the ppil1 gene on chromosome 6p21.2." + }, + { + "input": "pontocerebellar hypoplasia type 15", + "output": "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the cdc40 gene on chromosome 6q21." + }, + { + "input": "pontocerebellar hypoplasia type 12", + "output": "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the coasy gene on chromosome 17q21.2." + }, + { + "input": "pontocerebellar hypoplasia type 2", + "output": "A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy." + }, + { + "input": "pontocerebellar hypoplasia type 2f", + "output": "A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the tsen15 gene on chromosome 1q25.3." + }, + { + "input": "pontocerebellar hypoplasia type 1e", + "output": "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the slc25a46 gene on chromosome 5q22.1." + }, + { + "input": "pontocerebellar hypoplasia type 1f", + "output": "A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the exosc1 gene on chromosome 10q24.1." + }, + { + "input": "pontocerebellar hypoplasia type 13", + "output": "A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the vps51 gene on chromosome 11q13.1." + }, + { + "input": "pontocerebellar hypoplasia type 16", + "output": "A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the minpp1 gene on chromosome 10q23.2." + }, + { + "input": "pontocerebellar hypoplasia type 1c", + "output": "A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the exosc8 gene on chromosome 13q13.3." + }, + { + "input": "spermatogenic failure 54", + "output": "A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the catip gene on chromosome 2q35." + }, + { + "input": "spermatogenic failure 56", + "output": "A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the dnah10 gene on chromosome 12q24.31." + }, + { + "input": "spermatogenic failure 55", + "output": "A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the spag17 gene on chromosome 1p12." + }, + { + "input": "spermatogenic failure 57", + "output": "A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the pnldc1 gene on chromosome 6q25.3." + }, + { + "input": "tatton-brown-rahman syndrome", + "output": "A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the dnmt3a gene on chromosome 2p23.3." + }, + { + "input": "craniotubular dysplasia ikegawa type", + "output": "A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the tmem53 gene on chromosome 1p34.1." + }, + { + "input": "hereditary spastic paraplegia 80", + "output": "A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the ubap1 gene on chromosome 9p13.3." + }, + { + "input": "hereditary spastic paraplegia 86", + "output": "A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the abhd16a gene on chromosome 6p21.33." + }, + { + "input": "hereditary spastic paraplegia 82", + "output": "A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the pcyt2 gene on chromosome 17q25.3." + }, + { + "input": "hereditary spastic paraplegia 79b", + "output": "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the uchl1 gene on chromosome 4p13." + }, + { + "input": "hereditary spastic paraplegia 85", + "output": "A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the rnf170 gene on chromosome 8p11.21." + }, + { + "input": "hereditary spastic paraplegia 83", + "output": "A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the hpdl gene on chromosome 1p34.1." + }, + { + "input": "hereditary spastic paraplegia 84", + "output": "A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the pi4ka gene on chromosome 22q11.21." + }, + { + "input": "hereditary spastic paraplegia 78", + "output": "A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the atp13a2 gene on chromosome 1p36.13." + }, + { + "input": "hereditary spastic paraplegia 81", + "output": "A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the selenoi gene on chromosome 2p23.3." + }, + { + "input": "spermatogenic failure 61", + "output": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the stag3 gene on chromosome 7q22.1." + }, + { + "input": "spermatogenic failure 62", + "output": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the rnf212 gene on chromosome 4p16.3." + }, + { + "input": "spermatogenic failure 58", + "output": "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the ift74 gene on chromosome 9p21.2." + }, + { + "input": "spermatogenic failure 64", + "output": "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the fbxo43 gene on chromosome 8q22.2." + }, + { + "input": "spermatogenic failure 65", + "output": "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the dhnd1 gene on chromosome 11p15.4." + }, + { + "input": "spermatogenic failure 60", + "output": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the terb1 gene on chromosome 16q22.1." + }, + { + "input": "spermatogenic failure 63", + "output": "A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the rpl10l gene on chromosome 14q21.2." + }, + { + "input": "spermatogenic failure 59", + "output": "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the terb2 gene on chromosome 15q21.1." + }, + { + "input": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies", + "output": "A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the scube3 gene on chromosome 6p21.31." + }, + { + "input": "congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay", + "output": "A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the pbx1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the pbx1 gene." + }, + { + "input": "spondylocostal dysostosis 6", + "output": "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the ripply2 gene on chromosome 6q14.2." + }, + { + "input": "spondylocostal dysostosis 3", + "output": "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the lfng gene on chromosome 7p22.3." + }, + { + "input": "spondylocostal dysostosis 2", + "output": "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the mesp2 gene on chromosome 15q26.1." + }, + { + "input": "spondylocostal dysostosis 5", + "output": "A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compund heterozygous mutation in the tbx6 gene on chromosome 16p11.2." + }, + { + "input": "spondylocostal dysostosis 4", + "output": "A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the hes7 gene on chromosome 17p13.1." + }, + { + "input": "spondylocostal dysostosis 1", + "output": "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the dll3 gene on chromosome 19q13.2." + }, + { + "input": "coffin-siris syndrome 8", + "output": "A coffin-siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the smarcc2 gene on chromosome 12q13." + }, + { + "input": "coffin-siris syndrome 5", + "output": "A coffin-siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the smarce1 gene on chromosome 17q21.2." + }, + { + "input": "coffin-siris syndrome 7", + "output": "A coffin-siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the dpf2 gene on chromosome 11q13.1." + }, + { + "input": "coffin-siris syndrome 12", + "output": "A coffin-siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the bicra gene on chromosome 19q13.33." + }, + { + "input": "coffin-siris syndrome 10", + "output": "A coffin-siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the sox4 gene on chromosome 6p22.3." + }, + { + "input": "coffin-siris syndrome 11", + "output": "A coffin-siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the smarcd1 gene on chromosome 12q13.12." + }, + { + "input": "autosomal dominant auditory neuropathy 3", + "output": "An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the tmem43 gene on chromosome 3p25.1." + }, + { + "input": "muscular dystrophy-dystroglycanopathy", + "output": "A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b", + "output": "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b15", + "output": "A muscular dystrophy-dystroglycanopathy type b that has_material_basis_in homozygous or compound heterozygous mutation in the dpm3 gene on chromosome 1q22." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b14", + "output": "A muscular dystrophy-dystroglycanopathy type b that has_material_basis_in homozygous or compound heterozygous mutation in the gmppb gene on chromosome 3p21.31." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b3", + "output": "A muscular dystrophy-dystroglycanopathy type b that has_material_basis_in homozygous or compound heterozygous mutation in the pomgnt1 gene on chromosome 1p34.1." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b4", + "output": "A muscular dystrophy-dystroglycanopathy type b characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the fktn gene on chromosome 9q31.2." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type b2", + "output": "A muscular dystrophy-dystroglycanopathy type b that has_material_basis_in homozygous or compound heterozygous mutation in the pomt2 gene on chromosome 14q24.3." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type c12", + "output": "A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the pomk gene on chromosome 8p11.21." + }, + { + "input": "muscular dystrophy-dystroglycanopathy type c8", + "output": "A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the pomgnt2 gene on chromosome 3p22.1." + }, + { + "input": "kinsship syndrome", + "output": "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the aff3 gene on chromosome 2q11.2." + }, + { + "input": "multisystem proteinopathy", + "output": "A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system." + }, + { + "input": "intestinal infectious disease", + "output": "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites." + }, + { + "input": "sensorineural hearing loss", + "output": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem." + }, + { + "input": "thyroid lymphoma", + "output": "A thyroid gland cancer that has_material_basis_in lymphocytes." + }, + { + "input": "multiple endocrine neoplasia type 2b", + "output": "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities." + }, + { + "input": "multiple endocrine neoplasia type 1", + "output": "A multiple endocrine neoplasia that has_material_basis_in a mutation in the men1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas." + }, + { + "input": "endometritis", + "output": "An endometrial disease that is characterized by inflammation of the endometrium." + }, + { + "input": "ampulla of vater cancer", + "output": "A duodenum cancer that is located_in the ampulla of vater." + }, + { + "input": "duodenum cancer", + "output": "A small intestine cancer that is located_in the beginning section of the small intestine." + }, + { + "input": "ampulla of vater benign neoplasm", + "output": "A duodenal benign neoplasm that is located_in the ampulla of vater." + }, + { + "input": "migraine with aura", + "output": "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon." + }, + { + "input": "tabes dorsalis", + "output": "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. the infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction." + }, + { + "input": "pelvic inflammatory disease", + "output": "A female reproductive system disease that is characterized by an infection of the female reproductive organs." + }, + { + "input": "pulmonary interstitial emphysema", + "output": "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation." + }, + { + "input": "compensatory emphysema", + "output": "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung." + }, + { + "input": "hyperlucent lung", + "output": "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or ct." + }, + { + "input": "cycloplegia", + "output": "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation." + }, + { + "input": "eye accommodation disease", + "output": "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image." + }, + { + "input": "asymptomatic neurosyphilis", + "output": "A tertiary neurosyphilis that results_in mild meningitis." + }, + { + "input": "late congenital syphilis", + "output": "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. the infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities." + }, + { + "input": "malignant eyelid melanoma", + "output": "A skin melanoma that arises from the upper or lower eyelid." + }, + { + "input": "dysplastic nevus syndrome", + "output": "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members." + }, + { + "input": "balloon cell malignant melanoma", + "output": "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm." + }, + { + "input": "nodular malignant melanoma", + "output": "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule." + }, + { + "input": "endometrial disease", + "output": "A uterine disease that is located_in the endometrium." + }, + { + "input": "skin amelanotic melanoma", + "output": "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells." + }, + { + "input": "subglottis benign neoplasm", + "output": "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx." + }, + { + "input": "larynx leiomyoma", + "output": "A laryngeal benign neoplasm that derives_from smooth muscle cells." + }, + { + "input": "larynx squamous papilloma", + "output": "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness." + }, + { + "input": "syphilitic meningitis", + "output": "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord." + }, + { + "input": "hymenolepiasis", + "output": "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." + }, + { + "input": "diphyllobothriasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection caused by diphyllobothrium latum through the consumption of raw or undercooked fish. the symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin b12 deficiency with pernicious anemia." + }, + { + "input": "cysticercosis", + "output": "A taeniasis that results from ingestion of eggs or larvae of the taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions." + }, + { + "input": "sparganosis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus spirometra. a painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected." + }, + { + "input": "syphilitic encephalitis", + "output": "An encephalitis that has_material_basis_in central neural system infection by treponema pallidum." + }, + { + "input": "gastric leiomyoma", + "output": "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." + }, + { + "input": "intracranial abscess", + "output": "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull." + }, + { + "input": "sleeping sickness", + "output": "A trypanosomiasis that results from infection by trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (glossina spp). the symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances." + }, + { + "input": "trypanosomiasis", + "output": "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus trypanosoma in animals and humans." + }, + { + "input": "hyperpigmentation of eyelid", + "output": "An eyelid disease that is characterized by dark eyelids." + }, + { + "input": "pigmentation disease", + "output": "A skin disease that is characterized by discoloration of the skin." + }, + { + "input": "corneal disease", + "output": "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction." + }, + { + "input": "acute hydrops keratoconus", + "output": "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in descemet's membrane." + }, + { + "input": "keratoconus", + "output": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape." + }, + { + "input": "cerebral artery occlusion", + "output": "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries." + }, + { + "input": "venous insufficiency", + "output": "A vein disease that is characterized by impaired flow of blood through the veins." + }, + { + "input": "psychologic vaginismus", + "output": "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause." + }, + { + "input": "psychosexual disorder", + "output": "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin." + }, + { + "input": "xerophthalmia", + "output": "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin a deficiency." + }, + { + "input": "conjunctival degeneration", + "output": "Unspecified conjunctival degenerations" + }, + { + "input": "dry eye syndrome", + "output": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface." + }, + { + "input": "thymus lymphoma", + "output": "A thymus cancer that arises from the thymus." + }, + { + "input": "long bones of lower limb cancer", + "output": "A bone cancer that is manifested in the long bones of the lower limb." + }, + { + "input": "malignant neoplasm of short bones of lower limb", + "output": "A bone cancer that is located in the short bones of lower limbs." + }, + { + "input": "meckel's diverticulum cancer", + "output": "An ileum cancer originating from meckel's diverticulum." + }, + { + "input": "ileum cancer", + "output": "A small intestine cancer that is located_in the ileum." + }, + { + "input": "small intestine cancer", + "output": "An intestinal cancer that is located_in the small intestine." + }, + { + "input": "intestinal cancer", + "output": "A gastrointestinal system cancer that is located_in the intestine." + }, + { + "input": "benign ileal neoplasm", + "output": "A small intestine benign neoplasm that affects the wall of the ileum." + }, + { + "input": "osteonecrosis", + "output": "An ischemic bone disease that results_in necrosis located_in bone." + }, + { + "input": "lacrimal passage granuloma", + "output": "Granuloma of lacrimal passages" + }, + { + "input": "optic papillitis", + "output": "An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc." + }, + { + "input": "neuroretinitis", + "output": "An eye disease that is characterized by inflammation of the retina." + }, + { + "input": "endobronchial lipoma", + "output": "A lipoma that is located within the lumen of a bronchus." + }, + { + "input": "spindle cell lipoma", + "output": "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men." + }, + { + "input": "esophageal lipoma", + "output": "A lipoma located in the esophagus." + }, + { + "input": "skin lipoma", + "output": "A skin benign neoplasm that derives_from fat cells." + }, + { + "input": "osteomyelitis", + "output": "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow." + }, + { + "input": "liver lipoma", + "output": "A lipoma located in the liver." + }, + { + "input": "pleomorphic lipoma", + "output": "A lipoma that is characterized by floret giant cells with overlapping nuclei." + }, + { + "input": "conventional lipoma", + "output": "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones." + }, + { + "input": "kidney lipoma", + "output": "A lipoma that is located in the kidney." + }, + { + "input": "pleural lipoma", + "output": "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura." + }, + { + "input": "breast lipoma", + "output": "A breast benign neoplasm that is composed of lipocytes." + }, + { + "input": "chest wall lipoma", + "output": "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall." + }, + { + "input": "gallbladder lipoma", + "output": "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells." + }, + { + "input": "external ear lipoma", + "output": "An auditory system benign neoplasm that is located in the external ear." + }, + { + "input": "axillary lipoma", + "output": "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue." + }, + { + "input": "lipoma of spermatic cord", + "output": "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells." + }, + { + "input": "paratesticular lipoma", + "output": "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region." + }, + { + "input": "chondroid lipoma", + "output": "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women." + }, + { + "input": "extrahepatic bile duct lipoma", + "output": "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells." + }, + { + "input": "pinta disease", + "output": "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. the infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic." + }, + { + "input": "dermatomyositis", + "output": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. the disease may result from either a viral infection or an autoimmune reaction." + }, + { + "input": "borderline leprosy", + "output": "A leprosy that results in small numerous red irregularly shaped plaques." + }, + { + "input": "aortic atherosclerosis", + "output": "Atherosclerosis of aorta" + }, + { + "input": "brown's tendon sheath syndrome", + "output": "A mechanical strabismus that is characterized by impairment of eye movements." + }, + { + "input": "exhibitionism", + "output": "A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger." + }, + { + "input": "leprosy", + "output": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. the infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage." + }, + { + "input": "thalassemia", + "output": "A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains." + }, + { + "input": "ehrlichiosis", + "output": "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in ehrlichia chaffeensis or anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. the infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash." + }, + { + "input": "pleurisy", + "output": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs." + }, + { + "input": "tuberculoid leprosy", + "output": "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center." + }, + { + "input": "louping ill", + "output": "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in louping ill virus, which is transmitted by sheep tick, ixodes ricinus. the infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs." + }, + { + "input": "strawberry gallbladder", + "output": "Cholesterolosis of gallbladder" + }, + { + "input": "otorrhea", + "output": "An auditory system disease that is characterized by the discharge or drainage of fluid from the ear." + }, + { + "input": "mumps", + "output": "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in mumps rubulavirus, 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 fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face." + }, + { + "input": "left bundle branch hemiblock", + "output": "Unspecified fascicular block" + }, + { + "input": "heart conduction disease", + "output": "A cardiovascular system disease that involves the heart's electrical conduction system." + }, + { + "input": "prostate cancer", + "output": "A male reproductive organ cancer that is located_in the prostate." + }, + { + "input": "prostate carcinoma", + "output": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "prostate squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the prostate." + }, + { + "input": "prostate malignant phyllodes tumor", + "output": "A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland." + }, + { + "input": "familial periodic paralysis", + "output": "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells." + }, + { + "input": "prostate lymphoma", + "output": "A prostate cancer that affects lymphocytes and arises from the prostate gland." + }, + { + "input": "monocular esotropia", + "output": "An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance." + }, + { + "input": "raynaud disease", + "output": "A peripheral vascular disease that is characterized by bilateral raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress." + }, + { + "input": "parotitis", + "output": "A parotid disease characterized by the inflammation of one or both parotid glands." + }, + { + "input": "parotid disease", + "output": "A salivary gland disease that is located in the parotid gland." + }, + { + "input": "sialadenitis", + "output": "A salivary gland disease that is characterized as an infection of the salivary glands." + }, + { + "input": "viral meningitis", + "output": "A meningitis that has_material_basis_in a viral infection." + }, + { + "input": "endocarditis", + "output": "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves." + }, + { + "input": "pneumoconiosis", + "output": "An interstitial lung disease that is caused by the inhalation of dust." + }, + { + "input": "mixed mineral dust pneumoconiosis", + "output": "A pneumoconiosis caused by the inhalation of mixed mineral dust particles." + }, + { + "input": "asbestosis", + "output": "A pneumoconiosis caused by inhalation and retention of asbestos fibers." + }, + { + "input": "baritosis", + "output": "A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. the lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops." + }, + { + "input": "berylliosis", + "output": "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds." + }, + { + "input": "byssinosis", + "output": "A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing." + }, + { + "input": "anthracosilicosis", + "output": "A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. it manifests as shortness of breath and induces fibrous nodule formation in the lung." + }, + { + "input": "silicosis", + "output": "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles." + }, + { + "input": "caplan's syndrome", + "output": "A pneumoconiosis that results_in humans that also have rheumatoid arthritis." + }, + { + "input": "anthracosis", + "output": "A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema." + }, + { + "input": "siderosis", + "output": "A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes." + }, + { + "input": "pulmonary talcosis", + "output": "A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc." + }, + { + "input": "slate pneumoconiosis", + "output": "A pneumoconiosis that is caused by exposure to slate dust." + }, + { + "input": "kaolin pneumoconiosis", + "output": "A pneumoconiosis that is caused by inhalation of kaolin dust." + }, + { + "input": "glaucomatous atrophy of optic disc", + "output": "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. glaucomatous atrophy of optic disc can be caused by any form of glaucoma." + }, + { + "input": "chronic meningitis", + "output": "Chronic meningitis" + }, + { + "input": "blepharophimosis", + "output": "An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids." + }, + { + "input": "solitary cyst of breast", + "output": "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma." + }, + { + "input": "aggressive nk-cell leukemia", + "output": "A leukemia that is characterized by the systemic proliferation of nk cells closely associated with epstein-barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen." + }, + { + "input": "breast cyst", + "output": "A breast benign neoplasm that is characterized by a fluid-filled sac." + }, + { + "input": "breast fibroadenosis", + "output": "A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures." + }, + { + "input": "fibrosclerosis of breast", + "output": "A non-proliferative fibrocystic change of the breast that contains scar tissue." + }, + { + "input": "breast fibrocystic disease", + "output": "A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces." + }, + { + "input": "chronic leukemia", + "output": "A leukemia that develops slowly." + }, + { + "input": "eosinophilic meningitis", + "output": "A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microl in the cerebrospinal fluid (csf) or a csf eosinophilia of at least 10 percent. symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch." + }, + { + "input": "epididymis cancer", + "output": "A male reproductive organ cancer that is located in the epididymis." + }, + { + "input": "epididymis adenocarcinoma", + "output": "An epididymis cancer that derives_from epithelial cells of glandular origin." + }, + { + "input": "lymphoid leukemia", + "output": "A leukemia that has_material_basis_in a b-cell or t-cell lineage involving primarily the bone marrow and the peripheral blood." + }, + { + "input": "yaws", + "output": "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. the infection has symptom skin lesions." + }, + { + "input": "strabismic amblyopia", + "output": "An amblyopia that is characterized by strabismus or eye misalignment. the brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye." + }, + { + "input": "amblyopia", + "output": "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. the weaker or lazy eye often wanders inward or outward." + }, + { + "input": "refractive amblyopia", + "output": "An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s)." + }, + { + "input": "deprivation amblyopia", + "output": "An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar." + }, + { + "input": "amyotrophic neuralgia", + "output": "A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the sept9 gene on chromosome 17q25." + }, + { + "input": "prolymphocytic leukemia", + "output": "A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen." + }, + { + "input": "secondary hypertrophic osteoarthropathy", + "output": "Other hypertrophic osteoarthropathy" + }, + { + "input": "pneumonic plague", + "output": "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing." + }, + { + "input": "bacterial infectious disease", + "output": "A disease by infectious agent that results_in infection, has_material_basis_in bacteria." + }, + { + "input": "chronic lymphocytic leukemia", + "output": "A lymphocytic leukemia characterized by over production of b-cells and their accumulation in bone marrow and blood." + }, + { + "input": "acute pericementitis", + "output": "An acute inflammatory process that affects the tissues that surround and support the teeth." + }, + { + "input": "klippel-feil syndrome", + "output": "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra." + }, + { + "input": "stable condition keratoconus", + "output": "Keratoconus, stable" + }, + { + "input": "purulent acute otitis media", + "output": "A suppurative otitis media with sudden onset and a short course." + }, + { + "input": "mooren's ulcer", + "output": "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema." + }, + { + "input": "mycotic corneal ulcer", + "output": "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus." + }, + { + "input": "marginal corneal ulcer", + "output": "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus." + }, + { + "input": "hypopyon ulcer", + "output": "Corneal ulcer with hypopyon" + }, + { + "input": "hypopyon", + "output": "Hypopyon" + }, + { + "input": "ring corneal ulcer", + "output": "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea." + }, + { + "input": "perforated corneal ulcer", + "output": "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment." + }, + { + "input": "tonsillitis", + "output": "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (group a streptococcus) and viral (epstein-barr virus, adenovirus) infections. symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills." + }, + { + "input": "legionnaires' disease", + "output": "A legionellosis that is characterized by severe form of infection producing pneumonia. symptoms include fever, chills, and cough." + }, + { + "input": "legionellosis", + "output": "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. the symptoms include dry cough, fever, headache and diarrhea." + }, + { + "input": "common cold", + "output": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. this is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus." + }, + { + "input": "nasopharyngitis", + "output": "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx." + }, + { + "input": "dentin caries", + "output": "Dental caries" + }, + { + "input": "patellar tendinitis", + "output": "Patellar tendinitis" + }, + { + "input": "diaphragmatic eventration", + "output": "Other congenital malformations of diaphragm" + }, + { + "input": "diaphragm disease", + "output": "A muscular disease that is located_in the diaphragm." + }, + { + "input": "esophageal atresia", + "output": "Atresia of esophagus without fistula" + }, + { + "input": "intestinal atresia", + "output": "Congenital absence, atresia and stenosis of jejunum" + }, + { + "input": "hirschsprung's disease", + "output": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel." + }, + { + "input": "imperforate anus", + "output": "Congenital absence, atresia and stenosis of anus without fistula" + }, + { + "input": "adrenal cortical hypofunction", + "output": "An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. it may be due to a disorder of the adrenal cortex (addison's disease or primary adrenal insufficiency) or to inadequate secretion of acth by the pituitary gland (secondary adrenal insufficiency)." + }, + { + "input": "orbital granuloma", + "output": "Granuloma of orbit" + }, + { + "input": "dressler's syndrome", + "output": "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium." + }, + { + "input": "malignant otitis externa", + "output": "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. it is caused by the bacteria pseudomonas. this is common in people with weakened immune systems and in older people with diabetes." + }, + { + "input": "beach ear", + "output": "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. it is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. it is occasionally associated with middle ear infection or upper respiratory infections such as colds." + }, + { + "input": "chronic fungal otitis externa", + "output": "A otomycosis which is persistent and long-lasting or recurrent." + }, + { + "input": "acute infection of pinna", + "output": "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. the common bacterial pathogens are staphylococcal and streptococcal species." + }, + { + "input": "double pterygium", + "output": "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. double pterygiums progress from pinguecula." + }, + { + "input": "conjunctival pterygium", + "output": "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. conjunctival pterygiums progress from pinguecula." + }, + { + "input": "viral pneumonia", + "output": "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus." + }, + { + "input": "stomach cancer", + "output": "A gastrointestinal system cancer that is located_in the stomach." + }, + { + "input": "malignant gastric granular cell tumor", + "output": "A metastasizing granular cell tumor that arises from the stomach." + }, + { + "input": "gastric fundus cancer", + "output": "A stomach cancer that is located_in the gastric fundus." + }, + { + "input": "gastric lymphoma", + "output": "An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. the vast majority of cases are diffuse large b-cell lymphomas and b-cell lymphomas of the mucosa-associated lymphoid tissue." + }, + { + "input": "microinvasive gastric cancer", + "output": "An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. the regional lymph nodes may or may not be involved. it usually occurs in the lesser curvature. the 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present." + }, + { + "input": "pylorus cancer", + "output": "Malignant neoplasm of pylorus" + }, + { + "input": "pyloric antrum cancer", + "output": "Malignant neoplasm of pyloric antrum" + }, + { + "input": "cardia cancer", + "output": "A cancer located_in the gastric cardia." + }, + { + "input": "acute eustachian salpingitis", + "output": "A otosalpingitis with a sudden onset and a short course." + }, + { + "input": "meningoencephalitis", + "output": "A central nervous system disease that involves encephalitis which occurs along with meningitis." + }, + { + "input": "supine hypotensive syndrome", + "output": "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus." + }, + { + "input": "oculocerebrorenal syndrome", + "output": "A syndrome that has_material_basis_in mutation in the ocrl gene on chromosome xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin d-resistant rickets, amino aciduria, and reduced ammonia production by the kidney." + }, + { + "input": "late yaws", + "output": "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis." + }, + { + "input": "early yaws", + "output": "A yaws that results in initial papule at the site of entry of bacteria. without treatment, this is followed by disseminated skin lesions over the body. bone pain and bone lesions may also occur." + }, + { + "input": "osteomalacia", + "output": "A bone remodeling disease that has_material_basis_in a vitamin d deficiency which results_in softening located_in bone." + }, + { + "input": "calcium metabolism disease", + "output": "Disorders of calcium metabolism" + }, + { + "input": "leukodystrophy", + "output": "A cerebral degeneration characterized by dysfunction of the white matter of the brain." + }, + { + "input": "metachromatic leukodystrophy", + "output": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system." + }, + { + "input": "refsum disease", + "output": "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues." + }, + { + "input": "retinitis pigmentosa", + "output": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." + }, + { + "input": "krabbe disease", + "output": "Krabbe disease" + }, + { + "input": "adrenoleukodystrophy", + "output": "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." + }, + { + "input": "intellectual disability", + "output": "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." + }, + { + "input": "mild pre-eclampsia", + "output": "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation." + }, + { + "input": "pre-eclampsia", + "output": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy." + }, + { + "input": "charcot-marie-tooth disease", + "output": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm." + }, + { + "input": "pleural tuberculosis", + "output": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. this results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac." + }, + { + "input": "hartnup disease", + "output": "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum." + }, + { + "input": "chronic tic disorder", + "output": "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." + }, + { + "input": "glucose intolerance", + "output": "Prediabetes" + }, + { + "input": "lactose intolerance", + "output": "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose." + }, + { + "input": "short bowel syndrome", + "output": "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine." + }, + { + "input": "blind loop syndrome", + "output": "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption." + }, + { + "input": "tropical sprue", + "output": "Tropical sprue" + }, + { + "input": "celiac disease", + "output": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe triticeae. the disease is associated with hla-dq gene. it has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite." + }, + { + "input": "rickets", + "output": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin d, phosphorus or calcium which results_in softening and deformity located_in bone." + }, + { + "input": "pancreatic steatorrhea", + "output": "Pancreatic steatorrhea" + }, + { + "input": "protein-losing enteropathy", + "output": "Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. severe condition can result in hypogammaglobulinemia or lymphopenia. protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple's disease; and neoplasms of the small intestine." + }, + { + "input": "allergic urticaria", + "output": "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction." + }, + { + "input": "acute gonococcal cervicitis", + "output": "An acute cervicitis that is caused by gonorrhea." + }, + { + "input": "acute cervicitis", + "output": "A cervicitis that is characterized by onset within the past 1 - 3 days." + }, + { + "input": "lymph node cancer", + "output": "A lymphatic system cancer that is located_in the lymph node." + }, + { + "input": "fanconi syndrome", + "output": "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and hco3 wasting." + }, + { + "input": "primary optic atrophy", + "output": "Primary optic atrophy" + }, + { + "input": "microphthalmia", + "output": "An eye disease where one or both eyeballs are abnormally small." + }, + { + "input": "interstitial nephritis", + "output": "Tubulo-interstitial nephritis, not specified as acute or chronic" + }, + { + "input": "wolfram syndrome", + "output": "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness." + }, + { + "input": "cystinosis", + "output": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. it follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the ctns gene, located on chromosome 17." + }, + { + "input": "schizotypal personality disorder", + "output": "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs." + }, + { + "input": "alzheimer's disease", + "output": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." + }, + { + "input": "lipoma of colon", + "output": "A benign adipose tissue neoplasm originating in the colon. it is the second most common benign lesion of the colon after benign adenomatous polyps. older patients are more likely to be affected, and most lesions are located at the right side of large bowel. colon lipomas may lead to intestinal obstruction." + }, + { + "input": "colon leiomyoma", + "output": "A well-circumscribed benign smooth muscle neoplasm arising from the colon. it is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." + }, + { + "input": "colonic lymphangioma", + "output": "A lymphangioma arising from the colon." + }, + { + "input": "residual stage of open angle glaucoma", + "output": "Residual stage of open-angle glaucoma" + }, + { + "input": "mediastinum neuroblastoma", + "output": "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells." + }, + { + "input": "mediastinum ganglioneuroblastoma", + "output": "A ganglioneuroblastoma arising from the mediastinum." + }, + { + "input": "open-angle glaucoma", + "output": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage." + }, + { + "input": "juvenile glaucoma", + "output": "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures." + }, + { + "input": "separation anxiety disorder", + "output": "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." + }, + { + "input": "lactocele", + "output": "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands." + }, + { + "input": "hypertrophy of breast", + "output": "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue." + }, + { + "input": "mastitis", + "output": "A breast disease characterized by painful infection of the breast tissue." + }, + { + "input": "fat necrosis of breast", + "output": "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury." + }, + { + "input": "paragonimiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus paragonimus. in the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. various organs like brain, spleen and liver can be infected." + }, + { + "input": "primary open angle glaucoma", + "output": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." + }, + { + "input": "giardiasis", + "output": "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite giardia intestinalis. the symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting." + }, + { + "input": "renal hypertension", + "output": "Persistent high blood pressure due to kidney diseases, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete renin." + }, + { + "input": "kidney failure", + "output": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood." + }, + { + "input": "broad ligament malignant neoplasm", + "output": "A uterine adnexa cancer that is located_in the broad ligament." + }, + { + "input": "otitis media", + "output": "A otitis which involves inflammation of the middle ear." + }, + { + "input": "petrositis", + "output": "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone." + }, + { + "input": "chronic pyelonephritis", + "output": "Chronic tubulo-interstitial nephritis" + }, + { + "input": "portal hypertension", + "output": "Portal hypertension" + }, + { + "input": "hypertension", + "output": "An artery disease characterized by chronic elevated blood pressure in the arteries." + }, + { + "input": "thrombotic thrombocytopenic purpura", + "output": "Other thrombotic microangiopathy" + }, + { + "input": "bubonic plague", + "output": "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. the infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration." + }, + { + "input": "fiedler's myocarditis", + "output": "Isolated myocarditis" + }, + { + "input": "septic myocarditis", + "output": "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation." + }, + { + "input": "primary polycythemia", + "output": "A polycythemia that has_material_basis_in factors intrinsic to red cell precursors." + }, + { + "input": "mesenteric lymphadenitis", + "output": "Nonspecific mesenteric lymphadenitis" + }, + { + "input": "methemoglobinemia", + "output": "Methemoglobinemia" + }, + { + "input": "queensland tick typhus", + "output": "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." + }, + { + "input": "premature menopause", + "output": "An ovarian dysfunction that is the loss of normal ovarian function before age 40." + }, + { + "input": "setariasis", + "output": "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus setaria." + }, + { + "input": "chronic frontal sinusitis", + "output": "A frontal sinusitis which lasts for 12 weeks or more. this causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage." + }, + { + "input": "frontal sinusitis", + "output": "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." + }, + { + "input": "chronic maxillary sinusitis", + "output": "A maxillary sinusitis which lasts for 12 weeks or more." + }, + { + "input": "chronic sphenoidal sinusitis", + "output": "A sphenoid sinusitis which lasts for 12 weeks or more." + }, + { + "input": "sphenoid sinusitis", + "output": "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head." + }, + { + "input": "filariasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily filarioidea." + }, + { + "input": "gastric ulcer", + "output": "Gastric ulcer" + }, + { + "input": "mansonelliasis", + "output": "A filariasis that involves parasitic infection by the nematodes mansonella ozzardi or mansonella perstans, which reside in the skin or body cavities. the nematode is transmitted through the bite of midges and blackflies." + }, + { + "input": "nasal cavity cancer", + "output": "A respiratory system cancer that is located_in the nasal cavity." + }, + { + "input": "nasal cavity olfactory neuroblastoma", + "output": "An olfactory neuroblastoma arising in the nasal cavity." + }, + { + "input": "nasal cavity lymphoma", + "output": "A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area." + }, + { + "input": "duodenum adenocarcinoma", + "output": "A duodenum cancer that derives_from epithelial cells of glandular origin." + }, + { + "input": "sexual sadism", + "output": "Sexual sadism" + }, + { + "input": "dirofilariasis", + "output": "A filariasis that is a zoonotic infection caused by nematodes dirofilaria immitis or dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. the disease manifests as either subcutaneous nodules or pulmonary lesions." + }, + { + "input": "malignant essential hypertension", + "output": "Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure." + }, + { + "input": "malignant hypertension", + "output": "A hypertension that is characterized by rapid onset of extremely high blood pressure." + }, + { + "input": "essential hypertension", + "output": "A hypertension with no known cause. it is the most common type of hypertension." + }, + { + "input": "voyeurism", + "output": "Voyeurism" + }, + { + "input": "eastern equine encephalitis", + "output": "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in eastern equine encephalitis virus, which is transmitted by aedes, transmitted by coquillettidia, and transmitted by culex species of mosquitoes. the infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma." + }, + { + "input": "murray valley encephalitis", + "output": "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in murray valley encephalitis virus, which is transmitted_by culex annulirostris mosquitoes. the infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness." + }, + { + "input": "western equine encephalitis", + "output": "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in western equine encephalomyelitis virus, which is transmitted_by culex and transmitted_by aedes species of mosquitoes. the infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness." + }, + { + "input": "japanese encephalitis", + "output": "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." + }, + { + "input": "st. louis encephalitis", + "output": "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in st. louis encephalitis virus, which is transmitted_by culex mosquitoes. 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." + }, + { + "input": "sexual masochism", + "output": "Sexual masochism" + }, + { + "input": "edwards syndrome", + "output": "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18." + }, + { + "input": "middle ear cholesterol granuloma", + "output": "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. it is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. it is present with a conductive hearing loss and a blue eardrum." + }, + { + "input": "salivary gland disease", + "output": "A mouth disease located_in the salivary gland." + }, + { + "input": "paralytic squint", + "output": "Paralytic strabismus" + }, + { + "input": "abducens nerve palsy", + "output": "A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve." + }, + { + "input": "age related macular degeneration", + "output": "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision." + }, + { + "input": "kuhnt-junius degeneration", + "output": "Exudative age-related macular degeneration" + }, + { + "input": "meningocele", + "output": "A spina bifida that is characterized by herniation of the meninges between the vertebrae." + }, + { + "input": "iliac vein thrombophlebitis", + "output": "Phlebitis and thrombophlebitis of iliac vein" + }, + { + "input": "hand, foot and mouth disease", + "output": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human coxsackievirus a16 or has_material_basis_in human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. the infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet." + }, + { + "input": "epidemic pleurodynia", + "output": "A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in human enterovirus b. the infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache." + }, + { + "input": "herpangina", + "output": "A viral infectious disease that results in infection located in mouth, has_material_basis_in human coxsackievirus a16, human enterovirus 71, group b coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. the infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars." + }, + { + "input": "lepromatous leprosy", + "output": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. this form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas." + }, + { + "input": "hypospadias", + "output": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum." + }, + { + "input": "microcephaly", + "output": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants." + }, + { + "input": "hydrocephalus", + "output": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head." + }, + { + "input": "tooth disease", + "output": "A mouth disease located_in the teeth." + }, + { + "input": "benign essential hypertension", + "output": "A condition of mild to moderate high blood pressure that has no identifiable cause." + }, + { + "input": "amnestic disorder", + "output": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information." + }, + { + "input": "wernicke-korsakoff syndrome", + "output": "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency." + }, + { + "input": "siberian tick typhus", + "output": "A spotted fever that has_material_basis_in rickettsia sibirica, which is transmitted_by ticks (dermacentor nuttalli, dermacentor marginatus and haemaphysalis concinna). the infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash." + }, + { + "input": "sickle cell anemia", + "output": "A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin s, which can distort red blood cells into a sickle, or crescent, shape." + }, + { + "input": "gastrojejunal ulcer", + "output": "Acute gastrojejunal ulcer with hemorrhage" + }, + { + "input": "borderline personality disorder", + "output": "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods." + }, + { + "input": "dependent personality disorder", + "output": "A personality disorder that is characterized by a pervasive psychological dependence on other people." + }, + { + "input": "obsessive-compulsive personality disorder", + "output": "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency." + }, + { + "input": "obsessive-compulsive disorder", + "output": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)." + }, + { + "input": "multiple personality disorder", + "output": "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities." + }, + { + "input": "dissociative disorder", + "output": "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)." + }, + { + "input": "schizoid personality disorder", + "output": "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world." + }, + { + "input": "impulse control disorder", + "output": "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others." + }, + { + "input": "paranoid personality disorder", + "output": "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others." + }, + { + "input": "antisocial personality disorder", + "output": "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood." + }, + { + "input": "attention deficit hyperactivity disorder", + "output": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age." + }, + { + "input": "intracranial aneurysm", + "output": "Abnormal outpouching in the wall of intracranial blood vessels. most common are the saccular (berry) aneurysms located at branch points in circle of willis at the base of the brain. vessel rupture results in subarachnoid hemorrhage or intracranial hemorrhages. giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the oculomotor nerve. (from adams et al., principles of neurology, 6th ed, p841)" + }, + { + "input": "tongue disease", + "output": "A mouth disease located_in the tongue." + }, + { + "input": "nephritis", + "output": "A kidney disease that is characterized by an inflammation of the kidneys." + }, + { + "input": "strongyloidiasis", + "output": "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode strongyloides stercoralis." + }, + { + "input": "cholesteatoma of attic", + "output": "Cholesteatoma of attic" + }, + { + "input": "cholesteatoma of middle ear", + "output": "Cholesteatoma of middle ear" + }, + { + "input": "spastic diplegia", + "output": "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. the legs cross at the knees, making it difficult to walk." + }, + { + "input": "lipoid nephrosis", + "output": "Nephrotic syndrome" + }, + { + "input": "spastic hemiplegia", + "output": "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. on the affected side,the arm and leg may not develop normally." + }, + { + "input": "spastic monoplegia", + "output": "A spastic cerebral palsy that affects only one limb." + }, + { + "input": "hemiplegia", + "output": "A central nervous system disease that is characterized by the complete paralysis of half of the body." + }, + { + "input": "spastic quadriplegic cerebral palsy", + "output": "A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking." + }, + { + "input": "acute salpingo-oophoritis", + "output": "Acute salpingitis and oophoritis" + }, + { + "input": "salpingo-oophoritis", + "output": "Salpingitis and oophoritis" + }, + { + "input": "acute salpingitis", + "output": "Acute salpingitis" + }, + { + "input": "oophoritis", + "output": "An ovarian disease that is characterized by inflammation of the ovary." + }, + { + "input": "membranous glomerulonephritis", + "output": "Chronic nephritic syndrome with diffuse membranous glomerulonephritis" + }, + { + "input": "fetal erythroblastosis", + "output": "Hemolytic disease of newborn" + }, + { + "input": "alport syndrome", + "output": "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss." + }, + { + "input": "discitis", + "output": "Discitis, unspecified" + }, + { + "input": "conjunctival vascular disease", + "output": "Vascular abnormalities of conjunctiva" + }, + { + "input": "alpha thalassemia", + "output": "A thalassemia involving the genes hba1and hba2 hemoglobin genes." + }, + { + "input": "basal ganglia cerebrovascular disease", + "output": "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." + }, + { + "input": "acute hemorrhagic leukoencephalitis", + "output": "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." + }, + { + "input": "postinfectious encephalitis", + "output": "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occuring two to three weeks after the initial infection." + }, + { + "input": "immature cataract", + "output": "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining." + }, + { + "input": "lens disease", + "output": "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye." + }, + { + "input": "ovarian disease", + "output": "A female reproductive system disease that is located_in the ovary." + }, + { + "input": "pinguecula", + "output": "Pinguecula" + }, + { + "input": "corneal edema", + "output": "Unspecified corneal edema" + }, + { + "input": "bullous keratopathy", + "output": "Bullous keratopathy" + }, + { + "input": "secondary corneal edema", + "output": "Secondary corneal edema" + }, + { + "input": "idiopathic corneal edema", + "output": "Idiopathic corneal edema" + }, + { + "input": "dissociative amnesia", + "output": "A dissociative disorder where he continuity of the patient's memory is disrupted. patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress." + }, + { + "input": "depersonalization disorder", + "output": "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization." + }, + { + "input": "felty's syndrome", + "output": "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia." + }, + { + "input": "gastroschisis", + "output": "Gastroschisis" + }, + { + "input": "meconium aspiration syndrome", + "output": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery." + }, + { + "input": "urinary bladder cancer", + "output": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." + }, + { + "input": "pasteurellosis", + "output": "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. the infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia." + }, + { + "input": "esophagus lymphoma", + "output": "An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. dysphagia may be the presenting symptom. the vast majority of cases are diffuse large b-cell lymphomas and b-cell lymphomas of the mucosa-associated lymphoid tissue." + }, + { + "input": "placenta praevia", + "output": "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix." + }, + { + "input": "esophageal carcinoma", + "output": "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "brucella suis brucellosis", + "output": "A brucellosis that involves an infection caused by brucella suis [ncbitaxon:29461] in swine and humans. the disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue." + }, + { + "input": "brucellosis", + "output": "A primary bacterial infectious disease that is caused by the bacteria of the genus brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. the disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue." + }, + { + "input": "leech infestation", + "output": "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass hirudinea. the leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. while feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream." + }, + { + "input": "esophagus melanoma", + "output": "A melanoma affecting the esophageal wall. melanoma in the esophagus is more commonly metastatic than primary. primary melanomas of the esophagus are polypoid and clinically aggressive. (who, 2000)" + }, + { + "input": "myiasis", + "output": "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue." + }, + { + "input": "chorioretinal scar", + "output": "Chorioretinal scars" + }, + { + "input": "asphyxia neonatorum", + "output": "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain." + }, + { + "input": "q fever", + "output": "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. the infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia." + }, + { + "input": "trench fever", + "output": "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in bartonella quintana, which is transmitted by body lice (pediculus humanus corporis). the infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back." + }, + { + "input": "bartonellosis", + "output": "A primary bacterial infectious disease that is caused by the bacteria of the genus bartonella." + }, + { + "input": "rickettsialpox", + "output": "A spotted fever that has_material_basis_in rickettsia akari, which is transmitted_by house mouse mite (liponyssoides sanguineus) found on mice and other rodents. the infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash." + }, + { + "input": "spotted fever", + "output": "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in rickettsia, which is transmitted by ticks and mites. the infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. a distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite." + }, + { + "input": "fundus albipunctatus", + "output": "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement." + }, + { + "input": "hydronephrosis", + "output": "Unspecified hydronephrosis" + }, + { + "input": "gilles de la tourette syndrome", + "output": "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year." + }, + { + "input": "psychologic dyspareunia", + "output": "Dyspareunia not due to a substance or known physiological condition" + }, + { + "input": "pulpitis", + "output": "A dental pulp disease characterized by inflammation." + }, + { + "input": "henoch-schoenlein purpura", + "output": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection." + }, + { + "input": "qualitative platelet defect", + "output": "Qualitative platelet defects" + }, + { + "input": "acquired thrombocytopenia", + "output": "Secondary thrombocytopenia" + }, + { + "input": "secondary hypertension", + "output": "Secondary hypertension" + }, + { + "input": "prostatic cyst", + "output": "Cyst of prostate" + }, + { + "input": "prolapse of lacrimal gland", + "output": "Lacrimal gland dislocation" + }, + { + "input": "esophagus sarcoma", + "output": "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus." + }, + { + "input": "hypersecretion glaucoma", + "output": "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow." + }, + { + "input": "aqueous misdirection", + "output": "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity." + }, + { + "input": "sarcoma", + "output": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." + }, + { + "input": "cholecystolithiasis", + "output": "Presence or formation of gallstones in the gallbladder." + }, + { + "input": "miliaria rubra", + "output": "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction." + }, + { + "input": "hypohidrosis", + "output": "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands." + }, + { + "input": "anhidrosis", + "output": "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin." + }, + { + "input": "pertussis", + "output": "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in bordetella pertussis, or has_material_basis_in bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. the infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop)." + }, + { + "input": "neonatal respiratory failure", + "output": "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates." + }, + { + "input": "respiratory failure", + "output": "A lung disease characterized by inadequate gas exchange by the respiratory system." + }, + { + "input": "band keratopathy", + "output": "Band keratopathy" + }, + { + "input": "common wart", + "output": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). this infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body." + }, + { + "input": "human papillomavirus infectious disease", + "output": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. these viruses cause warts and sometimes tumors. they are transmitted_by sexual contact." + }, + { + "input": "anogenital venereal wart", + "output": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. the infection has_symptom anogenital warts." + }, + { + "input": "enophthalmos", + "output": "Enophthalmos" + }, + { + "input": "non-suppurative otitis media", + "output": "A otitis media which involves transudation of fluid in the middle ear without pus formation." + }, + { + "input": "serous glue ear", + "output": "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment." + }, + { + "input": "acute conjunctivitis", + "output": "Other mucopurulent conjunctivitis" + }, + { + "input": "allescheriosis", + "output": "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in pseudallescheria boydii, which results_in_formation_of abscesses." + }, + { + "input": "pulp degeneration", + "output": "Pulp degeneration" + }, + { + "input": "pseudomembranous conjunctivitis", + "output": "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. infectious causes of pseudomembranes include corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, chlamydia and gonococci. other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid." + }, + { + "input": "syndactyly", + "output": "A synostosis that results_in the fusion of two or more digits." + }, + { + "input": "acute laryngopharyngitis", + "output": "An upper respiratory tract disease which involves inflammation of both larynx and pharynx." + }, + { + "input": "serous conjunctivitis except viral", + "output": "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge." + }, + { + "input": "digeorge syndrome", + "output": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the dgs gene needed for development of the thymus and related glands with subsequent lack of t-cell production." + }, + { + "input": "hypoparathyroidism", + "output": "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (pth), leading to abnormally low ionized calcium levels in the blood." + }, + { + "input": "esophageal varix", + "output": "Esophageal varices with bleeding" + }, + { + "input": "t cell deficiency", + "output": "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning t cells." + }, + { + "input": "parathyroid gland disease", + "output": "An endocrine system disease that is located_in the parathyroid gland." + }, + { + "input": "primary hyperparathyroidism", + "output": "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood." + }, + { + "input": "angelucci's syndrome", + "output": "Acute atopic conjunctivitis" + }, + { + "input": "allergic conjunctivitis", + "output": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant." + }, + { + "input": "opioid abuse", + "output": "A substance abuse that involves the recurring use of opioid drugs despite negative consequences." + }, + { + "input": "buphthalmos", + "output": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss." + }, + { + "input": "hydrophthalmos", + "output": "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss." + }, + { + "input": "acute contagious conjunctivitis", + "output": "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in hemophilius aegypticus." + }, + { + "input": "chronic tympanitis", + "output": "Chronic myringitis" + }, + { + "input": "conjunctival folliculosis", + "output": "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae." + }, + { + "input": "acute hemorrhagic conjunctivitis", + "output": "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in human coxsackievirus a24 or has_material_basis_in human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. the infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis." + }, + { + "input": "spondyloarthropathy", + "output": "Heterogeneous group of arthritic diseases sharing clinical and radiologic features. they are associated with the hla-b27 antigen and some with a triggering infection. most involve the axial joints in the spine, particularly the sacroiliac joint, but can also involve asymmetric peripheral joints. subsets include ankylosing spondylitis; reactive arthritis; psoriatic arthritis; and others." + }, + { + "input": "acute orbital inflammation", + "output": "Acute inflammation of orbit" + }, + { + "input": "orbital periostitis", + "output": "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit." + }, + { + "input": "orbital osteomyelitis", + "output": "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum." + }, + { + "input": "orbital tenonitis", + "output": "An acute orbital inflammation that is characterized by inflammation of the capsule of tenon." + }, + { + "input": "orbital cellulitis", + "output": "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision." + }, + { + "input": "adhesive otitis media", + "output": "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear." + }, + { + "input": "appendix cancer", + "output": "A intestinal cancer that is located_in the appendix." + }, + { + "input": "appendiceal neoplasm", + "output": "Tumors or cancer of the appendix." + }, + { + "input": "appendix lymphoma", + "output": "A lymphoma arising from the appendix. the majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare." + }, + { + "input": "plethora of newborn", + "output": "Polycythemia neonatorum" + }, + { + "input": "anemia of prematurity", + "output": "Anemia of prematurity" + }, + { + "input": "neonatal anemia", + "output": "The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation." + }, + { + "input": "transient neonatal neutropenia", + "output": "Transient neonatal neutropenia" + }, + { + "input": "dic in newborn", + "output": "Disseminated intravascular coagulation of newborn" + }, + { + "input": "disseminated intravascular coagulation", + "output": "Disseminated intravascular coagulation [defibrination syndrome]" + }, + { + "input": "vitamin k deficiency bleeding", + "output": "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin k deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin k secondary to liver prematurity, lack of vitamin k in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications." + }, + { + "input": "brill-zinsser disease", + "output": "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses." + }, + { + "input": "typhus", + "output": "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites." + }, + { + "input": "social phobia", + "output": "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people." + }, + { + "input": "cat-scratch disease", + "output": "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in bartonella henselae or has_material_basis_in bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. the infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain." + }, + { + "input": "rabies", + "output": "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. the infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis." + }, + { + "input": "ornithosis", + "output": "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. the infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia." + }, + { + "input": "chlamydia", + "output": "A commensal bacterial infectious disease that is caused by chlamydia trachomatis." + }, + { + "input": "trachoma", + "output": "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in chlamydia trachomatis (a, b, ba and c serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. the infection causes eyelid to turn inward which makes eyelashes to scratch the cornea." + }, + { + "input": "hantavirus hemorrhagic fever with renal syndrome", + "output": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in orthohantavirus dobravaense, has_material_basis_in orthohantavirus hantanense, has_material_basis_in orthohantavirus puumalaense, has_material_basis_in orthohantavirus seoulense, 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 proteinuria, and has symptom renal failure." + }, + { + "input": "keratomalacia", + "output": "Keratomalacia" + }, + { + "input": "chronic apical periodontitis", + "output": "Chronic apical periodontitis" + }, + { + "input": "plummer's disease", + "output": "Thyrotoxicosis with toxic multinodular goiter" + }, + { + "input": "solar retinopathy", + "output": "Solar retinopathy" + }, + { + "input": "tick paralysis", + "output": "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as dermacentor andersoni, dermacentor variabilis, amblyomma americanum, amblyomma maculatum, ixodes scapularis, ixodes pacificus, ixodes holocyclus, rhipicephalus sanguineus and otobius megnini. the symptoms include local inflammation, edema and hemorrhage." + }, + { + "input": "ventilation pneumonitis", + "output": "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. fungi like aureobasidium sp and candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease." + }, + { + "input": "pituitary apoplexy", + "output": "The sudden loss of blood supply to the pituitary gland, leading to tissue necrosis and loss of function (panhypopituitarism). the most common cause is hemorrhage or infarction of a pituitary adenoma. it can also result from acute hemorrhage into sella turcica due to head trauma; intracranial hypertension; or other acute effects of central nervous system hemorrhage. clinical signs include severe headache; hypotension; bilateral visual disturbances; unconsciousness; and coma." + }, + { + "input": "arteriovenous malformation", + "output": "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system." + }, + { + "input": "retinal microaneurysm", + "output": "A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. the lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. this expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. shear force plays a key role in promoting the differentiation and proliferation of endothelial cells. [orcid:0000-0002-6601-2165, pmid:23371018, pmid:24425852]" + }, + { + "input": "vertebral artery occlusion", + "output": "Occlusion and stenosis of vertebral artery" + }, + { + "input": "pituitary infarct", + "output": "Ischemic necrosis of the pituitary gland." + }, + { + "input": "cercarial dermatitis", + "output": "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, austrobilharzia variglandis. the disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection." + }, + { + "input": "mobitz type ii atrioventricular block", + "output": "A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant pr interval prior to the block of an atrial impulse. (cdisc)" + }, + { + "input": "african histoplasmosis", + "output": "A histoplasmosis that results in systemic fungal infection, has_material_basis_in histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions." + }, + { + "input": "kyasanur forest disease", + "output": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in kyasanur forest disease virus, which is transmitted by haemaphysalis spinigera tick bite. the infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems." + }, + { + "input": "schizophreniform disorder", + "output": "A psychotic disorder that involves schizophrenia symptoms over time period of one month." + }, + { + "input": "ainhum", + "output": "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." + }, + { + "input": "erysipelas", + "output": "Erysipelas" + }, + { + "input": "sarcoidosis", + "output": "A hypersensitivity reaction type iv disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs." + }, + { + "input": "rhinoscleroma", + "output": "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by klebsiella rhinoscleromatis." + }, + { + "input": "lemierre's syndrome", + "output": "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by fusobacterium necrophorum. the disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling." + }, + { + "input": "tetanus", + "output": "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli." + }, + { + "input": "pneumocystosis", + "output": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever." + }, + { + "input": "gingival recession", + "output": "Gingival recession" + }, + { + "input": "arcus senilis", + "output": "Arcus senilis" + }, + { + "input": "scleral disease", + "output": "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball." + }, + { + "input": "bladder diverticulum", + "output": "Diverticulum of bladder" + }, + { + "input": "stone in bladder diverticulum", + "output": "Calculus in bladder" + }, + { + "input": "bladder calculus", + "output": "Calculus in bladder" + }, + { + "input": "phlebotomus fever", + "output": "A viral infectious disease that results in infection, has_material_basis_in sandfly fever naples virus, or has_material_basis_in sandfly fever sicilian virus, which are transmitted by phlebotomus papatasi sandfly. the infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia." + }, + { + "input": "lens subluxation", + "output": "Subluxation of lens" + }, + { + "input": "congenital aphakia", + "output": "Congenital aphakia" + }, + { + "input": "functional diarrhea", + "output": "Functional diarrhea" + }, + { + "input": "megacolon", + "output": "A colonic disease that is characterized by an abnormal dilation of the colon." + }, + { + "input": "anal spasm", + "output": "Anal spasm" + }, + { + "input": "gnathomiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of gnathostoma spinigerum or gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in cyclops. migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis." + }, + { + "input": "spinal meningioma", + "output": "A meningioma that affects the spinal cord." + }, + { + "input": "corneal neovascularization", + "output": "Corneal neovascularization" + }, + { + "input": "cryptorchidism", + "output": "Undescended testicle, unspecified" + }, + { + "input": "expressive language disorder", + "output": "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." + }, + { + "input": "epidural abscess", + "output": "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges)." + }, + { + "input": "subdural empyema", + "output": "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space." + }, + { + "input": "adult respiratory distress syndrome", + "output": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia." + }, + { + "input": "pulmonary edema", + "output": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure." + }, + { + "input": "heart disease", + "output": "A cardiovascular system disease that involves the heart." + }, + { + "input": "spinal canal and spinal cord meningioma", + "output": "A meningioma that arises from the spinal meninges." + }, + { + "input": "pyelonephritis", + "output": "Renal tubulo-interstitial disorders in diseases classified elsewhere" + }, + { + "input": "xanthogranulomatous pyelonephritis", + "output": "A chronic inflammatory condition of the kidney resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with nephrolithiasis and kidney stones." + }, + { + "input": "diphtheria", + "output": "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. a milder form of diphtheria can be restricted to the skin. it is caused by corynebacterium diphtheriae, an aerobic gram-positive bacterium. diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." + }, + { + "input": "choroiditis", + "output": "Unspecified chorioretinal inflammation" + }, + { + "input": "alternating exotropia", + "output": "Alternating exotropia" + }, + { + "input": "fallopian tube endometriosis", + "output": "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube." + }, + { + "input": "endosalpingiosis", + "output": "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube." + }, + { + "input": "endometriosis of intestine", + "output": "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine." + }, + { + "input": "endometriosis of pelvic peritoneum", + "output": "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum." + }, + { + "input": "exotropia", + "output": "Exotropia" + }, + { + "input": "endometriosis in scar of skin", + "output": "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin." + }, + { + "input": "endometriosis of rectovaginal septum and vagina", + "output": "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina." + }, + { + "input": "endometriosis of ovary", + "output": "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary." + }, + { + "input": "sciatic neuropathy", + "output": "Disease or damage involving the sciatic nerve, which divides into the peroneal nerve and tibial nerve (see also peroneal neuropathies and tibial neuropathy). clinical manifestations may include sciatica or pain localized to the hip, paresis or paralysis of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. the sciatic nerve may be affected by trauma; ischemia; collagen diseases; and other conditions. (from adams et al., principles of neurology, 6th ed, p1363)" + }, + { + "input": "allergic cutaneous vasculitis", + "output": "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin." + }, + { + "input": "brain compression", + "output": "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain." + }, + { + "input": "pseudotumor cerebri", + "output": "Benign intracranial hypertension" + }, + { + "input": "autonomic nervous system disease", + "output": "A peripheral nervous system disease that is located_in the autonomic nervous system." + }, + { + "input": "subglottis cancer", + "output": "Malignant neoplasm of subglottis" + }, + { + "input": "osteoporosis", + "output": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength." + }, + { + "input": "polydactyly", + "output": "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot." + }, + { + "input": "constrictive pericarditis", + "output": "Inflammation of the pericardium that is characterized by the fibrous scarring and adhesion of both serous layers, the visceral pericardium and the parietal pericardium leading to the loss of pericardial cavity. the thickened pericardium severely restricts cardiac filling. clinical signs include fatigue, muscle wasting, and weight loss." + }, + { + "input": "hemopericardium", + "output": "A pericardial effusion that results from blood in the pericardial sac." + }, + { + "input": "horner's syndrome", + "output": "An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics." + }, + { + "input": "idiopathic peripheral autonomic neuropathy", + "output": "Idiopathic peripheral autonomic neuropathy" + }, + { + "input": "acquired night blindness", + "output": "A nutritional deficiency disease that is characterized by vitamin a deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin a such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated." + }, + { + "input": "cardiac tamponade", + "output": "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch." + }, + { + "input": "mitral valve insufficiency", + "output": "Congenital mitral insufficiency" + }, + { + "input": "diabetic autonomic neuropathy", + "output": "Autonomic neuropathy that is caused by diabetes mellitus." + }, + { + "input": "autonomic neuropathy", + "output": "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. it results in disruption of the involuntary body functions. inherited causes include fabry disease and porphyrias. acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." + }, + { + "input": "suppurative otitis media", + "output": "A otitis media which involves inflammation of the middle ear with infected effusion containing pus." + }, + { + "input": "rumination disorder", + "output": "An eating disorder that is characterized by effortless regurgitation of most meals following consumption." + }, + { + "input": "budd-chiari syndrome", + "output": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion." + }, + { + "input": "fissured tongue", + "output": "Plicated tongue" + }, + { + "input": "hypertensive heart disease", + "output": "A heart disease that is caused by high blood pressure." + }, + { + "input": "abnormal pupillary function", + "output": "Other anomalies of pupillary function" + }, + { + "input": "laryngostenosis", + "output": "Stenosis of larynx" + }, + { + "input": "recurrent corneal erosion", + "output": "Recurrent erosion of cornea" + }, + { + "input": "corneal abscess", + "output": "Corneal abscess" + }, + { + "input": "corneal deposit", + "output": "Unspecified corneal deposit" + }, + { + "input": "adie syndrome", + "output": "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. it is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the achilles tendon." + }, + { + "input": "oculomotor nerve paralysis", + "output": "Third [oculomotor] nerve palsy" + }, + { + "input": "bowman's membrane folds or rupture", + "output": "Folds and rupture in bowman's membrane" + }, + { + "input": "chandler syndrome", + "output": "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma." + }, + { + "input": "fuchs' endothelial dystrophy", + "output": "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of descemet's membrane, leading to corneal edema and loss of vision." + }, + { + "input": "acute serous otitis media", + "output": "A acute transudative otitis media with thin, watery and sterile effusion." + }, + { + "input": "acute allergic serous otitis media", + "output": "A acute serous otitis media caused by an allergen." + }, + { + "input": "chondrocalcinosis", + "output": "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint." + }, + { + "input": "hypertensive retinopathy", + "output": "Hypertensive retinopathy" + }, + { + "input": "retinal vasculitis", + "output": "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images." + }, + { + "input": "neurocirculatory asthenia", + "output": "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities." + }, + { + "input": "listeria meningitis", + "output": "A bacterial meningitis that has_material_basis_in listeria monocytogenes infection." + }, + { + "input": "listeriosis", + "output": "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." + }, + { + "input": "streptococcal meningitis", + "output": "A bacterial meningitis that has_material_basis_in streptococcal bacteria." + }, + { + "input": "cauda equina syndrome", + "output": "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." + }, + { + "input": "phlyctenulosis", + "output": "Phlyctenular keratoconjunctivitis" + }, + { + "input": "riley-day syndrome", + "output": "A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the ikbkap gene (elp1) on chromosome 9q31." + }, + { + "input": "bladder lateral wall cancer", + "output": "Malignant neoplasm of lateral wall of bladder" + }, + { + "input": "ring staphyloma", + "output": "Ring staphyloma" + }, + { + "input": "scleral staphyloma", + "output": "A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [hpo:probinson, pmid:22454726]" + }, + { + "input": "frey syndrome", + "output": "An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways." + }, + { + "input": "pericardium cancer", + "output": "Malignant neoplasm of heart" + }, + { + "input": "infant gynecomastia", + "output": "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age." + }, + { + "input": "fungal meningitis", + "output": "A meningitis that has_material_basis_in a fungal infection." + }, + { + "input": "polycystic ovary syndrome", + "output": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight." + }, + { + "input": "hyperandrogenism", + "output": "A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. the clinical significance in males is negligible. in women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction." + }, + { + "input": "penile cancer", + "output": "Malignant neoplasm of penis" + }, + { + "input": "dental pulp necrosis", + "output": "A dental pulp disease characterized by death of the pulp tissue." + }, + { + "input": "penile benign neoplasm", + "output": "Cancers or tumors of the penis or of its component tissues." + }, + { + "input": "pelvic muscle wasting", + "output": "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two." + }, + { + "input": "thyroid hormone resistance syndrome", + "output": "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. this syndrome is caused by mutations of gene thrb encoding the thyroid hormone receptors beta in target cells. hypothyroidism in these patients is partly overcome by the increased thyroid hormone levels." + }, + { + "input": "myxedema", + "output": "Hypothyroidism, unspecified" + }, + { + "input": "accommodative spasm", + "output": "Spasm of accommodation" + }, + { + "input": "presbyopia", + "output": "Presbyopia" + }, + { + "input": "bronchopulmonary dysplasia", + "output": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. most newborns who develop bpd are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems." + }, + { + "input": "conjunctival deposit", + "output": "Conjunctival deposits" + }, + { + "input": "cicatricial pemphigoid", + "output": "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin." + }, + { + "input": "palindromic rheumatism", + "output": "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms." + }, + { + "input": "blue color blindness", + "output": "A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the opn1sw gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function." + }, + { + "input": "nephrosclerosis", + "output": "Hypertensive chronic kidney disease" + }, + { + "input": "patau syndrome", + "output": "Trisomy 13, unspecified" + }, + { + "input": "hypopigmentation of eyelid", + "output": "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances." + }, + { + "input": "hypertrichosis of eyelid", + "output": "Hypertrichosis of eyelid" + }, + { + "input": "hypotrichosis of eyelid", + "output": "Madarosis of eyelid and periocular area" + }, + { + "input": "onchocerciasis", + "output": "A filariasis that involves parasitic infection caused by the nematode onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus simulium. the worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. the symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy." + }, + { + "input": "familial hyperlipidemia", + "output": "Hyperlipidemia, unspecified" + }, + { + "input": "melanoacanthoma", + "output": "A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes." + }, + { + "input": "inflamed seborrheic keratosis", + "output": "Inflamed seborrheic keratosis" + }, + { + "input": "acute apical periodontitis", + "output": "Acute apical periodontitis of pulpal origin" + }, + { + "input": "portal vein thrombosis", + "output": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein." + }, + { + "input": "heart cancer", + "output": "A cardiovascular cancer located_in the heart." + }, + { + "input": "selective iga deficiency disease", + "output": "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin a (iga), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract." + }, + { + "input": "dysgammaglobulinemia", + "output": "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins." + }, + { + "input": "hyperlipoproteinemia type v", + "output": "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. type v hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type i ." + }, + { + "input": "lipoatrophic diabetes mellitus", + "output": "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy." + }, + { + "input": "diabetic angiopathy", + "output": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes." + }, + { + "input": "gestational diabetes", + "output": "A diabetes mellitus that manifests during pregnancy." + }, + { + "input": "prediabetes syndrome", + "output": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes." + }, + { + "input": "neonatal diabetes", + "output": "A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life." + }, + { + "input": "antidepressant type abuse", + "output": "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences." + }, + { + "input": "oculopharyngeal muscular dystrophy", + "output": "Other specified muscular dystrophies" + }, + { + "input": "hyperlipoproteinemia type iv", + "output": "Pure hyperglyceridemia" + }, + { + "input": "distal myopathy", + "output": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." + }, + { + "input": "glycogen storage disease vii", + "output": "A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the pfkm gene, which encodes muscle phosphofructokinase, on chromosome 12q13." + }, + { + "input": "myotonic dystrophy type 1", + "output": "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the dmpk gene containing an expansion of a ctg trinucleotide repeat in the non-coding region." + }, + { + "input": "duchenne muscular dystrophy", + "output": "A muscular dystrophy that has_material_basis_in x-linked 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." + }, + { + "input": "limb-girdle muscular dystrophy", + "output": "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles." + }, + { + "input": "cornelia de lange syndrome", + "output": "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features." + }, + { + "input": "emery-dreifuss muscular dystrophy", + "output": "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle." + }, + { + "input": "facioscapulohumeral muscular dystrophy", + "output": "Facioscapulohumeral muscular dystrophy" + }, + { + "input": "lyme disease", + "output": "A primary bacterial infectious disease that results_in infection, has_material_basis_in borrelia burgdorferi, which is transmitted_by blacklegged tick (ixodes scapularis) or transmitted_by western blacklegged tick (ixodes pacificus). the infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. if left untreated, infection can spread to joints, the heart, and the nervous system." + }, + { + "input": "parametrium malignant neoplasm", + "output": "A uterine adnexa cancer that is located_in the parametrium." + }, + { + "input": "uterine adnexa cancer", + "output": "A uterine cancer that is located_in the adnexa." + }, + { + "input": "round ligament malignant neoplasm", + "output": "A uterine adnexa cancer that is located_in the round ligament." + }, + { + "input": "bordetella parapertussis whooping cough", + "output": "A pertussis that is a milder disease caused by the bacterium bordetella parapertussis. the disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose." + }, + { + "input": "siderosis of eye", + "output": "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body." + }, + { + "input": "choledocholithiasis", + "output": "A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct." + }, + { + "input": "iron deficiency anemia", + "output": "A nutritional deficiency disease that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells." + }, + { + "input": "hypochromic anemia", + "output": "Iron deficiency anemia" + }, + { + "input": "bronchial disease", + "output": "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage." + }, + { + "input": "kohler's disease", + "output": "An osteochondrosis that results_in death and collapse located_in navicular bone of foot." + }, + { + "input": "spontaneous ocular nystagmus", + "output": "Visual deprivation nystagmus" + }, + { + "input": "leukocoria", + "output": "Leucocoria" + }, + { + "input": "absolute glaucoma", + "output": "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance." + }, + { + "input": "regular astigmatism", + "output": "Regular astigmatism" + }, + { + "input": "astigmatism", + "output": "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision." + }, + { + "input": "chronic congestive splenomegaly", + "output": "Chronic congestive splenomegaly" + }, + { + "input": "chronic laryngitis", + "output": "A laryngitis in which symptoms last longer than three weeks. gastroesophageal reflux, and lingering bronchitis can cause the disease." + }, + { + "input": "pericardial effusion", + "output": "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity." + }, + { + "input": "protein-energy malnutrition", + "output": "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation." + }, + { + "input": "bladder neck cancer", + "output": "Malignant neoplasm of bladder neck" + }, + { + "input": "urinary bladder posterior wall cancer", + "output": "Malignant neoplasm of posterior wall of bladder" + }, + { + "input": "bladder sarcoma", + "output": "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder." + }, + { + "input": "bladder trigone cancer", + "output": "Malignant neoplasm of trigone of bladder" + }, + { + "input": "urinary bladder anterior wall cancer", + "output": "Malignant neoplasm of anterior wall of bladder" + }, + { + "input": "vitreous syneresis", + "output": "Vitreous degeneration" + }, + { + "input": "urachus cancer", + "output": "Malignant neoplasm of urachus" + }, + { + "input": "ureteric orifice cancer", + "output": "Malignant neoplasm of ureteric orifice" + }, + { + "input": "ureter cancer", + "output": "A urinary system cancer that is located_in the ureter." + }, + { + "input": "bladder dome cancer", + "output": "Malignant neoplasm of dome of bladder" + }, + { + "input": "bladder lymphoma", + "output": "A lymphoma involving the bladder." + }, + { + "input": "hepatorenal syndrome", + "output": "An acute kidney failure that is characterized by severe renal vasoconstriction." + }, + { + "input": "multicentric reticulohistiocytosis", + "output": "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis." + }, + { + "input": "degenerative myopia", + "output": "Degenerative myopia" + }, + { + "input": "myopia", + "output": "A refractive error characterized by the inability to see farther objects clearly." + }, + { + "input": "cortical blindness", + "output": "Cortical blindness" + }, + { + "input": "clubfoot", + "output": "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities." + }, + { + "input": "penis sarcoma", + "output": "A sarcoma and malignant neoplasm of penis that is located_in the penis." + }, + { + "input": "glans penis cancer", + "output": "Malignant neoplasm of glans penis" + }, + { + "input": "nephrotic syndrome", + "output": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability." + }, + { + "input": "coronary artery vasospasm", + "output": "Spasm of the large- or medium-sized coronary arteries." + }, + { + "input": "coronary thrombosis", + "output": "Subsequent st elevation (stemi) and non-st elevation (nstemi) myocardial infarction" + }, + { + "input": "indeterminate leprosy", + "output": "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules." + }, + { + "input": "monocular exotropia", + "output": "Monocular exotropia" + }, + { + "input": "tibial neuropathy", + "output": "Disease of the tibial nerve (also referred to as the posterior tibial nerve). the most commonly associated condition is the tarsal tunnel syndrome. however, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (from joynt, clinical neurology, 1995, ch51, p32)" + }, + { + "input": "pick's disease", + "output": "Pick's disease" + }, + { + "input": "macular keratitis", + "output": "Macular keratitis" + }, + { + "input": "abnormal threshold of rods", + "output": "Abnormal dark adaptation curve" + }, + { + "input": "denture stomatitis", + "output": "Other forms of stomatitis" + }, + { + "input": "mononeuropathy", + "output": "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve." + }, + { + "input": "ureteral benign neoplasm", + "output": "Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom." + }, + { + "input": "ureter leiomyoma", + "output": "An ureteral benign neoplasm that derives_from smooth muscle cells." + }, + { + "input": "schwannoma of ureter", + "output": "A benign nerve sheath tumor composed of schwann cells, occurring in the ureter." + }, + { + "input": "female breast nipple and areola cancer", + "output": "A female breast cancer that is located_in the nipple and areola." + }, + { + "input": "vaginal cancer", + "output": "A female reproductive system cancer that is located_in the vagina." + }, + { + "input": "labium majus cancer", + "output": "A vulva cancer that is located_in the labium majus." + }, + { + "input": "ecthyma", + "output": "An ulcerative pyoderma usually caused by group a beta-hemolytic streptococcal infection at the site of minor trauma. (dorland, 27th ed)" + }, + { + "input": "gastroparesis", + "output": "Gastroparesis" + }, + { + "input": "tinea cruris", + "output": "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze." + }, + { + "input": "peripheral nervous system neoplasm", + "output": "A nervous system cancer that is located in the peripheral nervous system." + }, + { + "input": "tracheal cancer", + "output": "A respiratory system cancer that is located_in the trachea." + }, + { + "input": "head and neck cancer", + "output": "An organ system cancer that arises in the head or neck region. this region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." + }, + { + "input": "creutzfeldt-jakob disease", + "output": "Creutzfeldt-jakob disease" + }, + { + "input": "ischemic neuropathy", + "output": "Neuropathy that is caused by inadequate blood supply." + }, + { + "input": "esophagitis", + "output": "Esophagitis" + }, + { + "input": "postmenopausal atrophic vaginitis", + "output": "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency." + }, + { + "input": "synostosis", + "output": "A dysostosis that results_in abnormal fusing of adjacent bones." + }, + { + "input": "coloboma of optic nerve", + "output": "Congenital malformation of optic disc" + }, + { + "input": "botulism", + "output": "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (bonta, b, e and f) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in clostridium botulinum a, has_material_basis_in clostridium botulinum b, has_material_basis_in clostridium botulinum e and has_material_basis_in clostridium botulinum f." + }, + { + "input": "morbid obesity", + "output": "The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. in the body mass index, morbid obesity is defined as having a bmi greater than 40.0 kg/m2." + }, + { + "input": "prader-willi syndrome", + "output": "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity." + }, + { + "input": "hypertrophic cardiomyopathy", + "output": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause." + }, + { + "input": "conjunctival concretion", + "output": "Conjunctival concretions" + }, + { + "input": "ulceroglandular tularemia", + "output": "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion." + }, + { + "input": "osteopoikilosis", + "output": "An osteosclerosis that results_in numerous bone islands located_in skeleton." + }, + { + "input": "atrophy of testis", + "output": "Atrophy of testis" + }, + { + "input": "spermatic cord torsion", + "output": "Intravaginal torsion of spermatic cord" + }, + { + "input": "spermatocele", + "output": "Spermatocele of epididymis" + }, + { + "input": "female reproductive organ cancer", + "output": "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." + }, + { + "input": "tracheal lymphoma", + "output": "A rare lymphoma that arises from the trachea. signs and symptoms include dyspnea, cough, wheezing, and stridor." + }, + { + "input": "trachea sarcoma", + "output": "A sarcoma and malignant tumor of trachea that is located_in the trachea." + }, + { + "input": "trachea squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the trachea." + }, + { + "input": "trigeminal nerve neoplasm", + "output": "Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. clinical features may include facial pain or sensory loss or weakness of jaw closure." + }, + { + "input": "anterior ischemic optic neuropathy", + "output": "Ischemic optic neuropathy" + }, + { + "input": "frontal lobe neoplasm", + "output": "Malignant neoplasm of frontal lobe" + }, + { + "input": "conn's syndrome", + "output": "An adrenal adenoma characterized by the over production of aldosterone." + }, + { + "input": "sympathetic ophthalmia", + "output": "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia." + }, + { + "input": "panuveitis", + "output": "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid." + }, + { + "input": "kernicterus due to isoimmunization", + "output": "Kernicterus due to isoimmunization" + }, + { + "input": "allergic disease", + "output": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods." + }, + { + "input": "cryptococcosis", + "output": "An opportunistic mycosis that results_in fungal infection and has_material_basis_in cryptococcus neoformans or cryptococcus gattii." + }, + { + "input": "sarcoid meningitis", + "output": "Sarcoid meningitis" + }, + { + "input": "rett syndrome", + "output": "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability." + }, + { + "input": "mediastinum neurofibroma", + "output": "A neurofibroma that arises from the posterior mediastinum. excision is usually curative." + }, + { + "input": "dieulafoy lesion", + "output": "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" + }, + { + "input": "deep corneal vascularisation", + "output": "Deep vascularization of cornea" + }, + { + "input": "nutritional optic neuropathy", + "output": "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin b, which can be associated with restrictive diets and alcohol abuse." + }, + { + "input": "sodoku disease", + "output": "A primary bacterial infectious disease that results_in infection, has_material_basis_in spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. the infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain." + }, + { + "input": "trigeminal neuralgia", + "output": "Trigeminal neuralgia" + }, + { + "input": "vaginal disease", + "output": "A female reproductive system disease that is located_in the vagina." + }, + { + "input": "optic neuritis", + "output": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision." + }, + { + "input": "pulmonary alveolar microlithiasis", + "output": "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs." + }, + { + "input": "pulmonary hemosiderosis", + "output": "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h." + }, + { + "input": "hemosiderosis", + "output": "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload." + }, + { + "input": "pulmonary alveolar proteinosis", + "output": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange." + }, + { + "input": "postinflammatory pulmonary fibrosis", + "output": "Pulmonary fibrosis, unspecified" + }, + { + "input": "episcleritis periodica fugax", + "output": "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate." + }, + { + "input": "neurotrophic keratoconjunctivitis", + "output": "Neurotrophic keratoconjunctivitis" + }, + { + "input": "pica disease", + "output": "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients." + }, + { + "input": "bulimia nervosa", + "output": "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem." + }, + { + "input": "granulomatosis with polyangiitis", + "output": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ancas) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels." + }, + { + "input": "factor viii deficiency", + "output": "A blood coagulation disease that has_material_basis_in factor viii deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged." + }, + { + "input": "dysthymic disorder", + "output": "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years." + }, + { + "input": "chagas disease", + "output": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily triatominae (family reduviidae), most commonly species belonging to the triatoma, rhodnius, and panstrongylus genera. the symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis." + }, + { + "input": "neurogenic bladder", + "output": "Dysfunction of the urinary bladder due to disease of the central or peripheral nervous system pathways involved in the control of urination. this is often associated with spinal cord diseases, but may also be caused by brain diseases or peripheral nerve diseases." + }, + { + "input": "detrusor sphincter dyssynergia", + "output": "A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. [pmid:26904418]" + }, + { + "input": "alveolar echinococcosis", + "output": "An echinococcosis that is caused by the larvae of echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain." + }, + { + "input": "lymphocytic choriomeningitis", + "output": "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in mammarenavirus choriomeningitidis, which is transmitted by common house mouse, mus musculus. the infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting." + }, + { + "input": "arachnoiditis", + "output": "Meningitis due to other and unspecified causes" + }, + { + "input": "aseptic meningitis", + "output": "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. a large majority of them are caused by enteroviruses." + }, + { + "input": "peripheral retinal degeneration", + "output": "Peripheral retinal degeneration" + }, + { + "input": "pseudoretinitis pigmentosa", + "output": "Secondary pigmentary degeneration" + }, + { + "input": "blessig's cysts", + "output": "Microcystoid degeneration of retina" + }, + { + "input": "retinal lattice degeneration", + "output": "Lattice degeneration of retina" + }, + { + "input": "cobblestone retinal degeneration", + "output": "Paving stone degeneration of retina" + }, + { + "input": "secondary vitreoretinal degeneration", + "output": "Secondary vitreoretinal degeneration" + }, + { + "input": "ulnar nerve lesion", + "output": "Lesion of ulnar nerve" + }, + { + "input": "carpal tunnel syndrome", + "output": "A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm." + }, + { + "input": "fascioloidiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by fascioloides magna." + }, + { + "input": "radial nerve lesion", + "output": "Lesion of radial nerve" + }, + { + "input": "radial neuropathy", + "output": "Disease involving the radial nerve. clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. sensation may be impaired over regions of the dorsal forearm. common sites of compression or traumatic injury include the axilla and radial groove of the humerus." + }, + { + "input": "dyshormonogenic goiter", + "output": "Dyshormogenetic goiter" + }, + { + "input": "goiter", + "output": "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland." + }, + { + "input": "common variable immunodeficiency", + "output": "An agammaglobulinemia that is characterized by low ig levels with phenotypically normal b cells that can proliferate but do not develop into ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens." + }, + { + "input": "tinea corporis", + "output": "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. the border of the rash lesions look scaly." + }, + { + "input": "echinostomiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by echinostoma species. the symptoms include nausea, vomiting, diarrhea, fever and abdominal pain." + }, + { + "input": "otosclerosis", + "output": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule." + }, + { + "input": "dicrocoeliasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by dicrocoelium dendriticum. the symptoms include cholecystitis, liver abscesses and upper abdominal pain." + }, + { + "input": "descending colon cancer", + "output": "Malignant neoplasm of descending colon" + }, + { + "input": "splenic flexure cancer", + "output": "Malignant neoplasm of splenic flexure" + }, + { + "input": "sigmoid colon cancer", + "output": "Malignant neoplasm of sigmoid colon" + }, + { + "input": "superficial keratitis", + "output": "Unspecified superficial keratitis" + }, + { + "input": "punctate epithelial keratoconjunctivitis", + "output": "Punctate keratitis" + }, + { + "input": "dengue disease", + "output": "A viral infectious disease that results in infection, has_material_basis_in dengue virus [ncbitaxon:12637] with four serotypes (dengue virus 1, 2, 3 and 4), which are transmitted by aedes mosquito bite. the infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding." + }, + { + "input": "dengue hemorrhagic fever", + "output": "A dengue disease that occurs when a person experiences a second infection with a heterologous dengue virus serotype, which is transmitted_by aedes mosquito bite. the infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever." + }, + { + "input": "filarial elephantiasis", + "output": "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms wuchereria bancrofti, brugia malayi or brugia timori, which inhabit the lymphatics. these nematodes are transmitted by mosquitoes. acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis." + }, + { + "input": "oligohydramnios", + "output": "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion." + }, + { + "input": "lewy body dementia", + "output": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called lewy bodies, throughout the brain that results in progressive decline in mental abilities." + }, + { + "input": "cartilage disease", + "output": "A connective tissue disease that is located_in cartilage." + }, + { + "input": "plica syndrome", + "output": "Plica syndrome" + }, + { + "input": "cascade stomach", + "output": "Hourglass stricture and stenosis of stomach" + }, + { + "input": "primary biliary cholangitis", + "output": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts." + }, + { + "input": "bile reflux", + "output": "A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus." + }, + { + "input": "anal margin squamous cell carcinoma", + "output": "Squamous cell carcinoma of anal skin" + }, + { + "input": "beta thalassemia", + "output": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin." + }, + { + "input": "testicular lymphoma", + "output": "A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site." + }, + { + "input": "medulloadrenal hyperfunction", + "output": "Adrenomedullary hyperfunction" + }, + { + "input": "hemophilia b", + "output": "A blood coagulation disease that has_material_basis_in factor ix deficiency, which makes coagulation much more prolonged. the disease is inherited as an x-linked recessive trait." + }, + { + "input": "chronic salpingo-oophoritis", + "output": "Chronic salpingitis and oophoritis" + }, + { + "input": "neutropenia", + "output": "Neutropenia" + }, + { + "input": "coloboma", + "output": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc." + }, + { + "input": "aniridia", + "output": "An iris disease that is characterized by a complete or partial absence of the colored part of the eye." + }, + { + "input": "anisometropia", + "output": "Anisometropia" + }, + { + "input": "cutaneous diphtheria", + "output": "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with corynebacterium diphtheriae as the bacteria releases the diphtheria toxin." + }, + { + "input": "malignant tumor of undescended testis", + "output": "Malignant neoplasm of undescended testis" + }, + { + "input": "femoral vein thrombophlebitis", + "output": "Phlebitis and thrombophlebitis of femoral vein" + }, + { + "input": "testicular leukemia", + "output": "A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. microscopically, there is interstitial infiltration of the testis by leukemic cells. acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03" + }, + { + "input": "crimean-congo hemorrhagic fever", + "output": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in orthonairovirus haemorrhagiae, 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." + }, + { + "input": "paranoid schizophrenia", + "output": "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening." + }, + { + "input": "atypical depressive disorder", + "output": "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection." + }, + { + "input": "vogt-koyanagi-harada disease", + "output": "An autoimmune disease that is caused by t helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis." + }, + { + "input": "conjunctival pigmentation", + "output": "Conjunctival pigmentations" + }, + { + "input": "bloch-sulzberger syndrome", + "output": "Incontinentia pigmenti" + }, + { + "input": "vitiligo", + "output": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes." + }, + { + "input": "anterior corneal pigmentation", + "output": "Anterior corneal pigmentations" + }, + { + "input": "dubin-johnson syndrome", + "output": "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile." + }, + { + "input": "urticaria pigmentosa", + "output": "Cutaneous mastocytosis" + }, + { + "input": "stromal corneal pigmentation", + "output": "Stromal corneal pigmentations" + }, + { + "input": "granular corneal dystrophy", + "output": "An epithelial-stromal tgfbi dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea." + }, + { + "input": "cough variant asthma", + "output": "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath." + }, + { + "input": "kyphoscoliotic heart disease", + "output": "Kyphoscoliotic heart disease" + }, + { + "input": "marasmus", + "output": "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation." + }, + { + "input": "transvestism", + "output": "Dual role transvestism" + }, + { + "input": "hematocele of tunica vaginalis testis", + "output": "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele." + }, + { + "input": "male genital organ vascular disease", + "output": "Vascular disorders of male genital organs" + }, + { + "input": "male infertility", + "output": "Male infertility" + }, + { + "input": "varicocele", + "output": "Scrotal varices" + }, + { + "input": "retroperitoneal lymphoma", + "output": "A lymphoma involving the retroperitoneal area." + }, + { + "input": "gender incongruence", + "output": "A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as." + }, + { + "input": "retroperitoneal sarcoma", + "output": "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space." + }, + { + "input": "retroperitoneum carcinoma", + "output": "A rare carcinoma that arises from the retroperitoneal space." + }, + { + "input": "osteogenesis imperfecta", + "output": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-i collagen which results_in brittle bones and defective connective tissue." + }, + { + "input": "primary eye hypotony", + "output": "Primary hypotony of eye" + }, + { + "input": "fetishism", + "output": "Fetishism" + }, + { + "input": "alcoholic hepatitis", + "output": "Acute hepatitis resulting from ingestion of alcohol." + }, + { + "input": "prostatocystitis", + "output": "Prostatocystitis" + }, + { + "input": "viral labyrinthitis", + "output": "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. the symptoms may include hearing loss and ringing in the ears. if the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur." + }, + { + "input": "patulous eustachian tube", + "output": "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection." + }, + { + "input": "lateral displacement of eye", + "output": "Displacement (lateral) of globe" + }, + { + "input": "graves' disease", + "output": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." + }, + { + "input": "intermittent proptosis", + "output": "Intermittent exophthalmos" + }, + { + "input": "pulsating exophthalmos", + "output": "Pulsating exophthalmos" + }, + { + "input": "malaria", + "output": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle." + }, + { + "input": "prolapse of urethra", + "output": "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening." + }, + { + "input": "corneal degeneration", + "output": "Corneal degeneration" + }, + { + "input": "bronchopneumonia", + "output": "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. it is caused by bacteria and viruses." + }, + { + "input": "juvenile spinal muscular atrophy", + "output": "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the smn1 gene on chromosome 5q13." + }, + { + "input": "spinal muscular atrophy", + "output": "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy." + }, + { + "input": "complex partial epilepsy", + "output": "A disorder characterized by recurrent partial seizures marked by impairment of cognition. during the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. focal motor activity, sensory alterations and automatism may also occur. complex partial seizures often originate from foci in one or both temporal lobes. the etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (from adams et al., principles of neurology, 6th ed, pp317-8)" + }, + { + "input": "dysentery", + "output": "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood." + }, + { + "input": "shigellosis", + "output": "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." + }, + { + "input": "balantidiasis", + "output": "A parasitic protozoa infectious disease involving infection caused by balantidium coli. the trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. the infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath." + }, + { + "input": "nephrogenic diabetes insipidus", + "output": "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (adh)." + }, + { + "input": "neurohypophyseal diabetes insipidus", + "output": "A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (avp) on chromosome 20p13." + }, + { + "input": "entropion", + "output": "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (dorland, 27th ed)" + }, + { + "input": "pathological gambling", + "output": "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life." + }, + { + "input": "leukemia", + "output": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells." + }, + { + "input": "kleptomania", + "output": "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen." + }, + { + "input": "intermittent explosive disorder", + "output": "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness." + }, + { + "input": "pyromania", + "output": "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive." + }, + { + "input": "tinea pedis", + "output": "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in trichophyton or has_material_basis_in epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot." + }, + { + "input": "luxation of globe", + "output": "Luxation of globe" + }, + { + "input": "globe disease", + "output": "An eye disease that involves the globe of the eye." + }, + { + "input": "labia minora cancer", + "output": "A vulva cancer that is located_in the labium minora." + }, + { + "input": "aplastic anemia", + "output": "An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow." + }, + { + "input": "vulva cancer", + "output": "A female reproductive organ cancer that is located_in the vulva." + }, + { + "input": "pancytopenia", + "output": "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets." + }, + { + "input": "sulfhemoglobinemia", + "output": "A morbid condition due to the presence of sulfmethemoglobin in the blood. it is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. it is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (stedman, 25th ed)" + }, + { + "input": "secondary hyperparathyroidism of renal origin", + "output": "Secondary hyperparathyroidism of renal origin" + }, + { + "input": "secondary hyperparathyroidism", + "output": "Abnormally elevated parathyroid hormone secretion as a response to hypocalcemia. it is caused by chronic kidney failure or other abnormalities in the controls of bone and mineral metabolism, leading to various bone diseases, such as renal osteodystrophy." + }, + { + "input": "blood coagulation disease", + "output": "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding." + }, + { + "input": "capillariasis", + "output": "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by capillaria species." + }, + { + "input": "vagus nerve disease", + "output": "Disorders of vagus nerve" + }, + { + "input": "vagina leiomyoma", + "output": "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells." + }, + { + "input": "bell's palsy", + "output": "A facial paralysis resulting from dysfunction in the cranial nerve vii (facial nerve)." + }, + { + "input": "tuberculous epididymitis", + "output": "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling." + }, + { + "input": "retinal ischemia", + "output": "An ischemia that is characterized by restriction in blood supply to the retina." + }, + { + "input": "retinal perforation", + "output": "Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. the concept includes retinal breaks, tears, dialyses, and holes." + }, + { + "input": "trichuriasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. the infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation." + }, + { + "input": "bagassosis", + "output": "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes." + }, + { + "input": "plantar nerve lesion", + "output": "Lesion of plantar nerve" + }, + { + "input": "tarsal tunnel syndrome", + "output": "Tarsal tunnel syndrome" + }, + { + "input": "common peroneal nerve lesion", + "output": "Lesion of lateral popliteal nerve" + }, + { + "input": "lesion of sciatic nerve", + "output": "Lesion of sciatic nerve" + }, + { + "input": "von willebrand's disease", + "output": "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. it arises from a qualitative or quantitative deficiency of von willebrand factor (vwf), a multimeric protein that is required for platelet adhesion." + }, + { + "input": "trichostrongylosis", + "output": "A trichostrongyloidiasis that involves infection of the small intestine with trichostrongylus colubriformis or trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia." + }, + { + "input": "atrophic nonflaccid tympanic membrane", + "output": "Atrophic nonflaccid tympanic membrane" + }, + { + "input": "hepatitis a", + "output": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in hepatitis a virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. the infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." + }, + { + "input": "trichostrongyloidiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily trichostrongyloidea." + }, + { + "input": "hepatic coma", + "output": "Hepatic failure, unspecified with coma" + }, + { + "input": "hemolytic-uremic syndrome", + "output": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs." + }, + { + "input": "acute kidney tubular necrosis", + "output": "An acute kidney failure that is characterized by necrosis of epithelial tubule cells." + }, + { + "input": "duane retraction syndrome", + "output": "Duane's syndrome" + }, + { + "input": "chronic progressive external ophthalmoplegia", + "output": "Progressive external ophthalmoplegia" + }, + { + "input": "idiopathic juvenile osteoporosis", + "output": "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis." + }, + { + "input": "ulceration of vulva", + "output": "A vulvar disease that is characterized by the presence of ulcers." + }, + { + "input": "dyscalculia", + "output": "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page." + }, + { + "input": "phacolytic glaucoma", + "output": "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins." + }, + { + "input": "phacogenic glaucoma", + "output": "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss." + }, + { + "input": "neonatal thyrotoxicosis", + "output": "Transitory neonatal hyperthyroidism" + }, + { + "input": "posterior uveitis", + "output": "Inflammation of the choroid as well as the retina and vitreous body. some form of visual disturbance is usually present. the most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." + }, + { + "input": "urethral obstruction", + "output": "Partial or complete blockage in any part of the urethra that can lead to difficulty or inability to empty the urinary bladder. it is characterized by an enlarged, often damaged, bladder with frequent urges to void." + }, + { + "input": "cri-du-chat syndrome", + "output": "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat." + }, + { + "input": "olecranon bursitis", + "output": "Olecranon bursitis" + }, + { + "input": "velocardiofacial syndrome", + "output": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. haploinsufficiency of the tbx1 gene in particular is responsible for most of the physical malformations." + }, + { + "input": "potter's syndrome", + "output": "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus." + }, + { + "input": "parametritis", + "output": "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament." + }, + { + "input": "acute leukemia", + "output": "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream." + }, + { + "input": "perineocele", + "output": "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse." + }, + { + "input": "hypertrophic pyloric stenosis", + "output": "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting." + }, + { + "input": "pyloric stenosis", + "output": "Adult hypertrophic pyloric stenosis" + }, + { + "input": "displacement of cardia through esophageal hiatus", + "output": "Congenital hiatus hernia" + }, + { + "input": "hiatus hernia", + "output": "Diaphragmatic hernia" + }, + { + "input": "vestibulocochlear nerve disease", + "output": "Disorders of acoustic nerve" + }, + { + "input": "tooth ankylosis", + "output": "Ankylosis of teeth" + }, + { + "input": "paracoccidioidomycosis", + "output": "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in paracoccidioides brasiliensis." + }, + { + "input": "blastomycosis", + "output": "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening." + }, + { + "input": "binocular vision disease", + "output": "Unspecified disorder of binocular vision" + }, + { + "input": "abnormal retinal correspondence", + "output": "Abnormal retinal correspondence" + }, + { + "input": "hypercalcemia", + "output": "Hypercalcemia" + }, + { + "input": "nephrocalcinosis", + "output": "A condition characterized by calcification of the renal tissue itself. it is usually seen in distal renal tubular acidosis with calcium deposition in the distal kidney tubules and the surrounding interstitium. nephrocalcinosis causes renal insufficiency." + }, + { + "input": "pseudobulbar palsy", + "output": "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts." + }, + { + "input": "vestibular neuronitis", + "output": "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. it usually results as a complication of an upper respiratory infection. this causes sudden and severe vertigo, nausea and vomiting. auditory symptoms are usually absent." + }, + { + "input": "mixed receptive-expressive language disorder", + "output": "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe." + }, + { + "input": "acoustic neuroma", + "output": "A benign schwannoma of the eighth cranial nerve (vestibulocochlear nerve), mostly arising from the vestibular branch (vestibular nerve) during the fifth or sixth decade of life. clinical manifestations include hearing loss; headache; vertigo; tinnitus; and facial pain. bilateral acoustic neuromas are associated with neurofibromatosis 2. (from adams et al., principles of neurology, 6th ed, p673)" + }, + { + "input": "locked-in syndrome", + "output": "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes." + }, + { + "input": "gynecomastia", + "output": "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels." + }, + { + "input": "leiomyoma", + "output": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells." + }, + { + "input": "hereditary hemorrhagic telangiectasia", + "output": "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins." + }, + { + "input": "hyperprolactinemia", + "output": "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood." + }, + { + "input": "ataxia telangiectasia", + "output": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the atm gene on chromosome 11q22." + }, + { + "input": "friedreich ataxia", + "output": "Friedreich ataxia" + }, + { + "input": "myoclonic cerebellar dyssynergia", + "output": "A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. autosomal recessive and autosomal dominant patterns of inheritance have been reported. pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (from joynt, clinical neurology, 1991, ch37, pp60-1)" + }, + { + "input": "capillary disease", + "output": "A vascular disease that is located_in the capillaries." + }, + { + "input": "black piedra", + "output": "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair." + }, + { + "input": "nephronophthisis", + "output": "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)." + }, + { + "input": "ellis-van creveld syndrome", + "output": "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the evc or evc2 gene on chromosome 4p16.2." + }, + { + "input": "newborn respiratory distress syndrome", + "output": "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." + }, + { + "input": "chronic gonococcal salpingitis", + "output": "A chronic salpingitis that is caused by gonorrhea." + }, + { + "input": "telangiectasis", + "output": "Permanent dilation of preexisting blood vessels (capillaries; arterioles; venules) creating small focal red lesions, most commonly in the skin or mucous membranes. it is characterized by the prominence of skin blood vessels, such as vascular spiders." + }, + { + "input": "cerebral atherosclerosis", + "output": "Cerebral atherosclerosis" + }, + { + "input": "multiple epiphyseal dysplasia", + "output": "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." + }, + { + "input": "respiratory syncytial virus infectious disease", + "output": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. the infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress." + }, + { + "input": "pars planitis", + "output": "Posterior cyclitis" + }, + { + "input": "intermediate uveitis", + "output": "Inflammation of the pars plana, ciliary body, and adjacent structures." + }, + { + "input": "hypercementosis", + "output": "Hypercementosis" + }, + { + "input": "hernia of ovary and fallopian tube", + "output": "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall." + }, + { + "input": "cyclosporiasis", + "output": "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." + }, + { + "input": "corneal staphyloma", + "output": "Corneal staphyloma" + }, + { + "input": "lacrimal duct cancer", + "output": "A primary or metastatic malignant neoplasm affecting the lacrimal duct." + }, + { + "input": "choroid cancer", + "output": "Malignant neoplasm of choroid" + }, + { + "input": "tolosa-hunt syndrome", + "output": "An idiopathic syndrome characterized by the formation of granulation tissue in the anterior cavernous sinus or superior orbital fissure, producing a painful ophthalmoplegia. (adams et al., principles of neurology, 6th ed, p271)" + }, + { + "input": "cicatricial ectropion", + "output": "An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. [orcid:0000-0003-0986-4123]" + }, + { + "input": "migraine without aura", + "output": "A migraine that is characterized by migraine headaches that are not accompanied by an aura." + }, + { + "input": "ocular motility disease", + "output": "Disorders that feature impairment of eye movements as a primary manifestation of disease. these conditions may be divided into infranuclear, nuclear, and supranuclear disorders. diseases of the eye muscles or oculomotor cranial nerves (iii, iv, and vi) are considered infranuclear. nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the brain stem. supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the cerebral cortex; basal ganglia; cerebellum; and brain stem. ocular torticollis refers to a head tilt that is caused by an ocular misalignment. opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., opsoclonus-myoclonus syndrome). (adams et al., principles of neurology, 6th ed, p240)" + }, + { + "input": "hallucinogen abuse", + "output": "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences." + }, + { + "input": "mucopolysaccharidosis", + "output": "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine." + }, + { + "input": "mucopolysaccharidosis ii", + "output": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase." + }, + { + "input": "mucopolysaccharidosis vi", + "output": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme n-acetylgalactosamine 4-sulfatase." + }, + { + "input": "mucopolysaccharidosis iii", + "output": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain." + }, + { + "input": "mucopolysaccharidosis i", + "output": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-l-iduronidase." + }, + { + "input": "sly syndrome", + "output": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans." + }, + { + "input": "mucopolysaccharidosis iv", + "output": "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (type a) or beta-galactosidase (type b) needed to break down the keratan sulfate sugar chain." + }, + { + "input": "chronic lacrimal gland enlargement", + "output": "Chronic enlargement of lacrimal gland" + }, + { + "input": "enterocele", + "output": "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall." + }, + { + "input": "quadriplegia", + "output": "Quadriplegia" + }, + { + "input": "senile entropion", + "output": "An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. [orcid:0000-0003-0986-4123]" + }, + { + "input": "thyroid crisis", + "output": "A dangerous life-threatening hypermetabolic condition characterized by high fever and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." + }, + { + "input": "prolapse of female genital organ", + "output": "A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening." + }, + { + "input": "ancylostomiasis", + "output": "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes ancylostoma braziliense, ancylostoma ceylanicum, ancylostoma duodenale or ancylostoma caninum. the larvae cause lesions on the skin at the site of penetration. the infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition." + }, + { + "input": "guillain-barre syndrome", + "output": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." + }, + { + "input": "autistic disorder", + "output": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years." + }, + { + "input": "rectal disease", + "output": "Pathological developments in the rectum region of the large intestine (intestine, large)." + }, + { + "input": "achilles bursitis", + "output": "Achilles tendinitis" + }, + { + "input": "huntington's disease", + "output": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of cag triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." + }, + { + "input": "choreatic disease", + "output": "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." + }, + { + "input": "cardiovascular system disease", + "output": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and ph to maintain homeostasis." + }, + { + "input": "hypochondriasis", + "output": "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness." + }, + { + "input": "miller fisher syndrome", + "output": "A guillain-barre syndrome that manifests as a descending paralysis. it usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." + }, + { + "input": "neurodegenerative disease", + "output": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons." + }, + { + "input": "sjogren's syndrome", + "output": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva." + }, + { + "input": "keratoconjunctivitis sicca", + "output": "Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. when found in association with xerostomia and polyarthritis, it is called sjogren's syndrome." + }, + { + "input": "submandibular gland disease", + "output": "Diseases involving the submandibular gland." + }, + { + "input": "benign lymphoepithelial lesion of salivary gland", + "output": "Other diseases of salivary glands" + }, + { + "input": "mikulicz disease", + "output": "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection." + }, + { + "input": "necrotizing sialometaplasia", + "output": "Other diseases of salivary glands" + }, + { + "input": "mucocele of salivary gland", + "output": "Mucocele of salivary gland" + }, + { + "input": "sialolithiasis", + "output": "Sialolithiasis" + }, + { + "input": "thromboangiitis obliterans", + "output": "Thromboangiitis obliterans [buerger's disease]" + }, + { + "input": "plasmodium ovale malaria", + "output": "A malaria characterized as a relatively mild form caused by a parasite plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously." + }, + { + "input": "hypodermyiasis", + "output": "A myiasis that involves parasitic infestation of warble flies of the genus hypoderma, on cattle and deer and dermatobia hominis on humans. the larvae of human botfly, dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful." + }, + { + "input": "screw worm infectious disease", + "output": "A myiasis that involves parasitic infestation of cochliomyia hominivorax or chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. in cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. chrysomya bezziana larvae feed and can cause permanent tissue damage." + }, + { + "input": "endocardial fibroelastosis", + "output": "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers." + }, + { + "input": "labia minora carcinoma", + "output": "A vulva carcinoma that is located_in the labia minora." + }, + { + "input": "dilated cardiomyopathy", + "output": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." + }, + { + "input": "endomyocardial fibrosis", + "output": "A condition characterized by the thickening of the ventricular endocardium and subendocardium (myocardium), seen mostly in children and young adults in the tropical climate. the fibrous tissue extends from the apex toward and often involves the heart valves causing restrictive blood flow into the respective ventricles (cardiomyopathy, restrictive)." + }, + { + "input": "kearns-sayre syndrome", + "output": "Kearns-sayre syndrome" + }, + { + "input": "alcoholic cardiomyopathy", + "output": "Alcoholic cardiomyopathy" + }, + { + "input": "vulva carcinoma", + "output": "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "paralytic lagophthalmos", + "output": "Paralytic lagophthalmos" + }, + { + "input": "lagophthalmos", + "output": "Lagophthalmos" + }, + { + "input": "acrocephalosyndactylia", + "output": "A synostosis that results_in craniosynostosis and syndactyly." + }, + { + "input": "poland syndrome", + "output": "A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand." + }, + { + "input": "subleukemic leukemia", + "output": "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal." + }, + { + "input": "central nervous system leukemia", + "output": "A hematologic cancer located_in the central nervous system." + }, + { + "input": "hereditary spherocytosis", + "output": "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape." + }, + { + "input": "plasmodium vivax malaria", + "output": "A malaria that is caused by the protozoan parasite plasmodium vivax, which induces paroxysms at 48-hour intervals." + }, + { + "input": "leukostasis", + "output": "Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. the brain and lungs are the two most commonly affected organs. this acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. it is differentiated from leukemic infiltration which is a neoplastic process where leukemic cells invade organs." + }, + { + "input": "agranulocytosis", + "output": "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm\u00b3 of blood." + }, + { + "input": "conduct disorder", + "output": "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated." + }, + { + "input": "acute dacryocystitis", + "output": "Acute dacryocystitis" + }, + { + "input": "phlegmonous dacryocystitis", + "output": "Phlegmonous dacryocystitis" + }, + { + "input": "carotid stenosis", + "output": "Narrowing or stricture of any part of the carotid arteries, most often due to atherosclerotic plaque formation. ulcerations may form in atherosclerotic plaques and induce thrombus formation. platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a transient ischemic attack; cerebrovascular accident; or temporary blindness (amaurosis fugax). (from adams et al., principles of neurology, 6th ed, pp 822-3)" + }, + { + "input": "subclavian steal syndrome", + "output": "A clinically significant reduction in blood supply to the brain stem and cerebellum (i.e., vertebrobasilar insufficiency) resulting from reversal of blood flow through the vertebral artery from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. common symptoms include vertigo; syncope; and intermittent claudication of the involved upper extremity. subclavian steal may also occur in asymptomatic individuals. (from j cardiovasc surg 1994;35(1):11-4; acta neurol scand 1994;90(3):174-8)" + }, + { + "input": "vertebrobasilar insufficiency", + "output": "Vertebro-basilar artery syndrome" + }, + { + "input": "shipyard eye", + "output": "Keratoconjunctivitis due to adenovirus" + }, + { + "input": "retinopathy of prematurity", + "output": "Retinopathy of prematurity" + }, + { + "input": "lobomycosis", + "output": "A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions." + }, + { + "input": "transient global amnesia", + "output": "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories." + }, + { + "input": "balanoposthitis", + "output": "Balanoposthitis" + }, + { + "input": "balanitis", + "output": "Balanitis" + }, + { + "input": "relapsing fever", + "output": "A primary bacterial infectious disease that results_in infection, has_material_basis_in borrelia, which is transmitted_by tick or transmitted_by body louse." + }, + { + "input": "louse-borne relapsing fever", + "output": "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in borrelia recurrentis, which is transmitted_by body louse (pediculus humanus). the infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy." + }, + { + "input": "tick-borne relapsing fever", + "output": "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in borrelia hermsii, has_material_basis_in borrelia parkeri or has_material_basis_in borrelia duttoni, which are transmitted_by soft ticks (ornithodoros parkeri and ornithodoros hermsii). the infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy." + }, + { + "input": "mechanical lagophthalmos", + "output": "Mechanical lagophthalmos" + }, + { + "input": "cicatricial lagophthalmos", + "output": "Cicatricial lagophthalmos" + }, + { + "input": "persistent fetal circulation syndrome", + "output": "Persistent fetal circulation" + }, + { + "input": "acute sphenoidal sinusitis", + "output": "A sphenoid sinusitis which lasts for less than 4 weeks." + }, + { + "input": "corpus luteum cyst", + "output": "An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release." + }, + { + "input": "traumatic glaucoma", + "output": "A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation." + }, + { + "input": "renal osteodystrophy", + "output": "Renal osteodystrophy" + }, + { + "input": "dementia", + "output": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior." + }, + { + "input": "acquired hyperkeratosis", + "output": "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." + }, + { + "input": "tinea unguium", + "output": "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. sometimes, white islands are seen on the external nail plates. these gradually coalesce until the entire nail plate is involved." + }, + { + "input": "eumycotic mycetoma", + "output": "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules." + }, + { + "input": "jaccoud's syndrome", + "output": "An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity." + }, + { + "input": "hemangioma of subcutaneous tissue", + "output": "A hemangioma arising from the subcutaneous soft tissues." + }, + { + "input": "lown-ganong-levine syndrome", + "output": "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles." + }, + { + "input": "periventricular leukomalacia", + "output": "Neonatal cerebral leukomalacia" + }, + { + "input": "intracranial arterial disease", + "output": "Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. they include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." + }, + { + "input": "branch retinal artery occlusion", + "output": "Retinal artery branch occlusion" + }, + { + "input": "sneddon syndrome", + "output": "An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the cecr1 gene (ada2) on chromosome 22q11." + }, + { + "input": "intracranial arteriosclerosis", + "output": "Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. there are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis." + }, + { + "input": "central retinal artery occlusion", + "output": "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery." + }, + { + "input": "moyamoya disease", + "output": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. blood flow is blocked by the constriction and also by blood clots." + }, + { + "input": "intracranial vasospasm", + "output": "Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain)." + }, + { + "input": "bladder leiomyoma", + "output": "A bladder benign neoplasm that derives_from smooth muscle cells." + }, + { + "input": "bladder squamous papilloma", + "output": "A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium." + }, + { + "input": "mechanical entropion", + "output": "A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. [orcid:0000-0003-0986-4123]" + }, + { + "input": "cicatricial entropion", + "output": "Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. [orcid:0000-0003-0986-4123]" + }, + { + "input": "paronychia", + "output": "A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. the infection can start suddenly (acute paronychia) or gradually (chronic paronychia). puss is usually present, along with gradual thickening and browning discoloration of the nail plate." + }, + { + "input": "focal segmental glomerulosclerosis", + "output": "A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. clinical features include proteinuria, reduced glomerular filtration rate, and edema. kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual kidney failure." + }, + { + "input": "protein-deficiency anemia", + "output": "Protein deficiency anemia" + }, + { + "input": "severe pre-eclampsia", + "output": "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." + }, + { + "input": "hellp syndrome", + "output": "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count." + }, + { + "input": "hordeolum externum", + "output": "A blepharitis that is characterized by an infection of the sebaceous glands of zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of moll." + }, + { + "input": "werdnig-hoffmann disease", + "output": "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the smn gene, known as smn1, on chromosome 5q13." + }, + { + "input": "crescentic glomerulonephritis", + "output": "Crescentic glomerulonephritis, the cause of which is unknown." + }, + { + "input": "suppurative uveitis", + "output": "A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically." + }, + { + "input": "uveitis", + "output": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid." + }, + { + "input": "benign secondary hypertension", + "output": "Mild to moderate high blood pressure that is caused by an underlying medical condition." + }, + { + "input": "benign renovascular hypertension", + "output": "A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis." + }, + { + "input": "esophageal candidiasis", + "output": "A candidiasis that involves fungal infection of the esophagus by candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain." + }, + { + "input": "fungal esophagitis", + "output": "Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. it usually affects patients with immunodeficiency disorders or diabetes mellitus. symptoms include dysphagia and pain on swallowing." + }, + { + "input": "acute cystitis", + "output": "A cystitis characterized by a sudden onset or severe symptoms." + }, + { + "input": "scrotum squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the scrotum." + }, + { + "input": "scrotum melanoma", + "output": "A melanoma arising from the scrotum." + }, + { + "input": "allergic bronchopulmonary aspergillosis", + "output": "An aspergillosis that involves an allergic reaction due to the spores of aspergillus moulds (a. fumigatus), which colonizes the mucus in the airways causing inflammation. the disease has symptom cough, has symptom wheezing and has symptom fever." + }, + { + "input": "prepuce cancer", + "output": "Malignant neoplasm of prepuce" + }, + { + "input": "spermatic cord cancer", + "output": "Malignant neoplasm of spermatic cord" + }, + { + "input": "dissociated nystagmus", + "output": "Dissociated nystagmus" + }, + { + "input": "esophageal diverticulosis", + "output": "A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus." + }, + { + "input": "megaesophagus", + "output": "An abnormal dilation of the esophagus not due to obstruction." + }, + { + "input": "gout", + "output": "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint." + }, + { + "input": "brain cancer", + "output": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." + }, + { + "input": "nontoxic goiter", + "output": "Nontoxic goiter, unspecified" + }, + { + "input": "lingual goiter", + "output": "Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. it may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms." + }, + { + "input": "nodular goiter", + "output": "An enlarged thyroid gland containing multiple nodules (thyroid nodule), usually resulting from recurrent thyroid hyperplasia and involution over many years to produce the irregular enlargement. multinodular goiters may be nontoxic or may induce thyrotoxicosis." + }, + { + "input": "endemic goiter", + "output": "A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency." + }, + { + "input": "substernal goiter", + "output": "An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. it is an unusual presentation of an intrathoracic goiter. substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms." + }, + { + "input": "nodular prostate", + "output": "Benign prostatic hyperplasia" + }, + { + "input": "proliferative diabetic retinopathy", + "output": "Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. the new vessels are abnormal and fragile. if hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness." + }, + { + "input": "background diabetic retinopathy", + "output": "An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels." + }, + { + "input": "hole retinal cyst", + "output": "Macular cyst, hole, or pseudohole" + }, + { + "input": "submucous uterine fibroid", + "output": "An uterine fibroid that is located adjacent to the lining of the uterus." + }, + { + "input": "uterine fibroid", + "output": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus." + }, + { + "input": "oculoglandular tularemia", + "output": "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear." + }, + { + "input": "haverhill fever", + "output": "A primary bacterial infectious disease that results_in infection, has_material_basis_in streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. the infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain." + }, + { + "input": "lung cancer", + "output": "A respiratory system cancer that is located_in the lung." + }, + { + "input": "tooth resorption", + "output": "Pathological resorption of teeth" + }, + { + "input": "behcet's disease", + "output": "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." + }, + { + "input": "mucocele of appendix", + "output": "Accumulation of mucus within the appendix." + }, + { + "input": "pneumatosis cystoides intestinalis", + "output": "A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the intestine. the majority of the cysts are found in the jejunum and the ileum." + }, + { + "input": "bronchus cancer", + "output": "A respiratory system cancer that is located_in the bronchus." + }, + { + "input": "diarrhea", + "output": "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. the loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. there are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea." + }, + { + "input": "mesenteric vascular occlusion", + "output": "Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (from juergens et al., peripheral vascular diseases, 5th ed, pp295-6)" + }, + { + "input": "diverticulitis of colon", + "output": "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall." + }, + { + "input": "typhoid fever", + "output": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in salmonella enterica subsp enterica serovar typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. the infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia." + }, + { + "input": "porphyria", + "output": "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins." + }, + { + "input": "hereditary coproporphyria", + "output": "Other porphyria" + }, + { + "input": "erythropoietic protoporphyria", + "output": "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue." + }, + { + "input": "cutaneous porphyria", + "output": "Hereditary erythropoietic porphyria" + }, + { + "input": "klebsiella pneumonia", + "output": "A bacterial pneumonia involving klebsiella pneumoniae infection. patients with klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. the symptoms include high fever, rigors and pleuritic pain, and hemoptysis." + }, + { + "input": "mycoplasma pneumoniae pneumonia", + "output": "A bacterial pneumonia that is caused by the bacterial species mycoplasma pneumoniae. the symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat." + }, + { + "input": "rift valley fever", + "output": "A viral infectious disease that results_in infection, has_material_basis_in rift valley fever virus, which is transmitted_by aedes mosquitoes. the virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. the infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites." + }, + { + "input": "intestinal tuberculosis", + "output": "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." + }, + { + "input": "vaginal mullerian papilloma", + "output": "A vaginal benign neoplasm that presents in childhood and is considered to be of mullerian origin." + }, + { + "input": "scheuermann's disease", + "output": "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column." + }, + { + "input": "diphtheritic cystitis", + "output": "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder." + }, + { + "input": "diphtheritic peritonitis", + "output": "A peritonitis which involves inflammation of peritoneal cavity by corynebacterium diphtheriae." + }, + { + "input": "exocrine pancreatic insufficiency", + "output": "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine." + }, + { + "input": "hyperinsulinemic hypoglycemia", + "output": "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin." + }, + { + "input": "chronic follicular conjunctivitis", + "output": "Chronic follicular conjunctivitis" + }, + { + "input": "anatomical narrow angle borderline glaucoma", + "output": "A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. these additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy." + }, + { + "input": "diabetic cataract", + "output": "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus." + }, + { + "input": "toxic optic neuropathy", + "output": "Toxic optic neuropathy" + }, + { + "input": "hypertrophy of tongue papillae", + "output": "Hypertrophy of tongue papillae" + }, + { + "input": "congenital toxoplasmosis", + "output": "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. spontaneous abortion and stillbirth may occur." + }, + { + "input": "laryngeal cartilage cancer", + "output": "Malignant neoplasm of laryngeal cartilage" + }, + { + "input": "pedophilia", + "output": "Pedophilia" + }, + { + "input": "ego-dystonic sexual orientation", + "output": "A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation." + }, + { + "input": "diffuse interstitial keratitis", + "output": "Diffuse interstitial keratitis" + }, + { + "input": "chondromalacia patellae", + "output": "Chondromalacia patellae" + }, + { + "input": "ehlers-danlos syndrome", + "output": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. eds has five cardinal signs, which may be present to some degree in all of the subtypes. these five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules." + }, + { + "input": "reading disorder", + "output": "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process." + }, + { + "input": "stiff-person syndrome", + "output": "A movement disease that is of unknown etiology characterized by progressive rigidity." + }, + { + "input": "tinea profunda", + "output": "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses." + }, + { + "input": "tinea manuum", + "output": "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling." + }, + { + "input": "scrub typhus", + "output": "A typhus that has_material_basis_in orientia tsutsugamushi, which is transmitted by trombiculid mites (leptotrombidium deliense). the infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy." + }, + { + "input": "alpha 1-antitrypsin deficiency", + "output": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (a1at), leading to decreased a1at activity in the blood and lungs, and deposition of excessive abnormal a1at protein in liver cells." + }, + { + "input": "fibrodysplasia ossificans progressiva", + "output": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the acvr1 gene." + }, + { + "input": "temporal arteritis", + "output": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head." + }, + { + "input": "kawasaki disease", + "output": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities." + }, + { + "input": "congenital dyserythropoietic anemia", + "output": "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." + }, + { + "input": "pernicious anemia", + "output": "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin b12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors." + }, + { + "input": "megaloblastic anemia", + "output": "A macrocytic anemia that is characterized by inhibition of dna synthesis during red blood cell production." + }, + { + "input": "gastrointestinal anthrax", + "output": "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. the infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite." + }, + { + "input": "labia majora carcinoma", + "output": "A vulva carcinoma that is located_in the labia majora." + }, + { + "input": "diamond-blackfan anemia", + "output": "A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction." + }, + { + "input": "color blindness", + "output": "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions." + }, + { + "input": "vaginal glandular tumor", + "output": "A vaginal cancer that has_material_basis_in glandular tissue." + }, + { + "input": "pure red-cell aplasia", + "output": "Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production." + }, + { + "input": "angioid streaks", + "output": "Small breaks in the elastin-filled tissue of the retina." + }, + { + "input": "skin sarcoidosis", + "output": "Sarcoidosis of skin" + }, + { + "input": "neurosarcoidosis", + "output": "A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type iv hypersensitivity reaction with noncaseating granulomas involving the nervous system." + }, + { + "input": "uveoparotid fever", + "output": "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type iv hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve." + }, + { + "input": "cardiac sarcoidosis", + "output": "A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type iv hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle." + }, + { + "input": "pulmonary sarcoidosis", + "output": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type iv hypersensitivity reaction." + }, + { + "input": "perforation of bile duct", + "output": "Perforation of bile duct" + }, + { + "input": "hepatic encephalopathy", + "output": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood." + }, + { + "input": "alexia", + "output": "An agnosia that is a loss of the ability to recognize text." + }, + { + "input": "neurogenic bowel", + "output": "Loss or absence of normal intestinal function due to nerve damage or birth defects. it is characterized by the inability to control the elimination of stool from the body." + }, + { + "input": "congenital hypoplastic anemia", + "output": "Constitutional aplastic anemia" + }, + { + "input": "urethritis", + "output": "Other urethritis" + }, + { + "input": "bejel", + "output": "A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. the infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. these lumps destroy tissue, causing bones to be deformed and disfiguring the face." + }, + { + "input": "glanders", + "output": "A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. the infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs." + }, + { + "input": "basilar artery occlusion", + "output": "Occlusion and stenosis of basilar artery" + }, + { + "input": "corneal argyrosis", + "output": "Argentous corneal deposits" + }, + { + "input": "posterior corneal pigmentation", + "output": "Posterior corneal pigmentations" + }, + { + "input": "coccidioidomycosis", + "output": "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules." + }, + { + "input": "scleritis", + "output": "Scleritis" + }, + { + "input": "gonococcal bursitis", + "output": "Gonococcal infection of other musculoskeletal tissue" + }, + { + "input": "urethral intrinsic sphincter deficiency", + "output": "Intrinsic sphincter deficiency (isd)" + }, + { + "input": "central pterygium", + "output": "A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. central pterygiums progress from pinguecula." + }, + { + "input": "progressive peripheral pterygium", + "output": "A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. progressive peripheral pterygiums progress from pinguecula." + }, + { + "input": "supraglottis cancer", + "output": "Malignant neoplasm of supraglottis" + }, + { + "input": "balanitis xerotica obliterans", + "output": "A balantitis characterized by white plaques or patches on genitals." + }, + { + "input": "thanatophoric dysplasia", + "output": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." + }, + { + "input": "proteus syndrome", + "output": "A pten hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues." + }, + { + "input": "childhood disintegrative disease", + "output": "A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress." + }, + { + "input": "urethral syndrome", + "output": "Urethral syndrome, unspecified" + }, + { + "input": "jejunal cancer", + "output": "Malignant neoplasm of jejunum" + }, + { + "input": "benign vaginal carcinosarcoma", + "output": "A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." + }, + { + "input": "paranasal sinus benign neoplasm", + "output": "Tumors or cancer of the paranasal sinuses." + }, + { + "input": "hairy tongue", + "output": "A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. the color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (dorland, 27th ed)" + }, + { + "input": "moebius syndrome", + "output": "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s)." + }, + { + "input": "trigonitis", + "output": "Trigonitis" + }, + { + "input": "tuberous sclerosis", + "output": "A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body." + }, + { + "input": "paranasal sinus disease", + "output": "Diseases affecting or involving the paranasal sinuses and generally manifesting as inflammation, abscesses, cysts, or tumors." + }, + { + "input": "neonatal infective mastitis", + "output": "Neonatal infective mastitis" + }, + { + "input": "tetanus neonatorum", + "output": "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. the infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion." + }, + { + "input": "loiasis", + "output": "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode loa loa, which is transmitted through the bite of a deer fly or mango fly. the disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis." + }, + { + "input": "osteopetrosis", + "output": "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones." + }, + { + "input": "purulent labyrinthitis", + "output": "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. this is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma." + }, + { + "input": "cornea squamous cell carcinoma", + "output": "A rare squamous cell carcinoma that arises from the cornea." + }, + { + "input": "hyperparathyroidism", + "output": "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body." + }, + { + "input": "low tension glaucoma", + "output": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision." + }, + { + "input": "secondary parkinson disease", + "output": "Secondary parkinsonism" + }, + { + "input": "interval angle-closure glaucoma", + "output": "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow." + }, + { + "input": "paranasal sinus lymphoma", + "output": "A lymphoma that arises from the paranasal sinus. representative examples include diffuse large b-cell lymphoma and extranodal nk/t-cell lymphoma, nasal type." + }, + { + "input": "angle-closure glaucoma", + "output": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis." + }, + { + "input": "subserous uterine fibroid", + "output": "An uterine fibroid that is located adjacent to the outside of the uterus." + }, + { + "input": "optic disk drusen", + "output": "Drusen of optic disc" + }, + { + "input": "aspergillosis", + "output": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. it is a serious illnesses in people with a weakened immune system." + }, + { + "input": "neuroaspergillosis", + "output": "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by aspergillus, presenting as a space-occupying lesion." + }, + { + "input": "maxillary sinus cancer", + "output": "Malignant neoplasm of maxillary sinus" + }, + { + "input": "cortical senile cataract", + "output": "A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging." + }, + { + "input": "twin-to-twin transfusion syndrome", + "output": "Fetus-to-fetus placental transfusion syndrome" + }, + { + "input": "kwashiorkor", + "output": "A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone." + }, + { + "input": "maxillary sinus benign neoplasm", + "output": "Tumors or cancer of the maxillary sinus. they represent the majority of paranasal neoplasms." + }, + { + "input": "cholestasis", + "output": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum." + }, + { + "input": "alveolar periostitis", + "output": "Alveolitis of jaws" + }, + { + "input": "female infertility of uterine origin", + "output": "A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year." + }, + { + "input": "eclampsia", + "output": "A pre-eclampsia characterized by the presence of seizures." + }, + { + "input": "vaginal carcinosarcoma", + "output": "A vaginal carcinoma that has_material_basis_in connective tissue." + }, + { + "input": "frontal sinus cancer", + "output": "Malignant neoplasm of frontal sinus" + }, + { + "input": "obstructive jaundice", + "output": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction." + }, + { + "input": "biliary atresia", + "output": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder." + }, + { + "input": "frontal sinus benign neoplasm", + "output": "A benign or malignant neoplasm that affects the frontal sinus. representative examples of benign neoplasms include schneiderian papilloma and salivary gland-type adenoma. representative examples of malignant neoplasms include carcinoma and lymphoma." + }, + { + "input": "extrahepatic cholestasis", + "output": "A cholestasis resulting from causes located_in bile ducts outside the liver." + }, + { + "input": "paranasal sinus sarcoma", + "output": "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus." + }, + { + "input": "patent foramen ovale", + "output": "Patent foramen ovale" + }, + { + "input": "campylobacteriosis", + "output": "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. the infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever." + }, + { + "input": "photokeratitis", + "output": "Photokeratitis" + }, + { + "input": "favism", + "output": "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans." + }, + { + "input": "ethmoid sinus cancer", + "output": "Malignant neoplasm of ethmoidal sinus" + }, + { + "input": "fanconi anemia", + "output": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. it is a result of a genetic defect in a cluster of proteins responsible for dna repair." + }, + { + "input": "ethmoidal sinus benign neoplasm", + "output": "A benign or malignant neoplasm that affects the ethmoid sinus. representative examples of benign neoplasms include schneiderian papilloma and salivary gland-type adenoma. representative examples of malignant neoplasms include carcinoma and lymphoma." + }, + { + "input": "exfoliation syndrome", + "output": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures." + }, + { + "input": "eversion of lacrimal punctum", + "output": "Eversion of lacrimal punctum" + }, + { + "input": "stenosis of lacrimal punctum", + "output": "Stenosis of lacrimal punctum" + }, + { + "input": "stenosis of lacrimal passage", + "output": "Stenosis of lacrimal canaliculi" + }, + { + "input": "acquired tear duct stenosis", + "output": "Acquired stenosis of nasolacrimal duct" + }, + { + "input": "ulcer of anus and rectum", + "output": "Ulcer of anus and rectum" + }, + { + "input": "post-vaccinal encephalitis", + "output": "Postimmunization acute disseminated encephalitis, myelitis and encephalomyelitis" + }, + { + "input": "posterior scleritis", + "output": "Posterior scleritis" + }, + { + "input": "sapho syndrome", + "output": "A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis." + }, + { + "input": "chronic duodenal ileus", + "output": "Obstruction of duodenum" + }, + { + "input": "prostate calculus", + "output": "Calculus of prostate" + }, + { + "input": "acute gonococcal cystitis", + "output": "An acute cystitis that is caused by gonorrhea." + }, + { + "input": "dermoid cyst of skin", + "output": "A dermoid cyst that is located_in the skin." + }, + { + "input": "vaginal squamous papilloma", + "output": "A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium." + }, + { + "input": "premature ejaculation", + "output": "Premature ejaculation" + }, + { + "input": "uterine corpus adenomatoid tumor", + "output": "An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium." + }, + { + "input": "dental fluorosis", + "output": "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation." + }, + { + "input": "anodontia", + "output": "A tooth disease that is characterized by complete absence of permanent teeth." + }, + { + "input": "mature cataract", + "output": "A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. it is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging." + }, + { + "input": "neuroschistosomiasis", + "output": "A schistosomiasis that involves parasitic infection of the brain and spinal cord by schistosoma haematobium, schistosoma mansoni or schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure." + }, + { + "input": "scurvy", + "output": "A nutritional deficiency disease that is characterized by vitamin c (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing." + }, + { + "input": "beriberi", + "output": "A thiamine deficiency disease that is characterized by being severe and chronic." + }, + { + "input": "endometrial stromal nodule", + "output": "An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma." + }, + { + "input": "panophthalmitis", + "output": "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. pain may be severe and the globe may rupture. in endophthalmitis the globe does not rupture." + }, + { + "input": "uterine inflammatory disease", + "output": "A uterine disease that is characterized by inflammation." + }, + { + "input": "hepatic infarction", + "output": "Infarction of liver" + }, + { + "input": "nutmeg liver", + "output": "Chronic passive congestion of liver" + }, + { + "input": "neurofibroma of spinal cord", + "output": "A neurofibroma that arises from the spinal cord." + }, + { + "input": "spinal cord lipoma", + "output": "A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord." + }, + { + "input": "neonatal urinary tract infectious disease", + "output": "Neonatal urinary tract infection" + }, + { + "input": "epiphora due to insufficient drainage", + "output": "Epiphora due to insufficient drainage" + }, + { + "input": "excessive tearing", + "output": "Epiphora" + }, + { + "input": "pthirus pubis infestation", + "output": "A lice infestation that involves parasitic infestation by pubic lice pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. the symptoms include itching in the pubic and groin area. intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin." + }, + { + "input": "clonorchiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by clonorchis sinensis. the symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. in long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop." + }, + { + "input": "opisthorchiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by opisthorchis viverrini or opisthorchis felineus. the symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma." + }, + { + "input": "addison's disease", + "output": "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands." + }, + { + "input": "plantar wart", + "output": "A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot." + }, + { + "input": "epidermodysplasia verruciformis", + "output": "A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. it is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body." + }, + { + "input": "chancroid", + "output": "A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in haemophilus ducreyi, which is transmitted by sexual contact. the infection has symptom painful and soft ulcers." + }, + { + "input": "hypermobility syndrome", + "output": "Hypermobility syndrome" + }, + { + "input": "localized anterior staphyloma", + "output": "Localized anterior staphyloma" + }, + { + "input": "equatorial staphyloma", + "output": "Equatorial staphyloma" + }, + { + "input": "staphyloma posticum", + "output": "Staphyloma posticum" + }, + { + "input": "acute tympanitis", + "output": "Acute myringitis" + }, + { + "input": "myringitis bullosa hemorrhagica", + "output": "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection." + }, + { + "input": "anterior scleritis", + "output": "Anterior scleritis" + }, + { + "input": "female breast central part cancer", + "output": "A female breast cancer that is located_in the center of the breast." + }, + { + "input": "vaginal squamous tumor", + "output": "A vaginal cancer that has_material_basis_in squamous tissue." + }, + { + "input": "endometrial cancer", + "output": "A uterine cancer that is located_in tissues lining the uterus." + }, + { + "input": "inclusion conjunctivitis", + "output": "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in chlamydia trachomatis, which is transmitted_by sexual contact. the infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus." + }, + { + "input": "pharyngoconjunctival fever", + "output": "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in human adenovirus 3 or has_material_basis_in human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. the infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache." + }, + { + "input": "familial combined hyperlipidemia", + "output": "Other hyperlipidemia" + }, + { + "input": "fox-fordyce disease", + "output": "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla." + }, + { + "input": "familial hypercholesterolemia", + "output": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (ldl) and early cardiovascular disease." + }, + { + "input": "chronic subinvolution of uterus", + "output": "A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy." + }, + { + "input": "adhesions of uterus", + "output": "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure." + }, + { + "input": "hypoglossal nerve disease", + "output": "A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve)." + }, + { + "input": "lymphogranuloma venereum", + "output": "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. the infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis." + }, + { + "input": "miliaria", + "output": "A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts." + }, + { + "input": "tetanic cataract", + "output": "A cataract resulting from hypocalcemia." + }, + { + "input": "squamous blepharitis", + "output": "Squamous blepharitis" + }, + { + "input": "sweat gland disease", + "output": "A skin disease located_in the sweat glands." + }, + { + "input": "patent ductus arteriosus", + "output": "Patent ductus arteriosus" + }, + { + "input": "extrapyramidal and movement disease", + "output": "Extrapyramidal and movement disorder, unspecified" + }, + { + "input": "abetalipoproteinemia", + "output": "A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of beta-lipoproteins." + }, + { + "input": "scleroperikeratitis", + "output": "A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection." + }, + { + "input": "acute closed-angle glaucoma", + "output": "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening futher optic nerve damage and visual field loss. acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow." + }, + { + "input": "trochlear nerve disease", + "output": "Fourth [trochlear] nerve palsy" + }, + { + "input": "facial neuralgia", + "output": "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. disorders of the trigeminal and facial nerves are frequently associated with these conditions." + }, + { + "input": "multiple cranial nerve palsy", + "output": "Disorders of multiple cranial nerves" + }, + { + "input": "focal labyrinthitis", + "output": "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. this is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma." + }, + { + "input": "hypoactive sexual desire disorder", + "output": "Hypoactive sexual desire disorder" + }, + { + "input": "hypolipoproteinemia", + "output": "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood." + }, + { + "input": "tangier disease", + "output": "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the abca1 gene on chromosome 9q31." + }, + { + "input": "sick sinus syndrome", + "output": "Sick sinus syndrome" + }, + { + "input": "polyneuropathy", + "output": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain." + }, + { + "input": "bird fancier's lung", + "output": "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. the disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen." + }, + { + "input": "squamous cell papilloma", + "output": "A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva." + }, + { + "input": "hypobetalipoproteinemia", + "output": "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein b and ldl cholesterol resulting from an impaired ability to absorb and transport fats." + }, + { + "input": "white piedra", + "output": "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by trichosporon beigelii. infected hairs develop soft greyish-white nodules along the shaft." + }, + { + "input": "red-green color blindness", + "output": "Difficulty with discriminating red and green hues. [ddd:gblack]" + }, + { + "input": "norum disease", + "output": "Lipoprotein deficiency" + }, + { + "input": "achromatopsia", + "output": "A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "acquired color blindness", + "output": "Acquired color vision deficiency" + }, + { + "input": "somatization disorder", + "output": "A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin." + }, + { + "input": "irregular astigmatism", + "output": "Irregular astigmatism" + }, + { + "input": "pseudopapilledema", + "output": "Apparent optic disc swelling in the absence of increased intracranial pressure. [hpo:probinson]" + }, + { + "input": "bacterial esophagitis", + "output": "An acute bacterial infection that affects the esophagus. symptoms include severe pain on swallowing and retrosternal pain. endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations." + }, + { + "input": "eosinophilic esophagitis", + "output": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus." + }, + { + "input": "necrotizing ulcerative gingivitis", + "output": "Other vincent's infections" + }, + { + "input": "lacrimal duct obstruction", + "output": "Interference with the secretion of tears by the lacrimal glands. obstruction of the lacrimal sac or nasolacrimal duct causing acute or chronic inflammation of the lacrimal sac (dacryocystitis). it is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. in adults occlusion may occur spontaneously or after injury or nasal disease. (newell, ophthalmology: principles and concepts, 7th ed, p250)" + }, + { + "input": "visual pathway disease", + "output": "An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image." + }, + { + "input": "facial paralysis", + "output": "Bell's palsy" + }, + { + "input": "amenorrhea", + "output": "A female reproductive system disease that is characterized by the absence of menstruation." + }, + { + "input": "urinary schistosomiasis", + "output": "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer." + }, + { + "input": "benign paroxysmal positional vertigo", + "output": "A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing." + }, + { + "input": "cadasil", + "output": "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment." + }, + { + "input": "bladder neck obstruction", + "output": "Bladder-neck obstruction" + }, + { + "input": "interstitial cystitis", + "output": "A condition with recurring discomfort or pain in the urinary bladder and the surrounding pelvic region without an identifiable disease. severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." + }, + { + "input": "schistosomiasis", + "output": "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." + }, + { + "input": "uterine corpus epithelioid leiomyoma", + "output": "An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures." + }, + { + "input": "uterine corpus dissecting leiomyoma", + "output": "A uterine fibroid that is characterized by the presence of intramural tearing." + }, + { + "input": "uterus interstitial leiomyoma", + "output": "An uterine fibroid that is located within the myometrium." + }, + { + "input": "uterine corpus myxoid leiomyoma", + "output": "An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity." + }, + { + "input": "uterine corpus lipoleiomyoma", + "output": "An uterine fibroid that is characterized by the presence of adipocytes." + }, + { + "input": "uterine corpus bizarre leiomyoma", + "output": "An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells." + }, + { + "input": "nuclear senile cataract", + "output": "A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging." + }, + { + "input": "morgagni cataract", + "output": "A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. it is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging." + }, + { + "input": "chronic orbital inflammation", + "output": "Chronic inflammatory disorders of orbit" + }, + { + "input": "female breast lower-outer quadrant cancer", + "output": "A female breast cancer that is located_in the lower-outer qudrant of the breast." + }, + { + "input": "peptic esophagitis", + "output": "Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum." + }, + { + "input": "parasitic infectious disease", + "output": "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host." + }, + { + "input": "cleidocranial dysplasia", + "output": "An osteochondrodysplasia that has_material_basis_in mutations in the runx2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull." + }, + { + "input": "small intestine lymphoma", + "output": "A non-hodgkin or hodgkin lymphoma that arises from the small intestine." + }, + { + "input": "contact blepharoconjunctivitis", + "output": "Contact blepharoconjunctivitis" + }, + { + "input": "lacrimal apparatus disease", + "output": "An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye." + }, + { + "input": "rubeosis iridis", + "output": "Other vascular disorders of iris and ciliary body" + }, + { + "input": "thoracic aortic aneurysm", + "output": "An aortic aneurysm that is located_in the thoracic aorta." + }, + { + "input": "alcoholic liver cirrhosis", + "output": "Alcoholic cirrhosis of liver" + }, + { + "input": "brucella canis brucellosis", + "output": "A brucellosis involving an infection caused by brucella canis [ncbitaxon:36855] in dogs and humans. the disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly." + }, + { + "input": "tietze's syndrome", + "output": "Chondrocostal junction syndrome [tietze]" + }, + { + "input": "algoneurodystrophy", + "output": "Algoneurodystrophy" + }, + { + "input": "folic acid deficiency anemia", + "output": "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines." + }, + { + "input": "aorta atresia", + "output": "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta." + }, + { + "input": "poems syndrome", + "output": "A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation." + }, + { + "input": "residual stage angle-closure glaucoma", + "output": "Residual stage of angle-closure glaucoma" + }, + { + "input": "autoimmune polyendocrine syndrome", + "output": "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs." + }, + { + "input": "bipolar i disorder", + "output": "A bipolar disorder that is characterized by at least one manic or mixed episode." + }, + { + "input": "neonatal myasthenia gravis", + "output": "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. this condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. in the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (from menkes, textbook of child neurology, 5th ed, p823; neurology 1997 jan;48(1):50-4)" + }, + { + "input": "phaeohyphomycosis", + "output": "A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in exophiala dermatitidis, has_material_basis_in phialophora, has_material_basis_in curvularia hawaiiensis, has_material_basis_in exserohilum, has_material_basis_in cladophialophora bantiana, has_material_basis_in phaeoannellomyces, has_material_basis_in aureobasidium, has_material_basis_in cladosporium cladosporoides, has_material_basis_in alternaria or has_material_basis_in rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals." + }, + { + "input": "primary angle-closure glaucoma", + "output": "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. primary angle-closure glaucoma has a strong genetic component." + }, + { + "input": "paraurethral gland cancer", + "output": "A female reproductive organ cancer that is located_in the paraurethral glands." + }, + { + "input": "iritis", + "output": "Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." + }, + { + "input": "acute poststreptococcal glomerulonephritis", + "output": "Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group a beta hemolytic streptococcus." + }, + { + "input": "acute diffuse nephritis", + "output": "An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure." + }, + { + "input": "plasmodium falciparum malaria", + "output": "A malaria described as a severe form of the disease caused by a parasite plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever." + }, + { + "input": "blackwater fever", + "output": "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with plasmodium falciparum or plasmodium vivax." + }, + { + "input": "cerebral malaria", + "output": "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by plasmodium species." + }, + { + "input": "anterior uveitis", + "output": "Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). intraocular pressure may be increased or reduced." + }, + { + "input": "vestibular nystagmus", + "output": "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. [hpo:curators]" + }, + { + "input": "geniculate ganglionitis", + "output": "Geniculate ganglionitis" + }, + { + "input": "glucocorticoid-remediable aldosteronism", + "output": "A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the cyp11b2 and cyp11b1 genes on chromosome 8q24.3." + }, + { + "input": "toxic labyrinthitis", + "output": "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." + }, + { + "input": "epicondylitis", + "output": "A bone inflammation disease that results_in inflammation located_in epicondyle." + }, + { + "input": "root caries", + "output": "Dental caries involving the tooth root, cementum, or cervical area of the tooth." + }, + { + "input": "renal artery atheroma", + "output": "Atherosclerosis of renal artery" + }, + { + "input": "boutonneuse fever", + "output": "A spotted fever that has_material_basis_in rickettsia conorii subsp conorii, which is transmitted_by dog tick (rhipicephalus sanguineus). the infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities." + }, + { + "input": "de quervain disease", + "output": "Radial styloid tenosynovitis [de quervain]" + }, + { + "input": "anus cancer", + "output": "A large intestine cancer that is located_in the anus." + }, + { + "input": "median rhomboid glossitis", + "output": "Median rhomboid glossitis" + }, + { + "input": "toxic shock syndrome", + "output": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in streptococcus pyogenes or has_material_basis_in staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. the infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities." + }, + { + "input": "multiple symmetric lipomatosis", + "output": "A condition characterized by the growth of unencapsulated masses of adipose tissue symmetrically deposited around the neck, shoulders, or other sites around the body." + }, + { + "input": "familial lipoprotein lipase deficiency", + "output": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides." + }, + { + "input": "bacteriuria", + "output": "A urinary system disease which consists of the presence of bacteria in urine." + }, + { + "input": "blue toe syndrome", + "output": "A condition that is caused by recurring atheroembolism in the lower extremities. it is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. discoloration may extend to the lateral aspect of the foot. despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation." + }, + { + "input": "lateral cystocele", + "output": "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls." + }, + { + "input": "midline cystocele", + "output": "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall." + }, + { + "input": "masters-allen syndrome", + "output": "A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery." + }, + { + "input": "anus lymphoma", + "output": "A usually large cell non-hodgkin lymphoma of b-cell phenotype, arising from the anus. lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in hiv-positive patients, particularly homosexual men." + }, + { + "input": "ovarian dysfunction", + "output": "An ovarian disease that is characterized by irregular or absent ovulation." + }, + { + "input": "malignant anus melanoma", + "output": "A melanoma arising from the anus. clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. the prognosis is usually poor." + }, + { + "input": "ureterolithiasis", + "output": "An ureteral disease this is characterized by the formation of stoney concentrations in the ureter." + }, + { + "input": "gyrate atrophy", + "output": "Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood." + }, + { + "input": "spinal cord lymphoma", + "output": "A spinal cancer that is located_in the spinal cord and derives_from lymphocytes." + }, + { + "input": "spinal cord sarcoma", + "output": "A sarcoma that arises from the spinal cord." + }, + { + "input": "obstructive hydrocephalus", + "output": "Obstructive hydrocephalus" + }, + { + "input": "choroid disease", + "output": "An uveal disease that is located_in the choroid." + }, + { + "input": "rheumatic congestive heart failure", + "output": "Rheumatic heart failure" + }, + { + "input": "central neurocytoma", + "output": "An intraventricular neuronal neoplasm composed of uniform round cells with neuronal differentiation. it is typically located in the lateral ventricles in the region of the foramen of monro. it generally affects young adults and has a favorable prognosis. (adapted from who)" + }, + { + "input": "von hippel-lindau disease", + "output": "Von hippel-lindau syndrome" + }, + { + "input": "selective igg deficiency disease", + "output": "A dysgammaglobulinemia that is characterized by isolated deficiency of an igg subclass, normal total igg levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions." + }, + { + "input": "x-linked agammaglobulinemia", + "output": "An agammaglobulinemia that is that has_material_basis_in a mutation in the bruton's tyrosine kinase (btk) gene on the x chromosome resulting in x-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature b lymphocytes, and associated with a failure of ig heavy chain rearrangement." + }, + { + "input": "calcific tendinitis", + "output": "Calcific tendinitis of shoulder" + }, + { + "input": "alcoholic neuropathy", + "output": "Alcoholic polyneuropathy" + }, + { + "input": "polyneuropathy due to drug", + "output": "Drug-induced polyneuropathy" + }, + { + "input": "frozen shoulder", + "output": "A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion." + }, + { + "input": "posterior dislocation of lens", + "output": "Posterior dislocation of lens" + }, + { + "input": "childhood type dermatomyositis", + "output": "Juvenile dermatomyositis" + }, + { + "input": "hypophosphatasia", + "output": "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the alpl gene on chromosome 1p36.12." + }, + { + "input": "dihydropyrimidine dehydrogenase deficiency", + "output": "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine." + }, + { + "input": "renal tubular acidosis", + "output": "A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine." + }, + { + "input": "abdominal obesity-metabolic syndrome 1", + "output": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events." + }, + { + "input": "ochronosis", + "output": "A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions." + }, + { + "input": "tracheal calcification", + "output": "Abnormal deposits of calcium in the tracheal tissue." + }, + { + "input": "acute frontal sinusitis", + "output": "A frontal sinusitis which lasts for less than 4 weeks." + }, + { + "input": "azoospermia", + "output": "A male infertility disease characterized by the absence of any measurable level of sperm in semen." + }, + { + "input": "oligospermia", + "output": "A male fertility issue defined as a low sperm concentration in the ejaculate." + }, + { + "input": "scleromalacia perforans", + "output": "A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. the choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis." + }, + { + "input": "orbital cyst", + "output": "Cyst of orbit" + }, + { + "input": "gastrointestinal tularemia", + "output": "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. the infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting." + }, + { + "input": "chronic perichondritis of pinna", + "output": "A perichondritis of auricle which is persistent and long-lasting." + }, + { + "input": "epiphora due to excess lacrimation", + "output": "Epiphora due to excess lacrimation" + }, + { + "input": "cystoid macular retinal degeneration", + "output": "Cystoid macular degeneration" + }, + { + "input": "chronic purulent otitis media", + "output": "A suppurative otitis media which is persistent and long-lasting." + }, + { + "input": "chronic atticoantral disease", + "output": "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. this is caused as a result of poor ventilation of the middle ear and episodes of infection." + }, + { + "input": "pyoureter", + "output": "An abscess that is located in the ureter." + }, + { + "input": "down syndrome", + "output": "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability." + }, + { + "input": "vitreoretinal dystrophy", + "output": "Vitreoretinal dystrophy" + }, + { + "input": "dystrophies primarily involving the retinal pigment epithelium", + "output": "Dystrophies primarily involving the retinal pigment epithelium" + }, + { + "input": "adult-onset still's disease", + "output": "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain." + }, + { + "input": "ureteral disease", + "output": "A urinary system disease that is located_in the ureter." + }, + { + "input": "fragile x syndrome", + "output": "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in x-linked inheritance and a loss of fmr1 function." + }, + { + "input": "oral candidiasis", + "output": "A candidiasis that involves fungal infection of the mucous membrane of the mouth by candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes." + }, + { + "input": "benign neonatal seizures", + "output": "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion." + }, + { + "input": "pulmonary valve insufficiency", + "output": "A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. if it is secondary to pulmonary hypertension it is referred to as a graham steell murmur." + }, + { + "input": "sclerosing cholangitis", + "output": "Other cholangitis" + }, + { + "input": "suppurative cholangitis", + "output": "Other cholangitis" + }, + { + "input": "ascending cholangitis", + "output": "Other cholangitis" + }, + { + "input": "acute cholangitis", + "output": "Cholangitis that is both sudden in onset and of a relatively short duration." + }, + { + "input": "pericholangitis", + "output": "Inflammation of the tissue surrounding the biliary ducts." + }, + { + "input": "atrophic vulva", + "output": "A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization." + }, + { + "input": "shoulder impingement syndrome", + "output": "Impingement syndrome of shoulder" + }, + { + "input": "endocrine pancreas disease", + "output": "A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of langerhans) that create and release important hormones directly into the bloodstream." + }, + { + "input": "primary hypertrophic osteoarthropathy", + "output": "Other hypertrophic osteoarthropathy" + }, + { + "input": "patellofemoral pain syndrome", + "output": "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. the pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. there is a lack of consensus on the etiology and treatment. the syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." + }, + { + "input": "neurogenic arthropathy", + "output": "Charc\u00f4t's joint" + }, + { + "input": "brawny scleritis", + "output": "An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection." + }, + { + "input": "ebstein anomaly", + "output": "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." + }, + { + "input": "noonan syndrome with multiple lentigines", + "output": "A rasopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature." + }, + { + "input": "vulvar dystrophy", + "output": "A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching." + }, + { + "input": "tuberculous empyema", + "output": "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. it results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula." + }, + { + "input": "skin epithelioid hemangioma", + "output": "Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells." + }, + { + "input": "pleuropneumonia", + "output": "A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria." + }, + { + "input": "blindness", + "output": "An eye disease characterized by a lack or loss of vision." + }, + { + "input": "generalized anxiety disorder", + "output": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation." + }, + { + "input": "marfan syndrome", + "output": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens." + }, + { + "input": "plasmodium malariae malaria", + "output": "A malaria caused by a parasite plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals." + }, + { + "input": "mixed malaria", + "output": "A malaria that involves infection with more than one species of plasmodium at the same time." + }, + { + "input": "parkinson's disease", + "output": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." + }, + { + "input": "postencephalitic parkinson disease", + "output": "Postencephalitic parkinsonism" + }, + { + "input": "estrogen excess", + "output": "An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen." + }, + { + "input": "suppurative thyroiditis", + "output": "Acute thyroiditis" + }, + { + "input": "riedel's fibrosing thyroiditis", + "output": "Other chronic thyroiditis" + }, + { + "input": "acute thyroiditis", + "output": "Acute thyroiditis" + }, + { + "input": "corneal ectasia", + "output": "Corneal ectasia" + }, + { + "input": "systemic primary carnitine deficiency disease", + "output": "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy." + }, + { + "input": "norwegian scabies", + "output": "A scabies that involves infestation of human itch mite sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching." + }, + { + "input": "parietal lobe neoplasm", + "output": "A cerebrum cancer that is located_in the parietal lobe." + }, + { + "input": "pyuria", + "output": "Pyuria" + }, + { + "input": "thrombophlebitis migrans", + "output": "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations." + }, + { + "input": "protozoal dysentery", + "output": "A dysentery that involves protozoan infection." + }, + { + "input": "machado-joseph disease", + "output": "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of cag triplet repeats (glutamine) in the atxn3 gene." + }, + { + "input": "capillary leak syndrome", + "output": "A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues." + }, + { + "input": "critical illness polyneuropathy", + "output": "Critical illness polyneuropathy" + }, + { + "input": "autosomal dominant cerebellar ataxia", + "output": "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance." + }, + { + "input": "legg-calve-perthes disease", + "output": "An osteochondrosis that results_in death and fracture located_in hip joint." + }, + { + "input": "dracunculiasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. the female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. the worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection." + }, + { + "input": "dipetalonemiasis", + "output": "A filariasis that is a zoonotic infection caused by the nematode of the genus dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. the adult worms live subcutaneously or in body cavities or in the eyes of humans. dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis." + }, + { + "input": "glossopharyngeal neuralgia", + "output": "Disorders of glossopharyngeal nerve" + }, + { + "input": "cerebral degeneration", + "output": "A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue." + }, + { + "input": "chronic tubotympanic suppurative otitis media", + "output": "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. it is caused by episodes of upper respiratory infections." + }, + { + "input": "cholinergic urticaria", + "output": "A physical urticaria induced by sweating." + }, + { + "input": "sclerosing keratitis", + "output": "A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection." + }, + { + "input": "chronic closed-angle glaucoma", + "output": "A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. primary angle-closure glaucoma has a strong genetic component." + }, + { + "input": "gonadal dysgenesis", + "output": "A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo." + }, + { + "input": "46,xy sex reversal", + "output": "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." + }, + { + "input": "mixed gonadal dysgenesis", + "output": "A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis." + }, + { + "input": "46 xx gonadal dysgenesis", + "output": "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,xx female." + }, + { + "input": "hyperkalemic periodic paralysis", + "output": "Periodic paralysis" + }, + { + "input": "hypokalemic periodic paralysis", + "output": "Periodic paralysis" + }, + { + "input": "farmer's lung", + "output": "An extrinsic allergic alveolitis which is induced by the inhalation of spores (aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. it is characterized by sudden onset, fever, cough, expectoration, and breathlessness." + }, + { + "input": "brucella melitensis brucellosis", + "output": "A brucellosis that involves an infection caused by brucella melitensis [ncbitaxon:29459] in cattle, goats, sheep and humans. the disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain." + }, + { + "input": "brucella abortus brucellosis", + "output": "A brucellosis that involves an infection caused by brucella abortus [ncbitaxon:235] in cattle and humans. the disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia." + }, + { + "input": "hemangioma of orbit", + "output": "A hemangioma arising from the orbit." + }, + { + "input": "cavernous hemangioma of orbit", + "output": "A cavernous hemangioma arising from the orbit." + }, + { + "input": "neuroleptic malignant syndrome", + "output": "A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers." + }, + { + "input": "hantavirus pulmonary syndrome", + "output": "A viral infectious disease that results in infection located in lung, has_material_basis_in orthohantavirus sinnombreense, transmitted by deer mouse (myodes glareolus), has_material_basis_in orthohantavirus nigrorivense, transmitted by cotton rat (sigmodon hispidus), has_material_basis_in orthohantavirus bayoui, transmitted by marsh rice rat (oryzomys palustris), has_material_basis_in orthohantavirus negraense, transmitted by small vesper mouse (calomys laucha), or has_material_basis_in orthohantavirus andesense, transmitted by rice rat (oligoryzomys longicaudatus). the infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications." + }, + { + "input": "pemphigoid gestationis", + "output": "A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis." + }, + { + "input": "chorea gravidarum", + "output": "A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (from md med j 1997 sep;46(8):436-9)" + }, + { + "input": "sporotrichosis", + "output": "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation." + }, + { + "input": "ureteral lymphoma", + "output": "A lymphoma involving the ureter." + }, + { + "input": "regional ureteric cancer", + "output": "A carcinoma of the ureter that has not spread to other regions." + }, + { + "input": "dumping syndrome", + "output": "Postgastric surgery syndromes" + }, + { + "input": "wolman disease", + "output": "Other lipid storage disorders" + }, + { + "input": "lipoid proteinosis", + "output": "An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of skin; mucosa; and certain viscera. this disorder is caused by mutation in the extracellular matrix protein 1 gene (ecm1). clinical features include hoarseness and skin eruption due to widespread deposition of hyalin." + }, + { + "input": "fabry disease", + "output": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in x-linked inherited mutations in the gla gene, encoding alpha-galactosidase a, on chromosome xq22." + }, + { + "input": "fucosidosis", + "output": "Defects in glycoprotein degradation" + }, + { + "input": "sjogren-larsson syndrome", + "output": "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member a2 (aldh3a2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11." + }, + { + "input": "cholesterol ester storage disease", + "output": "An autosomal recessive disorder caused by mutations in the gene for acid lipase (sterol esterase). it is characterized by the accumulation of neutral lipids, particularly cholesterol esters in leukocytes, fibroblasts, and hepatocytes." + }, + { + "input": "neuronal ceroid lipofuscinosis", + "output": "Neuronal ceroid lipofuscinosis" + }, + { + "input": "niemann-pick disease", + "output": "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells." + }, + { + "input": "peripheral degeneration of cornea", + "output": "Peripheral corneal degeneration" + }, + { + "input": "candidal paronychia", + "output": "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in candida species. the infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury." + }, + { + "input": "wagr syndrome", + "output": "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop wilms tumor, aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. the condition results from a deletion on chromosome 11 resulting in the loss of several genes. as such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes." + }, + { + "input": "partial arterial retinal occlusion", + "output": "Partial retinal artery occlusion" + }, + { + "input": "argyll robertson pupil", + "output": "An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response." + }, + { + "input": "reye syndrome", + "output": "A syndrome characterized by acute brain damage and liver function problems. it has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use." + }, + { + "input": "external pathological resorption", + "output": "Pathological resorption of teeth" + }, + { + "input": "atrophic glossitis", + "output": "Atrophy of tongue papillae" + }, + { + "input": "malignant cardiac peripheral nerve sheath neoplasm", + "output": "A very rare malignant peripheral nerve sheath tumor that arises from the heart." + }, + { + "input": "malignant cardiac germ cell tumor", + "output": "A rare malignant germ cell tumor that arises within the myocardium or cardiac chambers." + }, + { + "input": "rete testis adenocarcinoma", + "output": "A rete testis neoplasm that derives_from epithelial cells of glandular origin." + }, + { + "input": "seminal vesicle adenocarcinoma", + "output": "A male reproductive organ cancer that derives_from epithelial cells of glandular origin." + }, + { + "input": "sphenoidal sinus cancer", + "output": "Malignant neoplasm of sphenoid sinus" + }, + { + "input": "sphenoid sinus squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the sphenoid sinus." + }, + { + "input": "geographic tongue", + "output": "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface." + }, + { + "input": "root resorption", + "output": "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (dorland, 27th ed)" + }, + { + "input": "foster-kennedy syndrome", + "output": "Foster-kennedy syndrome" + }, + { + "input": "primary pulmonary hypertension", + "output": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling." + }, + { + "input": "glossitis", + "output": "Glossitis" + }, + { + "input": "disease of cellular proliferation", + "output": "A disease that is characterized by abnormally rapid cell division." + }, + { + "input": "postsurgical hypothyroidism", + "output": "Postprocedural hypothyroidism" + }, + { + "input": "hypothyroidism", + "output": "A thyroid gland disease which involves an underproduction of thyroid hormone." + }, + { + "input": "papilledema", + "output": "Papilledema" + }, + { + "input": "cholesterol embolism", + "output": "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream." + }, + { + "input": "prostatitis", + "output": "Inflammatory disease of prostate, unspecified" + }, + { + "input": "acrodysostosis", + "output": "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency." + }, + { + "input": "serous labyrinthitis", + "output": "A labyrinthitits in which bacterial toxins invade the inner ear. it is the most common complication of acute or chronic middle ear infections." + }, + { + "input": "hypertelorism, microtia, facial clefting syndrome", + "output": "A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia." + }, + { + "input": "multiple intestinal atresia", + "output": "An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the ttc7a gene on chromosome 2p21." + }, + { + "input": "vacterl association", + "output": "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." + }, + { + "input": "labyrinthitis", + "output": "An otitis interna which involves inflammation of the labyrinths." + }, + { + "input": "silver-russell syndrome", + "output": "A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations." + }, + { + "input": "axenfeld-rieger syndrome", + "output": "An eye disease characterized by abnormalities of the front part of the eye, the anterior segment." + }, + { + "input": "diastrophic dysplasia", + "output": "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the slc26a2 gene which results_in short limb dwarfism." + }, + { + "input": "smith-lemli-opitz syndrome", + "output": "Smith-lemli-opitz syndrome" + }, + { + "input": "clouston syndrome", + "output": "An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the gjb6 gene, which encodes connexin-30, on chromosome 13q12." + }, + { + "input": "johanson-blizzard syndrome", + "output": "A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. it is inherited in an autosomal recessive manner." + }, + { + "input": "galactokinase deficiency", + "output": "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase." + }, + { + "input": "thrombocytopenia-absent radius syndrome", + "output": "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nl) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the rbm8a gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in rbm8a on the other." + }, + { + "input": "major depressive disorder", + "output": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality." + }, + { + "input": "propionic acidemia", + "output": "An organic acidemia that involes a nonfunctional propionyl coa carboxylase affecting conversion of amino acids and fats into sugar for energy." + }, + { + "input": "branchiootorenal syndrome", + "output": "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities." + }, + { + "input": "pfeiffer syndrome", + "output": "An acrocephalosyndactylia that has_material_basis_in mutations in the fgfr1 and fgfr2 gene which results_in premature fusion located_in skull." + }, + { + "input": "fg syndrome", + "output": "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an x-linked recessive inheritance pattern." + }, + { + "input": "centronuclear myopathy", + "output": "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. the nuclei are located in the center of the cell, instead of their normal location at the periphery." + }, + { + "input": "ehlers-danlos syndrome classic type 1", + "output": "An ehlers-danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(v) gene (col5a1) on chromosome 9q34." + }, + { + "input": "beta-ketothiolase deficiency", + "output": "An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the acat1 gene of chromosome 11q22.3 responsible for producing the acat1 enzyme in mitochondria, which processes isoleucine and ketones." + }, + { + "input": "autosomal dominant microcephaly", + "output": "A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene." + }, + { + "input": "weaver syndrome", + "output": "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the ezh2 gene on chromosome 7q36." + }, + { + "input": "hereditary angioedema", + "output": "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes." + }, + { + "input": "craniofrontonasal syndrome", + "output": "A syndrome that has_material_basis_in mutation in the efnb1 gene on chromosome xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton." + }, + { + "input": "aggressive periodontitis", + "output": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium." + }, + { + "input": "trichorhinophalangeal syndrome type i", + "output": "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)." + }, + { + "input": "partington syndrome", + "output": "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria." + }, + { + "input": "sotos syndrome", + "output": "A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life." + }, + { + "input": "methylmalonic acidemia", + "output": "An organic acidemia that involves an accumulation of methylmalonic acid in the blood." + }, + { + "input": "lymphangioma", + "output": "A benign vascular tumor that is composed of dilated lymphatic channels." + }, + { + "input": "isovaleric acidemia", + "output": "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine." + }, + { + "input": "argininosuccinic aciduria", + "output": "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (asa) in the blood and urine." + }, + { + "input": "vascular type ehlers-danlos syndrome", + "output": "An ehlers-danlos syndrome that has_material_basis_in heterozygous mutation in the col3a1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits." + }, + { + "input": "ehlers-danlos syndrome hypermobility type", + "output": "An ehlers-danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity." + }, + { + "input": "autosomal recessive type iv ehlers-danlos syndrome", + "output": "An ehlers-danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits." + }, + { + "input": "greig cephalopolysyndactyly syndrome", + "output": "An acrocephalosyndactylia that has_material_basis_in mutation in the gli3 gene which results_in abnormal development located_in limb, located_in head, located_in face." + }, + { + "input": "calcaneonavicular coalition", + "output": "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet." + }, + { + "input": "larsen syndrome", + "output": "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." + }, + { + "input": "renal agenesis", + "output": "A renal disease that is characterized by the failure of one or both kidneys to develop." + }, + { + "input": "saethre-chotzen syndrome", + "output": "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the twist1 gene which results_in premature fusion located_in skull." + }, + { + "input": "cartilage-hair hypoplasia", + "output": "An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the rmrp gene on chromosome 9p13.3." + }, + { + "input": "brittle cornea syndrome 1", + "output": "An ehlers-danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the znf469 gene on chromosome 16q24." + }, + { + "input": "blepharophimosis, ptosis, and epicanthus inversus syndrome", + "output": "A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type i) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the foxl2 gene on chromosome 3q22.3." + }, + { + "input": "kbg syndrome", + "output": "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton." + }, + { + "input": "olivopontocerebellar atrophy", + "output": "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." + }, + { + "input": "spondyloepiphyseal dysplasia congenita", + "output": "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the col2a1 gene on chromosome 12q13.11." + }, + { + "input": "leber congenital amaurosis", + "output": "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness." + }, + { + "input": "hypohidrotic ectodermal dysplasia", + "output": "An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth)." + }, + { + "input": "dubowitz syndrome", + "output": "A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids." + }, + { + "input": "blount's disease", + "output": "An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally." + }, + { + "input": "gingival disease", + "output": "A periodontal disease that is located_in the gums." + }, + { + "input": "cystic fibrosis", + "output": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs." + }, + { + "input": "cystic echinococcosis", + "output": "An echinococcosis that is caused by the larvae of echinococcus granulosus. hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. pulmonary involvement can produce chest pain, cough, and hemoptysis. rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. brain, bone, heart can also be infected." + }, + { + "input": "echinococcosis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus echinococcus in the liver, lungs, spleen, brain, heart and kidneys." + }, + { + "input": "cholera", + "output": "A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock." + }, + { + "input": "reproductive system disease", + "output": "A disease of anatomical entity that is located_in reproductive system organs." + }, + { + "input": "disease of mental health", + "output": "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." + }, + { + "input": "candidiasis", + "output": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by candida species, of which candida albicans is the most common. systemic candida infections are usually confined to severely immunocompromised persons." + }, + { + "input": "avoidant personality disorder", + "output": "A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction." + }, + { + "input": "personality disorder", + "output": "A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work." + }, + { + "input": "chronic gonorrhea of cervix", + "output": "A chronic cervicitis that is caused by gonorrhea." + }, + { + "input": "chronic cervicitis", + "output": "A cervicitis that is present for weeks or more." + }, + { + "input": "cecal benign neoplasm", + "output": "An intestinal benign neoplasm that is located_in the cecum." + }, + { + "input": "cecal disease", + "output": "An intestinal disease located_in the cecum." + }, + { + "input": "cecum carcinoma", + "output": "A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "colon carcinoma", + "output": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "cecum cancer", + "output": "A large intestine cancer that is located_in the cecum." + }, + { + "input": "cecum lymphoma", + "output": "An extranodal lymphoma that arises from the cecum. the majority are b-cell non-hodgkin lymphomas." + }, + { + "input": "colon lymphoma", + "output": "An extranodal lymphoma that arises from the colon. the majority are b-cell non-hodgkin lymphomas." + }, + { + "input": "nodular nonsuppurative panniculitis", + "output": "Relapsing panniculitis [weber-christian]" + }, + { + "input": "panniculitis", + "output": "A skin disease that is characterized by inflammation of subcutaneous adipose tissue." + }, + { + "input": "penile disease", + "output": "Other specified disorders of penis" + }, + { + "input": "pleural disease", + "output": "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. the main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism." + }, + { + "input": "mixed cell type cancer", + "output": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue." + }, + { + "input": "parathyroid carcinoma", + "output": "An endocrine gland cancer located_in the parathyroid glands located in the neck." + }, + { + "input": "head and neck carcinoma", + "output": "A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx." + }, + { + "input": "vibratory urticaria", + "output": "A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the adgre2 gene on chromosome 19p13." + }, + { + "input": "urticaria", + "output": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis." + }, + { + "input": "arthus reaction", + "output": "A hypersensitivity reaction type iii disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls." + }, + { + "input": "hypersensitivity reaction type iii disease", + "output": "A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury." + }, + { + "input": "angioedema", + "output": "A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues." + }, + { + "input": "cognitive disorder", + "output": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving." + }, + { + "input": "chromoblastomycosis", + "output": "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by fonsecaea pedrosoi, fonsecaea compacta, cladophialophora carrionii or phialophora verrucosa. histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection." + }, + { + "input": "dermatomycosis", + "output": "A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in ascomycota fungi other than the dermatophytes." + }, + { + "input": "fungal infectious disease", + "output": "A disease by infectious agent that results_in infection, has_material_basis_in fungi, which pass the resistance barriers of the human or animal body." + }, + { + "input": "ectropion", + "output": "Ectropion of eyelid" + }, + { + "input": "normal pressure hydrocephalus", + "output": "(idiopathic) normal pressure hydrocephalus" + }, + { + "input": "communicating hydrocephalus", + "output": "Communicating hydrocephalus" + }, + { + "input": "alcohol use disorder", + "output": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." + }, + { + "input": "rheumatic disease", + "output": "A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue." + }, + { + "input": "limited scleroderma", + "output": "The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. the crest syndrome is a form of limited scleroderma." + }, + { + "input": "pulmonary systemic sclerosis", + "output": "Systemic sclerosis with lung involvement" + }, + { + "input": "respiratory system disease", + "output": "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm." + }, + { + "input": "diffuse scleroderma", + "output": "A variant of systemic scleroderma characterized by sclerosis of the skin, raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement." + }, + { + "input": "laryngeal tuberculosis", + "output": "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia." + }, + { + "input": "acute chest syndrome", + "output": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. the crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. the disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph." + }, + { + "input": "rheumatic fever", + "output": "A connective tissue disease that develops from an antecedent group a streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged pr interval, and/or has_symptom fever." + }, + { + "input": "thrombocytopenia due to platelet alloimmunization", + "output": "A general class of thrombocytopenia due to immune destruction of platelets. it includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., aids, transfusion, lupus erythematosus)." + }, + { + "input": "thrombocytopenia", + "output": "A blood platelet disease that is characterized by low a platelet count in the blood." + }, + { + "input": "renovascular hypertension", + "output": "Renovascular hypertension" + }, + { + "input": "melancholic depression", + "output": "A major depressive disorder characterized by near-complete absence of pleasure." + }, + { + "input": "depressive disorder", + "output": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function." + }, + { + "input": "integumentary system disease", + "output": "A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages." + }, + { + "input": "lymphadenitis", + "output": "A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes." + }, + { + "input": "hypoglycemic coma", + "output": "A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma." + }, + { + "input": "keratosis", + "output": "A skin disease characterized_by growth of keratin on the skin or mucous membranes." + }, + { + "input": "breast cancer", + "output": "A thoracic cancer that originates in the mammary gland." + }, + { + "input": "male breast cancer", + "output": "A breast cancer that occurs in males." + }, + { + "input": "benign eccrine breast spiradenoma", + "output": "A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for p63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for ck7 and cd117 (c-kit)." + }, + { + "input": "breast fibroadenoma", + "output": "A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast." + }, + { + "input": "cancer", + "output": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis." + }, + { + "input": "breast leiomyoma", + "output": "A breast benign neoplasm that has_material_basis_in smooth muscle cells." + }, + { + "input": "breast adenoma", + "output": "A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures." + }, + { + "input": "breast duct papilloma", + "output": "An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue." + }, + { + "input": "intraductal papilloma", + "output": "A small, often impalpable benign papilloma arising in a lactiferous duct and frequently causing bleeding from the nipple. (stedman, 25th ed)" + }, + { + "input": "intraductal papillary breast neoplasm", + "output": "An intraductal breast benign neoplasm that is characterized by fingerlike growth projections." + }, + { + "input": "breast myofibroblastoma", + "output": "A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation." + }, + { + "input": "benign breast phyllodes tumor", + "output": "A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast." + }, + { + "input": "breast angiomatosis", + "output": "A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia." + }, + { + "input": "central nervous system tuberculosis", + "output": "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord." + }, + { + "input": "skeletal tuberculosis", + "output": "An extrapulmonary tuberculosis that results in formation of lesions located in bone." + }, + { + "input": "benign breast adenomyoepithelioma", + "output": "A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells." + }, + { + "input": "breast adenomyoepithelioma", + "output": "A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells." + }, + { + "input": "female breast upper-inner quadrant cancer", + "output": "A female breast cancer that is located_in the upper-inner quadrant of the breast." + }, + { + "input": "female breast lower-inner quadrant cancer", + "output": "A female breast cancer that is located_in the lower-inner quadrant of the breast." + }, + { + "input": "female breast axillary tail cancer", + "output": "A female breast cancer that is located_in the breast tissue extending into the axilla." + }, + { + "input": "ventricular septal defect", + "output": "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles." + }, + { + "input": "supratentorial cancer", + "output": "A brain cancer that is located in the supratentorial region." + }, + { + "input": "melanotic neuroectodermal tumor", + "output": "A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. its source of origin is in dispute, the various theories giving rise to its several names. (dorland, 27th ed)" + }, + { + "input": "malignant pineal area germ cell neoplasm", + "output": "A germ cell tumor that arises in the pineal region. representative examples include teratoma, germinoma, and choriocarcinoma." + }, + { + "input": "pineoblastoma", + "output": "A pineal gland neoplasm located_in the brain." + }, + { + "input": "behcet's syndrome arthropathy", + "output": "Arthropathy resulting from behcet's syndrome." + }, + { + "input": "spontaneous tension pneumothorax", + "output": "A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath." + }, + { + "input": "pneumothorax", + "output": "A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall." + }, + { + "input": "chronic interstitial cystitis", + "output": "A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency." + }, + { + "input": "cystitis", + "output": "A bladder disease that is characterized by inflammation of the bladder." + }, + { + "input": "chronic cystitis", + "output": "Other chronic cystitis" + }, + { + "input": "heart septal defect", + "output": "Congenital malformation of cardiac septum, unspecified" + }, + { + "input": "congenital heart disease", + "output": "Congenital malformation of heart, unspecified" + }, + { + "input": "glaucoma", + "output": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function." + }, + { + "input": "neovascular glaucoma", + "output": "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases." + }, + { + "input": "neuroendocrine tumor", + "output": "An endocrine gland cancer that has_material_basis_in neuroendocrine cells." + }, + { + "input": "ichthyosis", + "output": "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed." + }, + { + "input": "musculoskeletal system disease", + "output": "A disease of anatomical entity that occurs in the muscular and/or skeletal system." + }, + { + "input": "endocrine gland cancer", + "output": "An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system." + }, + { + "input": "x-linked ichthyosis", + "output": "An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in x-linked recessive mutation or deletion of the sts gene on chromosome xp22." + }, + { + "input": "steroid inherited metabolic disorder", + "output": "A lipid metabolism disorder that involves defects in steroid metabolism." + }, + { + "input": "ichthyosis vulgaris", + "output": "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (flg) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface." + }, + { + "input": "richter's syndrome", + "output": "Chronic lymphocytic leukemia of b-cell type" + }, + { + "input": "neuroectodermal tumor", + "output": "Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells." + }, + { + "input": "aortic valve stenosis", + "output": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening." + }, + { + "input": "benign shuddering attacks", + "output": "Benign shuddering attacks" + }, + { + "input": "clear cell acanthoma", + "output": "An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm." + }, + { + "input": "duodenal ulcer", + "output": "Duodenal ulcer" + }, + { + "input": "peritoneum cancer", + "output": "An organ system cancer that is located in the peritoneum." + }, + { + "input": "partial of retinal vein occlusion", + "output": "Venous engorgement" + }, + { + "input": "retinal vein occlusion", + "output": "Blockage of the retinal vein. those at high risk for this condition include patients with hypertension; diabetes mellitus; atherosclerosis; and other cardiovascular diseases." + }, + { + "input": "retinal vascular occlusion", + "output": "Retinal vascular occlusions" + }, + { + "input": "eccrine sweat gland neoplasm", + "output": "A neoplasm involving the eccrine glands." + }, + { + "input": "histoplasmosis", + "output": "A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in histoplasma capsulatum var capsulatum or has_material_basis_in histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains." + }, + { + "input": "cryptosporidiosis", + "output": "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by cryptosporidium species, through contaminated water and food, the symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. immunocompromised persons are at greater risk of developing the infection." + }, + { + "input": "duodenal benign neoplasm", + "output": "Tumors or cancer of the duodenum." + }, + { + "input": "small intestine leiomyoma", + "output": "A small intestine benign neoplasm that is located_in the small intestine." + }, + { + "input": "acanthoma", + "output": "A neoplasm composed of squamous or epidermal cells." + }, + { + "input": "conjunctival squamous cell carcinoma", + "output": "A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane." + }, + { + "input": "squamous cell carcinoma", + "output": "A carcinoma that derives_from squamous epithelial cells." + }, + { + "input": "vascular cancer", + "output": "A cardiovascular cancer that is located_in blood vessels." + }, + { + "input": "malignant conjunctival melanoma", + "output": "A malignant melanoma within the conjunctiva of the eye." + }, + { + "input": "ocular melanoma", + "output": "An ocular cancer that has_material_basis_in melanocytes and is located_in the eye." + }, + { + "input": "mitral valve stenosis", + "output": "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart." + }, + { + "input": "facial nerve disease", + "output": "A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve." + }, + { + "input": "facial hemiatrophy", + "output": "A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. the condition typically progresses over a period of 2-10 years and then stabilizes." + }, + { + "input": "american histoplasmosis", + "output": "A histoplasmosis that results in systemic fungal infection, has_material_basis_in histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains." + }, + { + "input": "cardiovascular cancer", + "output": "An organ system cancer that located_in the heart and blood vessels." + }, + { + "input": "melkersson-rosenthal syndrome", + "output": "Melkersson's syndrome" + }, + { + "input": "cheilitis", + "output": "A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa." + }, + { + "input": "factitious disorder", + "output": "A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness." + }, + { + "input": "conversion disorder", + "output": "A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause." + }, + { + "input": "toxic megacolon", + "output": "Toxic megacolon" + }, + { + "input": "vascular disease", + "output": "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart." + }, + { + "input": "thyroid cancer", + "output": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." + }, + { + "input": "pituitary cancer", + "output": "An endocrine gland cancer located_in the pituitary gland located at the base of the brain." + }, + { + "input": "adrenal rest tumor", + "output": "Neoplasm derived from displaced cells (rest cells) of the primordial adrenal glands, generally in patients with congenital adrenal hyperplasia. adrenal rest tumors have been identified in testes; liver; and other tissues. they are dependent on adrenocorticotropin for growth and adrenal steroid secretion." + }, + { + "input": "pericarditis", + "output": "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain." + }, + { + "input": "peritoneal mesothelioma", + "output": "A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum." + }, + { + "input": "benign peritoneal mesothelioma", + "output": "A benign or malignant mesothelial neoplasm that arises from the peritoneum." + }, + { + "input": "malignant mesothelioma", + "output": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs." + }, + { + "input": "peritoneal carcinoma", + "output": "A peritoneum cancer that is located_in the inside of the abdomen." + }, + { + "input": "pancreas lymphoma", + "output": "A lymphoma that arises from the pancreas with the bulk of the tumor localized to this organ. the vast majority of cases are non-hodgkin lymphomas of b-cell phenotype and include mucosa-associated lymphoid tissue lymphomas, follicular lymphomas, and diffuse large b-cell lymphomas." + }, + { + "input": "pancreatic cancer", + "output": "An endocrine gland cancer located_in the pancreas." + }, + { + "input": "malignant exocrine pancreas neoplasm", + "output": "A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue." + }, + { + "input": "pancreas sarcoma", + "output": "A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin." + }, + { + "input": "pancreatic endocrine carcinoma", + "output": "An islet cell tumor that has_material_basis_in epithelial cells." + }, + { + "input": "islet cell tumor", + "output": "A pancreatic cancer that is located_in the pancreatic islet cells." + }, + { + "input": "urinary system disease", + "output": "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra." + }, + { + "input": "ossifying fibroma", + "output": "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma." + }, + { + "input": "neuroendocrine carcinoma", + "output": "A carcinoma that derives_from neuroendocrine cells." + }, + { + "input": "neuritis", + "output": "A general term indicating inflammation of a peripheral or cranial nerve. clinical manifestation may include pain; paresthesias; paresis; or hypesthesia." + }, + { + "input": "reflex sympathetic dystrophy", + "output": "Complex regional pain syndrome i (crps i)" + }, + { + "input": "calcinosis", + "output": "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue." + }, + { + "input": "secondary lacrimal atrophy", + "output": "Secondary lacrimal gland atrophy" + }, + { + "input": "status epilepticus", + "output": "A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. the most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also epilepsia partialis continua). subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (from n engl j med 1998 apr 2;338(14):970-6; neurologia 1997 dec;12 suppl 6:25-30)" + }, + { + "input": "childhood absence epilepsy", + "output": "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years." + }, + { + "input": "epilepsy", + "output": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." + }, + { + "input": "idiopathic generalized epilepsy", + "output": "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain." + }, + { + "input": "mononeuritis multiplex", + "output": "Mononeuritis multiplex" + }, + { + "input": "diabetic ketoacidosis", + "output": "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus." + }, + { + "input": "menkes disease", + "output": "An inherited disorder of copper metabolism transmitted as an x-linked trait and characterized by the infantile onset of hypothermia, feeding difficulties, hypotonia, seizures, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including protein-lysine 6-oxidase; ceruloplasmin; and superoxide dismutase. pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (from menkes, textbook of child neurology, 5th ed, p125)" + }, + { + "input": "bone cancer", + "output": "A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue." + }, + { + "input": "cannabis dependence", + "output": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." + }, + { + "input": "intrahepatic cholestasis", + "output": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver." + }, + { + "input": "cherubism", + "output": "A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the sh3bp2 gene on chromosome 4p16.3." + }, + { + "input": "mccune albright syndrome", + "output": "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and caf\u00e9-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at arg201 or gln227 of the gnas gene during embryogenesis." + }, + { + "input": "jaw cancer", + "output": "A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone." + }, + { + "input": "skull cancer", + "output": "Neoplasms of the bony part of the skull." + }, + { + "input": "giant cell reparative granuloma", + "output": "Giant cell granuloma, central" + }, + { + "input": "chronic rheumatic pericarditis", + "output": "Chronic rheumatic pericarditis" + }, + { + "input": "impotence", + "output": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity." + }, + { + "input": "sexual dysfunction", + "output": "A male reproductive system disease that is characterized by disturbances in sexual desire or performance." + }, + { + "input": "atrial heart septal defect", + "output": "A heart septal defect located_in in the septum that separates the two atria of the heart." + }, + { + "input": "hepatitis c", + "output": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. the infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice." + }, + { + "input": "viral hepatitis", + "output": "A hepatitis that involves viral infection causing inflammation of the liver." + }, + { + "input": "optic nerve disease", + "output": "A cranial nerve disease that is located_in the optic nerve." + }, + { + "input": "eczematous dermatitis of eyelid", + "output": "Eczematous dermatitis of eyelid" + }, + { + "input": "noninfectious dermatoses of eyelid", + "output": "Noninfectious dermatoses of eyelid" + }, + { + "input": "allergic contact dermatitis of eyelid", + "output": "A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type iv hypersenstivity reaction to an allergen or irritant." + }, + { + "input": "sigmoid neoplasm", + "output": "Tumors or cancer of the sigmoid colon." + }, + { + "input": "sigmoid disease", + "output": "Pathological processes in the sigmoid colon region of the large intestine (intestine, large)." + }, + { + "input": "vagina sarcoma", + "output": "A vaginal cancer that has_material_basis_in connective tissue." + }, + { + "input": "malignant skin fibrous histiocytoma", + "output": "An undifferentiated pleomorphic sarcoma arising from the skin. it is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm." + }, + { + "input": "malignant fibrous histiocytoma", + "output": "A soft tissue sarcoma that usually occurs in the limbs, most commonly the legs, and may also occur in the abdomen." + }, + { + "input": "melanoma", + "output": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye." + }, + { + "input": "vaginal yolk sac tumor", + "output": "A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac." + }, + { + "input": "endodermal sinus tumor", + "output": "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo." + }, + { + "input": "lesch-nyhan syndrome", + "output": "A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (hprt) gene on chromosome xq26." + }, + { + "input": "sex cord-gonadal stromal tumor", + "output": "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, leydig cells, sertoli cells, and fibroblasts." + }, + { + "input": "hyperuricemia", + "output": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood." + }, + { + "input": "klinefelter syndrome", + "output": "A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra x chromosome in cells in men." + }, + { + "input": "disorder of sexual development", + "output": "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex." + }, + { + "input": "hypogonadism", + "output": "A gonadal disease that is characterized by diminished functional activity of the gonads." + }, + { + "input": "coffin-siris syndrome", + "output": "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails." + }, + { + "input": "gaucher's disease", + "output": "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver." + }, + { + "input": "sphingolipidosis", + "output": "A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates." + }, + { + "input": "williams-beuren syndrome", + "output": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 mb on chromosome 7q11.23." + }, + { + "input": "supravalvular aortic stenosis", + "output": "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart." + }, + { + "input": "reproductive organ cancer", + "output": "An organ system cancer that is manifested in the reproductive organs." + }, + { + "input": "laurence-moon syndrome", + "output": "A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the pnpla6 gene on chromosome 19p13.2." + }, + { + "input": "hypothalamic disease", + "output": "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." + }, + { + "input": "angelman syndrome", + "output": "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance." + }, + { + "input": "rubinstein-taybi syndrome", + "output": "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes." + }, + { + "input": "dysostosis", + "output": "A bone development disease that results in defective ossification of bone." + }, + { + "input": "bardet-biedl syndrome", + "output": "A syndrome that results from mutations in multiple bbs genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases." + }, + { + "input": "atherosclerosis", + "output": "Atherosclerosis" + }, + { + "input": "intermittent squint", + "output": "Intermittent heterotropia" + }, + { + "input": "telogen effluvium", + "output": "Telogen effluvium" + }, + { + "input": "trichomoniasis", + "output": "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites trichomonas vaginalis or trichomonas tenax, which infect the urogenital tract and mouth respectively." + }, + { + "input": "cholecystitis", + "output": "A cholangitis that is characterized by an inflammation that is located in the gallbladder." + }, + { + "input": "fallopian tube disease", + "output": "A female reproductive system disease that is located_in the fallopian tube." + }, + { + "input": "fallopian tube carcinoma", + "output": "A fallopian tube cancer that is located_in the fallopian tube." + }, + { + "input": "fallopian tube cancer", + "output": "A female reproductive organ cancer that is located_in fallopian tube." + }, + { + "input": "fallopian tube leiomyosarcoma", + "output": "A fallopian tube cancer that dervies_from smooth muscle cells." + }, + { + "input": "leiomyosarcoma", + "output": "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis." + }, + { + "input": "cerebral palsy", + "output": "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance." + }, + { + "input": "fallopian tube carcinosarcoma", + "output": "A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue." + }, + { + "input": "fallopian tube adenosarcoma", + "output": "A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue." + }, + { + "input": "adenosarcoma", + "output": "A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." + }, + { + "input": "thymus lipoma", + "output": "An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells." + }, + { + "input": "focal chorioretinitis", + "output": "Focal chorioretinal inflammation" + }, + { + "input": "rectal benign neoplasm", + "output": "An intestinal benign neoplasm located_in the rectum." + }, + { + "input": "rectum lymphoma", + "output": "An extranodal lymphoma that arises from the rectum. the majority are b-cell non-hodgkin lymphomas." + }, + { + "input": "rectum malignant melanoma", + "output": "An aggressive malignant melanocytic neoplasm that arises from the rectum." + }, + { + "input": "rectum cancer", + "output": "A colorectal cancer that is located_in the rectum." + }, + { + "input": "rectum sarcoma", + "output": "A sarcoma and malignant tumor of rectum that is located_in the rectum." + }, + { + "input": "rectum adenocarcinoma", + "output": "A rectum cancer that derives_from epithelial cells of glandular origin." + }, + { + "input": "lutembacher's syndrome", + "output": "A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis." + }, + { + "input": "chronic eustachian salpingitis", + "output": "A otosalpingitis which is persistent and long-lasting." + }, + { + "input": "benign giant cell tumor", + "output": "Tumors of bone tissue or synovial or other soft tissue characterized by the presence of giant cells. the most common are giant cell tumor of tendon sheath and giant cell tumor of bone." + }, + { + "input": "otosalpingitis", + "output": "A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube." + }, + { + "input": "neuroma", + "output": "A nervous system benign neoplasm that is characterized as a nerve tissue tumor." + }, + { + "input": "preretinal fibrosis", + "output": "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. epiretinal membranes may cause vascular leakage and secondary retinal edema. in younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. the majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (newell, ophthalmology: principles and concepts, 7th ed, p291)" + }, + { + "input": "degeneration of macula and posterior pole", + "output": "Degeneration of macula and posterior pole" + }, + { + "input": "connective tissue cancer", + "output": "A musculoskeletal system cancer that is located_in connective tissue." + }, + { + "input": "nezelof syndrome", + "output": "A t cell deficiency that results from the disfunction or underdevelopment of the thymus." + }, + { + "input": "hyperinsulinism", + "output": "Other hypoglycemia" + }, + { + "input": "placenta cancer", + "output": "A female reproductive organ cancer that is located_in the placenta." + }, + { + "input": "placental choriocarcinoma", + "output": "A gestational choriocarcinoma that is located_in the placenta." + }, + { + "input": "gestational choriocarcinoma", + "output": "A choriocarcicoma that develops in the presence of a preceding gestational event." + }, + { + "input": "exostosis", + "output": "A hyperostosis that involves formation of new bone on the surface of preexisting bone." + }, + { + "input": "anxiety disorder", + "output": "A cognitive disorder that involves an excessive, irrational dread of everyday situations." + }, + { + "input": "communication disorder", + "output": "A specific developmental disorder that involves specific developmental disorders of speech and language." + }, + { + "input": "encephalomalacia", + "output": "A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system." + }, + { + "input": "enthesopathy", + "output": "A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation." + }, + { + "input": "hepatitis b", + "output": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in hepatitis b virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. the infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice." + }, + { + "input": "hepatitis d", + "output": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in hepatitis delta virus, which is an incomplete virus that requires the helper function of hepatitis b virus to replicate and only occurs among people who are infected with the hepatitis b virus. the infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma." + }, + { + "input": "autoimmune hepatitis", + "output": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells." + }, + { + "input": "hyperostosis", + "output": "A bone remodeling disease that results in an abnormal growth of located in bone." + }, + { + "input": "acute maxillary sinusitis", + "output": "A maxillary sinusitis which lasts for less than 4 weeks." + }, + { + "input": "maxillary sinusitis", + "output": "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache." + }, + { + "input": "reactive cutaneous fibrous lesion", + "output": "A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing." + }, + { + "input": "post-traumatic stress disorder", + "output": "An anxiety disorder which results from a traumatic experience that results in psychological trauma." + }, + { + "input": "chronic mucocutaneous candidiasis", + "output": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to t-cell defects, has-agent candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp." + }, + { + "input": "vulvar disease", + "output": "A female reproductive system disease that is located_in the vulva." + }, + { + "input": "hereditary multiple exostoses", + "output": "An exostosis that has_material_basis_in a mutation on the genes ext1, ext2 and ext3 which results in multiple bony spurs throughout a child's growth." + }, + { + "input": "vulvar nodular hidradenoma", + "output": "A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells." + }, + { + "input": "vulvar syringoma", + "output": "A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching." + }, + { + "input": "syringoma", + "output": "A benign tumor of the sweat glands which is usually multiple and results from malformation of sweat ducts. it is uncommon and more common in females than in males. it is most likely to appear at adolescence, and further lesions may develop during adult life. it does not appear to be hereditary. (rook et al., textbook of dermatology, 4th ed, pp2407-8)" + }, + { + "input": "vulvar angiokeratoma", + "output": "A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis." + }, + { + "input": "bartholin's gland benign neoplasm", + "output": "A benign or malignant neoplasm that affects the bartholin gland. representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma." + }, + { + "input": "vulvar squamous papilloma", + "output": "A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. there is no evidence of epithelial atypia." + }, + { + "input": "vulvar squamous tumor", + "output": "A vulva cancer that has_material_basis_in squamous tissue." + }, + { + "input": "perinatal intestinal perforation", + "output": "Perinatal intestinal perforation" + }, + { + "input": "intestinal perforation", + "output": "Opening or penetration through the wall of the intestines." + }, + { + "input": "minor vestibular glands adenoma", + "output": "A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." + }, + { + "input": "vulvar glandular tumor", + "output": "A vulva cancer that has_material_basis_in glandular tissue." + }, + { + "input": "chondroid syringoma of the vulva", + "output": "A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. it may recur locally and complete excision is recommended." + }, + { + "input": "eccrine mixed tumor of skin", + "output": "A rare, benign, slow-growing and painless neoplasm of sweat glands. it usually arises in the head and neck. it is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures." + }, + { + "input": "vulvar trichoepithelioma", + "output": "A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. it is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. the tumors represent benign hamartomas of the pilosebaceous apparatus." + }, + { + "input": "transient arthritis", + "output": "Other specific arthropathies, not elsewhere classified" + }, + { + "input": "vulvar melanoma", + "output": "A vulva cancer that has_material_basis_in melanocytes." + }, + { + "input": "sweat gland cancer", + "output": "Other and unspecified malignant neoplasm of skin" + }, + { + "input": "vulvar sarcoma", + "output": "A vulva cancer that has_material_basis_in connective tissue." + }, + { + "input": "vulval paget's disease", + "output": "A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features." + }, + { + "input": "vulva adenocarcinoma", + "output": "A vulva carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "heel spur", + "output": "An exostosis that results_in an abnormal growth located_in calcaneus." + }, + { + "input": "vulva squamous cell carcinoma", + "output": "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue." + }, + { + "input": "myotonia congenita", + "output": "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres." + }, + { + "input": "cystoisosporiasis", + "output": "A coccidiosis that involves infection of the epithelial cells of the small intestine with cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss." + }, + { + "input": "coccidiosis", + "output": "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by coccidia protozoa. immunocompromised persons are at greater risk of developing the infection." + }, + { + "input": "b cell deficiency", + "output": "A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing b cells (immunoglobulins) or b cells that are not functioning properly." + }, + { + "input": "focal dermal hypoplasia", + "output": "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the porcn gene on chromosome xp11.23." + }, + { + "input": "ectodermal dysplasia", + "output": "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings." + }, + { + "input": "pneumonic tularemia", + "output": "A tularemia that is located_in lungs. the bacteria are transmitted_by breathing dusts or aerosols containing the organisms. the infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing." + }, + { + "input": "tularemia", + "output": "A primary bacterial infectious disease that has_material_basis_in francisella tularensis, which is transmitted by dog tick bite (dermacentor variabilis), transmitted by deer flies (chrysops sp) or transmitted by contact with infected animal tissues." + }, + { + "input": "brain germinoma", + "output": "A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells." + }, + { + "input": "atypical teratoid rhabdoid tumor", + "output": "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system." + }, + { + "input": "brain sarcoma", + "output": "A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm." + }, + { + "input": "central nervous system sarcoma", + "output": "A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm." + }, + { + "input": "temporal lobe neoplasm", + "output": "Malignant neoplasm of temporal lobe" + }, + { + "input": "teeth hard tissue disease", + "output": "Other specified diseases of hard tissues of teeth" + }, + { + "input": "urethral urothelial papilloma", + "output": "Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. papilloma's of the urethra typically occur just within or on the external meatus. - 2003" + }, + { + "input": "urethra leiomyoma", + "output": "An urethral benign neoplasm that derives_from smooth muscle cells." + }, + { + "input": "ovarian malignant mesothelioma", + "output": "An ovarian cancer that derives_from mesothelial tissue." + }, + { + "input": "malignant ovarian cyst", + "output": "An ovarian cancer that is characterized by cystic structure." + }, + { + "input": "ovary sarcoma", + "output": "An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm." + }, + { + "input": "tuberculous oophoritis", + "output": "An urogenital tuberculosis that results_in inflammtion located_in ovary." + }, + { + "input": "urogenital tuberculosis", + "output": "An extrapulmonary tuberculosis that is located_in urogenital system." + }, + { + "input": "ovarian lymphoma", + "output": "An ovarian cancer that arises_from lymphocytes." + }, + { + "input": "malignant ovarian surface epithelial-stromal neoplasm", + "output": "An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary." + }, + { + "input": "ovary epithelial cancer", + "output": "An ovarian cancer that is derives_from ovarian surface epithelium." + }, + { + "input": "ovarian wilms' cancer", + "output": "A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries." + }, + { + "input": "nephroblastoma", + "output": "A kidney cancer that affects the kidneys and typically located_in children." + }, + { + "input": "malignant ovarian germ cell neoplasm", + "output": "An invasive malignant neoplasm that arises from the ovary and originates from primordial germ cells. representative examples include embryonal carcinoma, yolk sac tumor, dysgerminoma, and non-gestational choriocarcinoma." + }, + { + "input": "ovarian germ cell cancer", + "output": "An ovarian cancer that originates in the germ (egg) cells of the ovary." + }, + { + "input": "dental caries", + "output": "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth\u2019s surface, or enamel." + }, + { + "input": "nasal cavity disease", + "output": "A non-neoplastic or neoplastic disorder that affects the nasal cavity. representative examples include inflammatory disorders, papillomas, and carcinomas." + }, + { + "input": "vaginitis", + "output": "A vaginal disease that is characterized by inflammation of the vagina." + }, + { + "input": "eyelid benign neoplasm", + "output": "Tumors of cancer of the eyelids." + }, + { + "input": "ocular cancer", + "output": "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye." + }, + { + "input": "ascending colon cancer", + "output": "Malignant neoplasm of ascending colon" + }, + { + "input": "post-surgical hypoinsulinemia", + "output": "Postprocedural hypoinsulinemia" + }, + { + "input": "amelogenesis imperfecta", + "output": "A dental enamel hypoplasia characterized by abnormal enamel formation." + }, + { + "input": "colon cancer", + "output": "A colorectal cancer that is located_in the colon." + }, + { + "input": "acute perichondritis of pinna", + "output": "A perichondritis of auricle with a sudden onset and a short course." + }, + { + "input": "factor xiii deficiency", + "output": "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the f13a1 or f13b gene, which encodes factor xiii, formally known as fibrin stabilizing factor." + }, + { + "input": "hemorrhagic disease", + "output": "Hemorrhagic condition, unspecified" + }, + { + "input": "factor vii deficiency", + "output": "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the f7 gene, which encodes coagulation factor vii, an important factor in the clotting cascade." + }, + { + "input": "factor v deficiency", + "output": "Hereditary deficiency of other clotting factors" + }, + { + "input": "bernard-soulier syndrome", + "output": "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von willebrand factor that has_material_basis_in mutation in the gp1ba gene, the gp1bb gene, or the gp9 gene which are subunits of the platelet membrane von willebrand factor receptor complex, glycoprotein ib." + }, + { + "input": "blood platelet disease", + "output": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction." + }, + { + "input": "glanzmann's thrombasthenia", + "output": "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the itga2b or itgb3 genes on chromosome 17q21.32." + }, + { + "input": "perichondritis of auricle", + "output": "An 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." + }, + { + "input": "factor x deficiency", + "output": "A blood coagulation disease that is characterized by the partial or complete absence of factor x activity in the blood." + }, + { + "input": "platelet storage pool deficiency", + "output": "Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5ht are normally stored." + }, + { + "input": "essential thrombocythemia", + "output": "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets." + }, + { + "input": "myeloproliferative neoplasm", + "output": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood." + }, + { + "input": "thrombocytosis", + "output": "A blood platelet disease that is characterized by the presence of high platelet counts in the blood." + }, + { + "input": "factor xi deficiency", + "output": "A blood coagulation disease that is characterized by deficiency of factor xi clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor xi gene of chromosome 4q35.2." + }, + { + "input": "basilar artery insufficiency", + "output": "A syndrome which occurs as a result of the occlusion of the basilar artery. it may be caused by atherosclerosis, embolism or hemorrhage. clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. the clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function." + }, + { + "input": "factor xii deficiency", + "output": "A blood coagulation disease that is characterized by prolonged ptt time without clinical symptoms, and has_material_basis_in a mutation in the f12 gene on chromosome 5q33." + }, + { + "input": "focal epilepsy", + "output": "An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response." + }, + { + "input": "prothrombin deficiency", + "output": "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor ii, also known as prothrombin, on chromosome 11p11." + }, + { + "input": "congenital afibrinogenemia", + "output": "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor i)." + }, + { + "input": "hepatitis", + "output": "Chronic hepatitis, unspecified" + }, + { + "input": "granulomatous hepatitis", + "output": "Hepatitis that is characterized by the presence of granulomas." + }, + { + "input": "transient cerebral ischemia", + "output": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." + }, + { + "input": "spondylosis", + "output": "A bone structure disease that involves degeneration between vertebra located_in vertebral column." + }, + { + "input": "syndrome", + "output": "A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality." + }, + { + "input": "hypertrophic elongation of cervix", + "output": "Hypertrophic elongation of cervix uteri" + }, + { + "input": "cervix disease", + "output": "An uterine disease that is located_in the cervix." + }, + { + "input": "osteochondrodysplasia", + "output": "A bone development disease that results_in defective development of cartilage or bone." + }, + { + "input": "ankylosis", + "output": "An arthropathy where there is a stiffness of a joint, the result of injury or disease. the rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself." + }, + { + "input": "vulvovaginal candidiasis", + "output": "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by candida albicans. the symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge." + }, + { + "input": "vulvovaginitis", + "output": "A female reproductive system disease that is characterized by inflammation of the vagina and vulva." + }, + { + "input": "pharyngitis", + "output": "An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. the infection is often referred to as sore throat. the symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever." + }, + { + "input": "gonadal disease", + "output": "An endocrine system disease that is located_in the gonads." + }, + { + "input": "hidradenitis suppurativa", + "output": "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation." + }, + { + "input": "hidradenitis", + "output": "A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain." + }, + { + "input": "keratopathy", + "output": "Any disorder of the cornea." + }, + { + "input": "capillary lymphangioma", + "output": "A lymphangioma arising from the skin." + }, + { + "input": "female reproductive system disease", + "output": "A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes." + }, + { + "input": "leptospirosis", + "output": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. the infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly." + }, + { + "input": "lateral sclerosis", + "output": "A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs." + }, + { + "input": "spondylolysis", + "output": "A bone structure disease that involves a defect located_in lumbar vertebral column." + }, + { + "input": "stereotypic movement disorder", + "output": "A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking." + }, + { + "input": "motor neuron disease", + "output": "A neurodegenerative disease that is located_in the motor neurons." + }, + { + "input": "nocardiosis", + "output": "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in nocardia asteroides. the infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy." + }, + { + "input": "malt worker's lung", + "output": "An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of aspergillus clavatus and aspergillus fumigatus from moldy barley." + }, + { + "input": "brain ischemia", + "output": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand." + }, + { + "input": "obstructive lung disease", + "output": "A lung disease that is characterized by narrowing of pulmonary airways." + }, + { + "input": "gastroenteritis", + "output": "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. chemicals and drugs also cause gastroenteritis. the symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen." + }, + { + "input": "viral gastritis", + "output": "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. the symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting." + }, + { + "input": "mandibular cancer", + "output": "A jaw cancer and mandibular disease that affects your lower jawbone." + }, + { + "input": "crouzon syndrome", + "output": "A craniosynostosis that involves premature fusion of certain skull bones. this early fusion prevents the skull from growing normally and affects the shape of the head and face. the disease is associated with mutations in the fgfr2 gene." + }, + { + "input": "colon adenocarcinoma", + "output": "A colon carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "craniosynostosis", + "output": "A synostosis that results_in premature fusion located_in skull." + }, + { + "input": "polyclonal hypergammaglobulinemia", + "output": "Polyclonal hypergammaglobulinemia" + }, + { + "input": "plasma protein metabolism disease", + "output": "An inherited metabolic disorder that involves plasma protein metabolism malfunction." + }, + { + "input": "generalized atherosclerosis", + "output": "Generalized atherosclerosis" + }, + { + "input": "arteriosclerotic cardiovascular disease", + "output": "Atherosclerosis" + }, + { + "input": "arteriosclerosis", + "output": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries." + }, + { + "input": "colonic benign neoplasm", + "output": "An intestinal benign neoplasm that is located_in the colon." + }, + { + "input": "iron metabolism disease", + "output": "Disorders of iron metabolism" + }, + { + "input": "hemochromatosis", + "output": "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body." + }, + { + "input": "myelophthisic anemia", + "output": "An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas." + }, + { + "input": "anemia", + "output": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells." + }, + { + "input": "macrocytic anemia", + "output": "Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (mcv) and increased mean corpuscular hemoglobin (mch)." + }, + { + "input": "post-thrombotic syndrome", + "output": "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis." + }, + { + "input": "west nile encephalitis", + "output": "A viral infectious disease that results in inflammation located in brain, has_material_basis_in west nile virus, which is transmitted_by culex, aedes, or anopheles species of mosquitoes. the infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis." + }, + { + "input": "west nile fever", + "output": "A viral infectious disease that results_in infection, has_material_basis_in west nile virus, which is transmitted_by culex and transmitted_by aedes mosquitoes. the infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting." + }, + { + "input": "neuroaxonal dystrophy", + "output": "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. juvenile and adult forms also occur. pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (from davis & robertson, textbook of neuropathology, 2nd ed, p927)" + }, + { + "input": "gangliosidosis", + "output": "A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides." + }, + { + "input": "hereditary elliptocytosis", + "output": "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present." + }, + { + "input": "multiple sclerosis", + "output": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring." + }, + { + "input": "relapsing-remitting multiple sclerosis", + "output": "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." + }, + { + "input": "pupil disease", + "output": "Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes." + }, + { + "input": "kernicterus", + "output": "A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction." + }, + { + "input": "neonatal jaundice", + "output": "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant." + }, + { + "input": "wernicke encephalopathy", + "output": "A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of b-vitamin reserves, in particular thiamine (vitamin b1)." + }, + { + "input": "renal artery disease", + "output": "A kidney disorder that results from the damage of the renal arteries or veins. it may lead to renal dysfunction and/or hypertension." + }, + { + "input": "glandular cystitis", + "output": "A reactive inflammatory disorder affecting the bladder. it is characterized by the development of small cysts in the bladder wall. the cysts are lined by metaplastic glandular cells." + }, + { + "input": "ovarian cancer", + "output": "A female reproductive organ cancer that is located_in the ovary." + }, + { + "input": "iris disease", + "output": "Diseases, dysfunctions, or disorders of or located in the iris." + }, + { + "input": "clitoris cancer", + "output": "A vulva cancer that is located_in the clitoris." + }, + { + "input": "rhinosporidiosis", + "output": "A parasitic ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed." + }, + { + "input": "granular cell tumor", + "output": "Unusual tumor affecting any site of the body, but most often encountered in the head and neck. considerable debate has surrounded the histogenesis of this neoplasm; however, it is considered to be a myoblastoma of, usually, a benign nature. it affects women more often than men. when it develops beneath the epidermis or mucous membrane, it can lead to proliferation of the squamous cells and mimic squamous cell carcinoma." + }, + { + "input": "cutaneous ganglioneuroma", + "output": "A ganglioneuroma arising from the skin." + }, + { + "input": "gangliocytoma", + "output": "A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells." + }, + { + "input": "skin glomus tumor", + "output": "A glomus tumor arising from the skin. it usually presents as a small red-blue nodule and it often associated with pain at the site." + }, + { + "input": "glomus tumor", + "output": "A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body." + }, + { + "input": "epidermal appendage tumor", + "output": "A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands." + }, + { + "input": "skin glomangioma", + "output": "A glomus tumor arising from the skin. it is characterized by the presence of dilated veins surrounded by glomus cells." + }, + { + "input": "glomangioma", + "output": "A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. glomangiomas are most often present in patients with multiple lesions." + }, + { + "input": "dermis tumor", + "output": "A benign, intermediate, or malignant neoplasm that arises from the dermis." + }, + { + "input": "frontal sinus squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the frontal sinus." + }, + { + "input": "hyperpituitarism", + "output": "Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. hyperpituitarism usually is caused by a functional adenoma." + }, + { + "input": "acromegaly", + "output": "A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb." + }, + { + "input": "central retinal vein occlusion", + "output": "Central retinal vein occlusion" + }, + { + "input": "protein s deficiency", + "output": "A thrombophilia that is characterized by increased risk of developing abnormal blood clots." + }, + { + "input": "thrombophilia", + "output": "A blood coagulation disease that is characterized by an increased tendency to form clots." + }, + { + "input": "angular blepharoconjunctivitis", + "output": "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area." + }, + { + "input": "blepharoconjunctivitis", + "output": "A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis." + }, + { + "input": "giant papillary conjunctivitis", + "output": "Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva." + }, + { + "input": "papillary conjunctivitis", + "output": "Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva." + }, + { + "input": "anterior dislocation of lens", + "output": "Anterior dislocation of lens" + }, + { + "input": "retinal vascular disease", + "output": "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage." + }, + { + "input": "psychotic disorder", + "output": "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality." + }, + { + "input": "opportunistic mycosis", + "output": "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in fungi. the organisms invade via the respiratory tract, alimentary tract, or intravascular devices." + }, + { + "input": "vernal conjunctivitis", + "output": "Vernal conjunctivitis" + }, + { + "input": "chronic conjunctivitis", + "output": "Chronic conjunctivitis" + }, + { + "input": "hereditary spastic paraplegia", + "output": "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs." + }, + { + "input": "motor peripheral neuropathy", + "output": "A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves." + }, + { + "input": "central nervous system origin vertigo", + "output": "A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking." + }, + { + "input": "trachea leiomyoma", + "output": "A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea." + }, + { + "input": "phosphorus metabolism disease", + "output": "Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization." + }, + { + "input": "sensory peripheral neuropathy", + "output": "A neuropathy that involves damage to nerves of the peripheral nervous system." + }, + { + "input": "gastric antral vascular ectasia", + "output": "A distinct vascular lesion in the pyloric antrum that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the pylorus. the vessel pattern resembles the stripes on the surface of a watermelon. this lesion causes both acute and chronic gastrointestinal hemorrhage." + }, + { + "input": "angiodysplasia", + "output": "A vascular disease that is characterized as a small vascular malformation of the gut." + }, + { + "input": "senile angioma", + "output": "A capillary hemangioma of the skin, presenting as a red papular lesion." + }, + { + "input": "tooth erosion", + "output": "Erosion of teeth" + }, + { + "input": "takayasu's arteritis", + "output": "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body." + }, + { + "input": "kluver-bucy syndrome", + "output": "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior." + }, + { + "input": "nevoid basal cell carcinoma syndrome", + "output": "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities." + }, + { + "input": "basal cell carcinoma", + "output": "A skin carcinoma affecting basal cells." + }, + { + "input": "intracranial cavernous angioma", + "output": "A cavernous hemangioma arising from the brain and meninges." + }, + { + "input": "intracranial structure hemangioma", + "output": "Hemangioma of intracranial structures" + }, + { + "input": "orchitis", + "output": "Orchitis" + }, + { + "input": "testicular disease", + "output": "Pathological processes of the testis." + }, + { + "input": "alcoholic psychosis", + "output": "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal." + }, + { + "input": "prostate adenocarcinoma", + "output": "A prostate carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "nephrosis", + "output": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation." + }, + { + "input": "splenic disease", + "output": "Diseases of spleen" + }, + { + "input": "splenic abscess", + "output": "Abscess of spleen" + }, + { + "input": "hematologic cancer", + "output": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." + }, + { + "input": "splenic infarction", + "output": "Infarction of spleen" + }, + { + "input": "chronic inflammatory demyelinating polyneuritis", + "output": "Chronic inflammatory demyelinating polyneuritis" + }, + { + "input": "inflammatory and toxic neuropathy", + "output": "A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment." + }, + { + "input": "landau-kleffner syndrome", + "output": "A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (eeg) findings during sleep and clinical seizures in most patients." + }, + { + "input": "hemangioma of intra-abdominal structure", + "output": "Hemangioma of intra-abdominal structures" + }, + { + "input": "extratemporal epilepsy", + "output": "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe." + }, + { + "input": "reflex epilepsy", + "output": "A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity." + }, + { + "input": "hemangioma", + "output": "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood." + }, + { + "input": "granulomatous angiitis", + "output": "Inflammation of the arteries that is characterized by the presence of granulomas." + }, + { + "input": "relapsing polychondritis", + "output": "A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body." + }, + { + "input": "chondromalacia", + "output": "A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint." + }, + { + "input": "opiate dependence", + "output": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance." + }, + { + "input": "hemangioma of spleen", + "output": "A hemangioma arising from the spleen." + }, + { + "input": "morphine dependence", + "output": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance." + }, + { + "input": "suppurative periapical periodontitis", + "output": "Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (dorland, 27th ed)" + }, + { + "input": "macular corneal dystrophy", + "output": "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea." + }, + { + "input": "corneal dystrophy", + "output": "Hereditary corneal dystrophies" + }, + { + "input": "cervicitis", + "output": "A cervix disease that is characterized by inflammation of the cervix." + }, + { + "input": "retinal drusen", + "output": "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. they may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." + }, + { + "input": "malignant histiocytic disease", + "output": "Distinctive neoplastic disorders of histiocytes. included are malignant neoplasms of macrophages and dendritic cells." + }, + { + "input": "langerhans-cell histiocytosis", + "output": "A histiocytosis that is characterized by clonal proliferation of langerhans cells." + }, + { + "input": "barbiturate dependence", + "output": "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance." + }, + { + "input": "rhizomelic chondrodysplasia punctata", + "output": "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity." + }, + { + "input": "chondrodysplasia punctata", + "output": "A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography." + }, + { + "input": "acatalasia", + "output": "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the cat gene on chromosome 11p13." + }, + { + "input": "agammaglobulinemia", + "output": "A b cell deficiency that is caused by a reduction in all types of gamma globulins." + }, + { + "input": "familial nephrotic syndrome", + "output": "A nephrotic syndrome that has_material_basis_in genetic mutations." + }, + { + "input": "glottis cancer", + "output": "Malignant neoplasm of glottis" + }, + { + "input": "larynx cancer", + "output": "A respiratory system cancer that is located_in the larynx." + }, + { + "input": "glottis neoplasm", + "output": "A benign or malignant neoplasm that affects the glottic area of the larynx." + }, + { + "input": "laryngeal benign neoplasm", + "output": "Cancers or tumors of the larynx or any of its parts: the glottis; epiglottis; laryngeal cartilages; laryngeal muscles; and vocal cords." + }, + { + "input": "glottis carcinoma", + "output": "A carcinoma of the larynx that arises from the glottic area." + }, + { + "input": "pancreas disease", + "output": "An endocrine system disease that is located_in the pancreas." + }, + { + "input": "hepatic flexure cancer", + "output": "Malignant neoplasm of hepatic flexure" + }, + { + "input": "laryngeal carcinoma", + "output": "A larynx cancer that has_material_basis_in epithelial cells." + }, + { + "input": "juxtacortical chondroma", + "output": "A benign neoplasm of bone surface composed of hyaline cartilage. it arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification." + }, + { + "input": "chondroma", + "output": "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern." + }, + { + "input": "adenomyoma", + "output": "A cell type benign neoplasm that has_material_basis_in gland and muscle components." + }, + { + "input": "transverse colon cancer", + "output": "Malignant neoplasm of transverse colon" + }, + { + "input": "serous surface papilloma", + "output": "A non-invasive papillary serous epithelial neoplasm usually arising from the ovary." + }, + { + "input": "papilloma", + "output": "A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue." + }, + { + "input": "wolffian duct adenoma", + "output": "A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the wolffian duct." + }, + { + "input": "kidney hemangiopericytoma", + "output": "A kidney cancer which is manifested in the kidney." + }, + { + "input": "autonomic nervous system neoplasm", + "output": "A peripheral nervous system neoplasm that is located_in the autonomic nervous system." + }, + { + "input": "choroid plexus papilloma", + "output": "A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged choroid plexus, which may be associated with oversecretion of csf. the tumor usually presents in the first decade of life with signs of increased intracranial pressure including headaches; ataxia; diplopia; and alterations of mental status. in children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. malignant transformation to choroid plexus carcinomas may rarely occur. (adams et al., principles of neurology, 6th ed, p667; devita et al., cancer: principles and practice of oncology, 5th ed, p2072)" + }, + { + "input": "kidney cancer", + "output": "A urinary system cancer that is located_in the kidney." + }, + { + "input": "papillary serous adenocarcinoma", + "output": "A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies." + }, + { + "input": "cystadenoma", + "output": "An adenoma that forms a cyst." + }, + { + "input": "ovarian brenner tumor", + "output": "An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary." + }, + { + "input": "breast pericanalicular fibroadenoma", + "output": "A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures." + }, + { + "input": "hemangiopericytoma", + "output": "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries." + }, + { + "input": "struma ovarii", + "output": "An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue." + }, + { + "input": "ovarian germ cell monodermal and highly specialized teratoma", + "output": "A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary." + }, + { + "input": "perivascular epithelioid cell tumor", + "output": "A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. these cells do not have a normal anatomic homolog. (from fletcher cdm, et. al., world health organization classification of tumors: pathology and genetics of tumors of soft tissue and bone, 2002)." + }, + { + "input": "benign mesothelioma", + "output": "A cell type benign neoplasm that has_material_basis_in mesothelium." + }, + { + "input": "parachordoma", + "output": "A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities." + }, + { + "input": "sebaceous adenoma", + "output": "A benign, well circumscribed neoplasm arising from the sebaceous glands. it usually presents as a small yellowish tumor in the sun exposed skin of head and neck. it is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells." + }, + { + "input": "chondroblastoma", + "output": "A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints." + }, + { + "input": "spleen angiosarcoma", + "output": "An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen." + }, + { + "input": "benign fibrous mesothelioma", + "output": "A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. it is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen." + }, + { + "input": "breast intracanalicular fibroadenoma", + "output": "A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts." + }, + { + "input": "dermoid cyst", + "output": "A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)." + }, + { + "input": "cystic teratoma", + "output": "A benign teratoma that is characterized by the presence of cysts or cystic spaces." + }, + { + "input": "myoepithelioma", + "output": "A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland." + }, + { + "input": "sweat gland benign neoplasm", + "output": "New abnormal growth of tissue in the sweat glands." + }, + { + "input": "mesenchymoma", + "output": "A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. mesenchymomas are widely distributed in the body and about 75% are malignant. (dorland, 27th ed; holland et al., cancer medicine, 3d ed, p1866)" + }, + { + "input": "pacinian tumor", + "output": "A neurofibroma characterized by the presence of structures which resemble vater-pacini corpuscles." + }, + { + "input": "transitional papilloma", + "output": "A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity." + }, + { + "input": "transitional cell carcinoma", + "output": "A carcinoma that derives_from transitional epithelial cells." + }, + { + "input": "adult cystic nephroma", + "output": "A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium." + }, + { + "input": "dysembryoplastic neuroepithelial tumor", + "output": "A benign glial-neuronal neoplasm. it is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. a histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface. (adapted from who)" + }, + { + "input": "liver angiosarcoma", + "output": "An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and ca liver - primary that is located_in the liver." + }, + { + "input": "adenofibroma", + "output": "A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands." + }, + { + "input": "ossifying fibromyxoid tumor", + "output": "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. the lesions are associated with the formation of metaplastic bone. most patients present with painless subcutaneous masses. recurrences have been reported in a minority of patients." + }, + { + "input": "skin sarcoma", + "output": "A sarcoma that is located_in the skin." + }, + { + "input": "lymphangiosarcoma", + "output": "A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels." + }, + { + "input": "myoma", + "output": "A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells." + }, + { + "input": "leydig cell tumor", + "output": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of leydig cells located_in ovary or testicle." + }, + { + "input": "renal adenoma", + "output": "An adenoma arising from the renal cortex." + }, + { + "input": "nephrogenic adenofibroma", + "output": "A benign, solitary, and partially cystic neoplasm arising from the kidney. it occurs in children and adults. presenting symptoms include hematuria and polycythemia. it is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells." + }, + { + "input": "liver sarcoma", + "output": "A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver." + }, + { + "input": "mucinous adenofibroma", + "output": "An adenofibroma that is characterized by the presence of mucin." + }, + { + "input": "nodular tenosynovitis", + "output": "A benign neoplasm arising from the synovial membrane. examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath." + }, + { + "input": "pigmented villonodular synovitis", + "output": "Villonodular synovitis (pigmented)" + }, + { + "input": "synovitis", + "output": "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling." + }, + { + "input": "malignant giant cell tumor of the tendon sheath", + "output": "An uncommon malignant tumor arising from the tendon sheath. morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well." + }, + { + "input": "malignant giant cell tumor", + "output": "A malignant neoplasm characterized by then presence of atypical giant cells." + }, + { + "input": "synovium cancer", + "output": "A malignant neoplasm that affects the synovium." + }, + { + "input": "mushroom workers' lung", + "output": "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. it is usually caused by the spores of thermophilic actinomycetes." + }, + { + "input": "hemangioma of liver", + "output": "A hemangioma arising from the liver." + }, + { + "input": "sick building syndrome", + "output": "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. the disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building." + }, + { + "input": "phimosis", + "output": "Phimosis" + }, + { + "input": "bloom syndrome", + "output": "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability." + }, + { + "input": "hemopneumothorax", + "output": "A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity." + }, + { + "input": "hepatic vascular disease", + "output": "A vascular disease that is located_in the liver." + }, + { + "input": "acrodermatitis", + "output": "A dermatitis that selectively affects the hands and feet." + }, + { + "input": "dermatitis", + "output": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin." + }, + { + "input": "capillary hemangioma", + "output": "A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells." + }, + { + "input": "dyskeratosis congenita", + "output": "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer." + }, + { + "input": "epidermolysis bullosa", + "output": "A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin." + }, + { + "input": "vesiculobullous skin disease", + "output": "A bullous skin disease that is characterized by fluid filled blisters." + }, + { + "input": "rothmund-thomson syndrome", + "output": "A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the dna helicase gene recql4 on chromosome 8q24." + }, + { + "input": "skin atrophy", + "output": "Atrophic disorders of skin" + }, + { + "input": "keratosis follicularis", + "output": "Other manifestations of vitamin a deficiency" + }, + { + "input": "hajdu-cheney syndrome", + "output": "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the notch2 gene on chromosome 1p12." + }, + { + "input": "pseudoxanthoma elasticum", + "output": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system." + }, + { + "input": "gilbert syndrome", + "output": "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." + }, + { + "input": "bilirubin metabolic disorder", + "output": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism." + }, + { + "input": "auditory system disease", + "output": "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system." + }, + { + "input": "pyeloureteritis cystica", + "output": "Pyeloureteritis cystica" + }, + { + "input": "pyelitis", + "output": "Tubulo-interstitial nephritis, not specified as acute or chronic" + }, + { + "input": "narcissistic personality disorder", + "output": "A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity." + }, + { + "input": "glycogen storage disease v", + "output": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the pygm gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13." + }, + { + "input": "glycogen storage disease", + "output": "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types." + }, + { + "input": "glycogen storage disease iii", + "output": "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the agl gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21." + }, + { + "input": "glycogen storage disease ia", + "output": "A glycogen storage disease i that has_material_basis_in homozygous or compound heterozygous mutation in the g6pc gene, which encodes glucose-6-phosphatase (g6pase), on chromosome 17q21." + }, + { + "input": "gastric hemangioma", + "output": "A hemangioma arising from the stomach." + }, + { + "input": "glycogen storage disease iv", + "output": "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the gbe1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12." + }, + { + "input": "glycogen storage disease viii", + "output": "A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity." + }, + { + "input": "glycogen storage disease ii", + "output": "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome." + }, + { + "input": "glycogen storage disease vi", + "output": "A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation." + }, + { + "input": "mycobacterium avium complex disease", + "output": "A primary bacterial infectious disease that results_in infection, has_material_basis_in mycobacterium avium complex (mac), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. the bacteria cause disseminated infection in hiv infected people, while pulmonary disease in immunocompetent persons." + }, + { + "input": "bone carcinoma", + "output": "A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "ethmoid sinus squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the ethmoid sinus." + }, + { + "input": "ethmoid sinus adenoid cystic carcinoma", + "output": "An adenoid cystic carcinoma that affects the ethmoid sinus." + }, + { + "input": "ethmoid sinus adenocarcinoma", + "output": "An ethmoid sinus cancer that derives from epithelial cells of glandular origin." + }, + { + "input": "transient tic disorder", + "output": "A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months." + }, + { + "input": "tic disorder", + "output": "A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occuring intermittently and unpredictably out of a background of normal motor activity." + }, + { + "input": "chorioangioma", + "output": "A hemangioma arising from the fetal blood vessels in the placental villi." + }, + { + "input": "irritant dermatitis", + "output": "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation." + }, + { + "input": "contact dermatitis", + "output": "Unspecified contact dermatitis, unspecified cause" + }, + { + "input": "long bone adamantinoma", + "output": "An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation." + }, + { + "input": "adamantinoma", + "output": "A bone cancer that is located_in almost exclusively in the long bones." + }, + { + "input": "rectosigmoid junction neoplasm", + "output": "A benign or malignant neoplasm that affects the rectosigmoid region. representative examples of benign neoplasms include lipoma and leiomyoma. representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms." + }, + { + "input": "rectosigmoid cancer", + "output": "A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. the vast majority are adenocarcinomas. about 50% of colorectal carcinomas occur in the rectosigmoid area." + }, + { + "input": "rectosigmoid junction cancer", + "output": "Malignant neoplasm of rectosigmoid junction" + }, + { + "input": "lung sarcoma", + "output": "A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin." + }, + { + "input": "dandy-walker syndrome", + "output": "A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle." + }, + { + "input": "cerebellar disease", + "output": "A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome." + }, + { + "input": "parasitic protozoa infectious disease", + "output": "A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes." + }, + { + "input": "necatoriasis", + "output": "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." + }, + { + "input": "idiopathic interstitial pneumonia", + "output": "A pneumonia located_in the lung parenchyma of unknown cause." + }, + { + "input": "bronchiolitis obliterans", + "output": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." + }, + { + "input": "endocrine system disease", + "output": "A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body." + }, + { + "input": "acute interstitial pneumonia", + "output": "A idiopathic interstitial pneumonia which develops suddenly and is severe. initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. later, it develops loose organizing fibrosis, mostly within alveolar septa and type ii pneumocyte hyperplasia. fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure." + }, + { + "input": "nonspecific interstitial pneumonia", + "output": "An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. a dry cough and shortness of breath develop over 6 to 18 months. low-grade fever and a feeling of illness (malaise) may occur." + }, + { + "input": "middle lobe syndrome", + "output": "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. it is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection." + }, + { + "input": "malignant neoplasm of acoustic nerve", + "output": "Malignant neoplasm of acoustic nerve" + }, + { + "input": "cranial nerve malignant neoplasm", + "output": "A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells." + }, + { + "input": "malignant oculomotor nerve tumor", + "output": "A malignant neoplasm involving the oculomotor nerve." + }, + { + "input": "cranial nerve iii tumor", + "output": "A neoplasm involving the oculomotor nerve." + }, + { + "input": "nose disease", + "output": "Disorders of the nose, general or unspecified." + }, + { + "input": "acalculous cholecystitis", + "output": "A cholecystitis characterized by the absence of gallstones." + }, + { + "input": "geotrichosis", + "output": "An opportunistic mycosis that has_material_basis_in galactomyces geotrichum, results_in systemic infection in immunocompromised people." + }, + { + "input": "dehydration polycythemia", + "output": "Polycythemia resulting from dehydration." + }, + { + "input": "acquired polycythemia", + "output": "Secondary polycythemia" + }, + { + "input": "polycythemia due to hypoxia", + "output": "Polycythemia resulting from hypoxia." + }, + { + "input": "stress polycythemia", + "output": "Secondary polycythemia" + }, + { + "input": "erythropoietin polycythemia", + "output": "Secondary polycythemia" + }, + { + "input": "asthma", + "output": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. the disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." + }, + { + "input": "jervell-lange nielsen syndrome", + "output": "A form of long qt syndrome that is associated with congenital deafness. it is characterized by abnormal cardioelectrophysiology involving the voltage-gated potassium channel. it results from mutation of kcnq1 gene (subtype 1 or jln1) or the kcne1 gene (subtype 2 or jln2)." + }, + { + "input": "long qt syndrome", + "output": "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (tdp, a form of irregular heartbeat that originates from the ventricles)." + }, + { + "input": "bruxism", + "output": "A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping." + }, + { + "input": "hairy cell leukemia", + "output": "A chronic lymphocytic leukemia that is characterized by over production of b cells (lymphocytes) by the bone marrow where the b cells appear hairy under a microscope." + }, + { + "input": "hyperthyroxinemia", + "output": "A thyroid gland disease that is characterized by elevated thyroxine levels in the blood." + }, + { + "input": "euthyroid sick syndrome", + "output": "Sick-euthyroid syndrome" + }, + { + "input": "hemoglobin c disease", + "output": "Other hemoglobinopathies" + }, + { + "input": "hemoglobinopathy", + "output": "Other hemoglobinopathies" + }, + { + "input": "congenital nonspherocytic hemolytic anemia", + "output": "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase." + }, + { + "input": "glucosephosphate dehydrogenase deficiency", + "output": "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated g6pd or g6pdh)." + }, + { + "input": "endometrial adenocarcinoma", + "output": "An endometrial carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "endometrial carcinoma", + "output": "A endometrial cancer that is located_in the tissue lining the uterus." + }, + { + "input": "laryngeal squamous cell carcinoma", + "output": "A laryngeal carcinoma that has_material_basis_in squamous cells." + }, + { + "input": "larynx sarcoma", + "output": "A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm." + }, + { + "input": "nodular degeneration of cornea", + "output": "Nodular corneal degeneration" + }, + { + "input": "endometriosis of uterus", + "output": "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium." + }, + { + "input": "prostatic adenoma", + "output": "A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate." + }, + { + "input": "benign prostate phyllodes tumor", + "output": "A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells." + }, + { + "input": "prostate leiomyoma", + "output": "A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate." + }, + { + "input": "retrocochlear disease", + "output": "Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. when hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." + }, + { + "input": "endometriosis", + "output": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body." + }, + { + "input": "thyroid adenoma", + "output": "An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells." + }, + { + "input": "exocervical carcinoma", + "output": "A cervix carcinoma that is located_in the exocervix." + }, + { + "input": "cervix carcinoma", + "output": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "goldenhar syndrome", + "output": "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. it is associated with anomalous development of the first branchial arch and second branchial arch." + }, + { + "input": "treacher collins syndrome", + "output": "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities." + }, + { + "input": "acute pancreatitis", + "output": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock." + }, + { + "input": "immune system disease", + "output": "A disease of anatomical entity that is located_in the immune system." + }, + { + "input": "hypersensitivity reaction type iv disease", + "output": "A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where th1 helper t cells react with antigens on antigen-presenting cells and cause a delayed type immune response." + }, + { + "input": "cryoglobulinemia", + "output": "A hypersensitivity reaction type iv disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures." + }, + { + "input": "membranoproliferative glomerulonephritis", + "output": "Chronic glomerulonephritis characterized histologically by proliferation of mesangial cells, increase in the mesangial extracellular matrix, and a thickening of the glomerular capillary walls. this may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease systemic lupus erythematosus. various subtypes are classified by their abnormal ultrastructures and immune deposits. hypocomplementemia is a characteristic feature of all types of mpgn." + }, + { + "input": "glomerulonephritis", + "output": "A nephritis that causes inflammation of the glomeruli located_in kidney." + }, + { + "input": "klippel-trenaunay syndrome", + "output": "A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues." + }, + { + "input": "newcastle disease", + "output": "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. the infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds." + }, + { + "input": "lacrimal gland carcinoma", + "output": "A carcinoma that arises from the lacrimal glands. representative examples include adenocarcinoma, carcinoma ex pleomorphic adenoma, squamous cell carcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma." + }, + { + "input": "aleutian mink disease", + "output": "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in aleutian mink disease virus. the infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia." + }, + { + "input": "chediak-higashi syndrome", + "output": "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (lyst) on chromosome 1q42." + }, + { + "input": "epstein-barr virus infectious disease", + "output": "A viral infectious disease that has_material_basis_in human gammaherpesvirus 4." + }, + { + "input": "lacrimal gland cancer", + "output": "Primary or metastatic malignant neoplasm affecting the lacrimal gland." + }, + { + "input": "bronchiolitis", + "output": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. it is caused by viruses and bacteria. the disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen." + }, + { + "input": "severe acute respiratory syndrome", + "output": "A coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in sars coronavirus (sars-cov), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. the infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia." + }, + { + "input": "eye carcinoma", + "output": "An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye." + }, + { + "input": "motion sickness", + "output": "Motion sickness" + }, + { + "input": "inner ear disease", + "output": "An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium." + }, + { + "input": "pulmonary tuberculosis", + "output": "A tuberculosis that is a contagious disease located_in lungs. the infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis." + }, + { + "input": "hyperimmunoglobulin syndrome", + "output": "A b cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others." + }, + { + "input": "mixed lacrimal gland cancer", + "output": "A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland." + }, + { + "input": "photosensitive trichothiodystrophy", + "output": "A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (uv) rays from sunlight." + }, + { + "input": "cockayne syndrome", + "output": "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development." + }, + { + "input": "periarthritis", + "output": "Enthesopathy, unspecified" + }, + { + "input": "bursitis", + "output": "Bursopathy, unspecified" + }, + { + "input": "pleomorphic adenoma carcinoma", + "output": "A carcinoma arising in a pre-existing pleomorphic adenoma. it most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. patients usually present with a history of a long-standing mass which recently had undergone rapid growth. the prognosis depends on the invasiveness of the malignant component. patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. invasive tumors are usually aggressive and are associated with recurrences and metastases." + }, + { + "input": "renal artery obstruction", + "output": "Ischemia and infarction of kidney" + }, + { + "input": "kidney cortex necrosis", + "output": "A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury." + }, + { + "input": "cystic kidney disease", + "output": "A kidney containing one or more cysts." + }, + { + "input": "primary hyperoxaluria", + "output": "A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones." + }, + { + "input": "carbohydrate metabolic disorder", + "output": "An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates." + }, + { + "input": "lacrimal gland adenocarcinoma", + "output": "A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "kidney papillary necrosis", + "output": "A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. damages to this area may hinder the kidney to concentrate urine resulting in polyuria. sloughed off necrotic tissue may block kidney pelvis or ureter. necrosis of multiple renal papillae can lead to kidney failure." + }, + { + "input": "perinephritis", + "output": "Inflammation of the connective and adipose tissues surrounding the kidney." + }, + { + "input": "anuria", + "output": "Absence of urine formation. it is usually associated with complete bilateral ureteral (ureter) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present." + }, + { + "input": "iga glomerulonephritis", + "output": "A glomerulonephritis characterized by build up of iga antibody in the glomerulus." + }, + { + "input": "familial mediterranean fever", + "output": "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the mefv gene, which encodes the protein pyrin." + }, + { + "input": "antiphospholipid syndrome", + "output": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin)." + }, + { + "input": "adenocarcinoma", + "output": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue." + }, + { + "input": "prostate neuroendocrine neoplasm", + "output": "A neoplasm with neuroendocrine differentiation that arises from the prostate gland." + }, + { + "input": "germ cell cancer", + "output": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells." + }, + { + "input": "mixed germ cell-sex cord neoplasm", + "output": "A biphasic neoplasm that arises from the ovary or the testis. it is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. it includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable." + }, + { + "input": "sertoli-leydig cell tumor", + "output": "A sex cord-gonadal stromal tumor characterized by variable proportions of sertoli cells, leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles." + }, + { + "input": "testicular cancer", + "output": "A male reproductive system cancer that is located_in the testicles." + }, + { + "input": "granulosa cell tumor", + "output": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma." + }, + { + "input": "female reproductive endometrioid cancer", + "output": "A female reproductive organ cancer that is characterized by a resemblance to endometrium." + }, + { + "input": "ovary neuroendocrine neoplasm", + "output": "An ovarian cancer that has_material_basis_in nuroendocrine cells." + }, + { + "input": "nipple benign neoplasm", + "output": "A breast benign neoplasm that is located_in the nipple." + }, + { + "input": "breast myoepithelial neoplasm", + "output": "A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane." + }, + { + "input": "breast ductal carcinoma", + "output": "A breast carcinoma that derives_from the lining of milk ducts." + }, + { + "input": "invasive ductal carcinoma", + "output": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated." + }, + { + "input": "breast neuroendocrine neoplasm", + "output": "A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system." + }, + { + "input": "lobular neoplasia", + "output": "A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast." + }, + { + "input": "breast granular cell tumor", + "output": "A breast cancer that is believed to arises_from schwann cells." + }, + { + "input": "li-fraumeni syndrome", + "output": "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata." + }, + { + "input": "intraductal breast benign neoplasm", + "output": "A breast benign neoplasm that is located_in the breast ducts." + }, + { + "input": "breast malignant phyllodes tumor", + "output": "A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. they tend to grow rapidly and present in middle-aged women (40s-50s)." + }, + { + "input": "breast sarcoma", + "output": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells." + }, + { + "input": "substance abuse", + "output": "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning." + }, + { + "input": "prostatic acinar adenocarcinoma", + "output": "An invasive adenocarcinoma of the prostate gland composed of secretory cells. it is the most common histologic type of prostate adenocarcinoma. several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants." + }, + { + "input": "acinar cell carcinoma", + "output": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells." + }, + { + "input": "colon mucinous adenocarcinoma", + "output": "An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. malignant glandular epithelial cells are present in the mucin collections. mucin constitutes more than 50% of the lesion." + }, + { + "input": "substance-related disorder", + "output": "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning." + }, + { + "input": "mucinous adenocarcinoma", + "output": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." + }, + { + "input": "submucosal invasive colon adenocarcinoma", + "output": "An adenocarcinoma of the colon that has invaded into the submucosa." + }, + { + "input": "cecum adenocarcinoma", + "output": "A cecum carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "allergic contact dermatitis", + "output": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." + }, + { + "input": "food allergy", + "output": "A hypersensitivity reaction type i disease that is an abnormal response to a food, triggered by the body's immune system." + }, + { + "input": "wissler-fanconi syndrome", + "output": "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset still\u2019s disease." + }, + { + "input": "churg-strauss syndrome", + "output": "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding." + }, + { + "input": "carcinoma", + "output": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "balkan nephropathy", + "output": "An interstitial nephritis endemic to the regions along the danube river, in the modern countries of croatia, bosnia and herzegovina, serbia, romania and bulgaria." + }, + { + "input": "paratyphoid fever", + "output": "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in salmonella enterica subsp enterica serovar paratyphi a, b or c, which are transmitted_by ingestion of contaminated food. the infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly." + }, + { + "input": "glioblastoma", + "output": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes." + }, + { + "input": "malignant astrocytoma", + "output": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord." + }, + { + "input": "high grade glioma", + "output": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine." + }, + { + "input": "gliosarcoma", + "output": "A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation." + }, + { + "input": "brain glioblastoma multiforme", + "output": "A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems." + }, + { + "input": "giant cell glioblastoma", + "output": "A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells." + }, + { + "input": "adult astrocytic tumor", + "output": "A malignant astrocytoma that occurs during adulthood." + }, + { + "input": "anaplastic astrocytoma", + "output": "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei." + }, + { + "input": "childhood astrocytic tumor", + "output": "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location." + }, + { + "input": "early myoclonic encephalopathy", + "output": "A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic." + }, + { + "input": "cystic lymphangioma", + "output": "A cystic growth originating from lymphatic tissue. it is usually found in the neck, axilla, or groin." + }, + { + "input": "interstitial lung disease", + "output": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough." + }, + { + "input": "chronic obstructive pulmonary disease", + "output": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (fev1) and the ratio of fev1 to forced vital capacity (less than 0.7 is diagnostic of copd). lung volume is increased and pulmonary hypertension may occur. the pathologic changes result in the disruption of the airflow in the bronchial airways. signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. copd is a consequence (an end result) of chronic bronchitis, emphysema or both." + }, + { + "input": "gingival overgrowth", + "output": "Gingival enlargement" + }, + { + "input": "gingivitis", + "output": "Acute gingivitis" + }, + { + "input": "granulomatous orchitis", + "output": "Granulomatous inflammation of the testis. it is characterized by the formation of granulomas around the seminiferous tubules. history of trauma may be present. it is assumed to be a reactive process due to autoimmune phenomena." + }, + { + "input": "acinetobacter infectious disease", + "output": "An opportunistic bacterial infectious disease that has_material_basis_in acinetobacter." + }, + { + "input": "nervous system cancer", + "output": "An organ system cancer located_in the nervous system that affects the central or peripheral nervous system." + }, + { + "input": "germ cell and embryonal cancer", + "output": "A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells." + }, + { + "input": "stenosis of lacrimal sac", + "output": "Stenosis of lacrimal sac" + }, + { + "input": "small cell sarcoma", + "output": "A sarcoma characterized by the presence of small cells, cells measuring 9-14 micrometers with a faint or indistinct rim of cytoplasm and an oval-to-elongated nucleus with relatively dense chromatin. (from segen, dictionary of modern medicine, 1992)" + }, + { + "input": "merrf syndrome", + "output": "Merrf syndrome" + }, + { + "input": "thoracic outlet syndrome", + "output": "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles." + }, + { + "input": "toxascariasis", + "output": "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with toxascaris leonina causing damage to the lining of the intestine. the symptoms include diarrhea, vomiting and loss of appetite." + }, + { + "input": "ascaridiasis", + "output": "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus ascaridia." + }, + { + "input": "idiopathic cd4-positive t-lymphocytopenia", + "output": "A lymphopenia that is caused by a reduction of cd4+ t lymphocytes." + }, + { + "input": "papillary cystadenocarcinoma", + "output": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections." + }, + { + "input": "cystadenocarcinoma", + "output": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed." + }, + { + "input": "papillary adenocarcinoma", + "output": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue." + }, + { + "input": "papillary carcinoma", + "output": "A carcinoma that is derives_from epithelial cells with finger like projections." + }, + { + "input": "serous cystadenocarcinoma", + "output": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." + }, + { + "input": "kidney benign neoplasm", + "output": "A benign or malignant, primary or metastatic neoplasm affecting the kidney and ureter." + }, + { + "input": "hepatobiliary benign neoplasm", + "output": "A gastrointestinal system benign neoplasm located_in the hepatobiliary system." + }, + { + "input": "hepatobiliary disease", + "output": "A gastrointestinal system disease that is located_in the liver and/or biliary tract." + }, + { + "input": "gastrointestinal system cancer", + "output": "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system." + }, + { + "input": "gallbladder papillomatosis", + "output": "A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue." + }, + { + "input": "gallbladder cancer", + "output": "A biliary tract cancer that is located_in the gallbladder." + }, + { + "input": "gastric outlet obstruction", + "output": "The hindering of output from the stomach into the small intestine. this obstruction may be of mechanical or functional origin such as edema from peptic ulcer; neoplasms; foreign bodies; or aging." + }, + { + "input": "multiple endocrine neoplasia", + "output": "A syndrome that is characterized by tumors in at least two endocrine glands." + }, + { + "input": "proctitis", + "output": "A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. sexually transmitted pathogens (neisseria gonorrhoeae, chlamydia trachomatis, herpes simplex virus 1 and 2, treponema pallidum) and enteric pathogens (campylobacter, shigella, salmonella) are involved in the disease. symptoms are rectal discomfort and bleeding." + }, + { + "input": "anus disease", + "output": "A rectal disease located_in the anus." + }, + { + "input": "porphyria cutanea tarda", + "output": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin." + }, + { + "input": "acute porphyria", + "output": "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis." + }, + { + "input": "facial dermatosis", + "output": "Skin diseases involving the face." + }, + { + "input": "scalp dermatosis", + "output": "Skin diseases involving the scalp." + }, + { + "input": "acanthosis nigricans", + "output": "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas." + }, + { + "input": "tenosynovial giant cell tumor", + "output": "A tumor usually arising in the synovium of joints, bursa or tendon sheath. it is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. according to the growth pattern, it is classified as localized or diffuse." + }, + { + "input": "scleredema adultorum", + "output": "A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions." + }, + { + "input": "mucinoses", + "output": "A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue." + }, + { + "input": "leg dermatosis", + "output": "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (from stedman, 25th ed)" + }, + { + "input": "cutis laxa", + "output": "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity." + }, + { + "input": "hyperlipoproteinemia type iii", + "output": "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the apoe gene on chromosome 19q13." + }, + { + "input": "lipid metabolism disorder", + "output": "An inherited metabolic disorder that involves the creation and degradation of lipids." + }, + { + "input": "keratoacanthoma", + "output": "A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. it occurs in solitary, multiple, and eruptive forms. the solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. the eruptive form usually involves both sexes and appears as a generalized papular eruption." + }, + { + "input": "synovium neoplasm", + "output": "A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath." + }, + { + "input": "skin squamous cell carcinoma", + "output": "A skin carcinoma that has_material_basis_in squamous cells." + }, + { + "input": "lipomatosis", + "output": "Lipomatosis, not elsewhere classified" + }, + { + "input": "hypomelanosis of ito", + "output": "A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation)." + }, + { + "input": "hand dermatosis", + "output": "Skin diseases involving the hands." + }, + { + "input": "photosensitivity disease", + "output": "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. it refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. with restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." + }, + { + "input": "malignant spindle cell melanoma", + "output": "A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles." + }, + { + "input": "skin benign neoplasm", + "output": "Tumors or cancer of the skin." + }, + { + "input": "squamous cell neoplasm", + "output": "A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities." + }, + { + "input": "papillary adenoma", + "output": "An adenoma characterized by the presence of papillary epithelial patterns." + }, + { + "input": "fallopian tube serous papilloma", + "output": "A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth." + }, + { + "input": "verrucous papilloma", + "output": "A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance." + }, + { + "input": "skin papilloma", + "output": "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk." + }, + { + "input": "inverted papilloma", + "output": "A mucosal tumor of the urinary bladder or nasal cavity in which proliferating epithelium is invaginated beneath the surface and is more smoothly rounded than in other papillomas. (stedman, 25th ed)" + }, + { + "input": "progressive muscular atrophy", + "output": "A rare, milder form of amyotrophic lateral sclerosis. it is characterized by a slowly progressive clinical course. signs and symptoms include muscle weakness, atrophy, and fasciculation." + }, + { + "input": "oligodendroglioma", + "output": "A well-differentiated (who grade ii), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. it is composed predominantly of cells which morphologically resemble oligodendroglia. the neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (adapted from who)" + }, + { + "input": "childhood oligodendroglioma", + "output": "An oligodendroglioma that arises from the central nervous system and occurs during childhood." + }, + { + "input": "spinal cord glioma", + "output": "A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells." + }, + { + "input": "adult oligodendroglioma", + "output": "An oligodendroglioma occurring during adulthood." + }, + { + "input": "brain oligodendroglioma", + "output": "A brain glioma that has_material_basis_in oligodendrocytes." + }, + { + "input": "spinal cord disease", + "output": "Disease of spinal cord, unspecified" + }, + { + "input": "nemaline myopathy", + "output": "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. the muscle cells contain abnormal clumps of threadlike material called nemaline bodies." + }, + { + "input": "neurilemmoma", + "output": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of schwann cells." + }, + { + "input": "peripheral nerve sheath neoplasm", + "output": "A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves." + }, + { + "input": "cellular schwannoma", + "output": "A neurilemmoma with a predominantly cellular growth but no verocay bodies." + }, + { + "input": "schwannoma of twelfth cranial nerve", + "output": "A neurilemmoma that is located_in the 12th cranial nerve." + }, + { + "input": "c-p angle neurinoma", + "output": "A schwannoma occurring in the cerebellopontine angle." + }, + { + "input": "vascular myelopathy", + "output": "Vascular myelopathies" + }, + { + "input": "cerebellopontine angle tumor", + "output": "A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle." + }, + { + "input": "sympathetic neurilemmoma", + "output": "A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus." + }, + { + "input": "neurilemmoma of the fifth cranial nerve", + "output": "A benign schwannoma occurring in the trigeminal nerve." + }, + { + "input": "macrocystic neurilemmoma", + "output": "The rarest histopathologic subtype of schwannoma. the reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and antoni a tissue." + }, + { + "input": "schwannomatosis", + "output": "A rasopathy characterized by the development of schwannomas or hybrid nerve sheath tumors." + }, + { + "input": "melanotic neurilemmoma", + "output": "A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. it is composed of cells with the immunophenotypic and electron microscopic features of schwann cells which contain melanosomes and are positive for melanoma markers. it usually involves spinal nerve roots but may occur in other locations. it may be associated with prkar1a gene mutation and carney complex. malignant behavior has been reported in a significant number of patients." + }, + { + "input": "plexiform schwannoma", + "output": "A schwannoma characterized by a plexiform or multinodular growth pattern. it usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck." + }, + { + "input": "junctional epidermolysis bullosa", + "output": "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin." + }, + { + "input": "tropical spastic paraparesis", + "output": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human t-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. the infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms." + }, + { + "input": "pelizaeus-merzbacher disease", + "output": "A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the plp1 gene on chromosome xq22." + }, + { + "input": "lysosomal storage disease", + "output": "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function." + }, + { + "input": "demyelinating disease", + "output": "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons." + }, + { + "input": "jejunal somatostatinoma", + "output": "A somatostatin-producing neuroendocrine tumor that arises from the jejunum. it is characterized by the presence of tubulo-glandular structures." + }, + { + "input": "jejunal neoplasm", + "output": "Tumors or cancer in the jejunum region of the small intestine (intestine, small)." + }, + { + "input": "myelitis", + "output": "A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord." + }, + { + "input": "causalgia", + "output": "A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (hyperesthesia) in the distribution of an injured peripheral nerve. autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (adams et al., principles of neurology, 6th ed, p1359)" + }, + { + "input": "complex regional pain syndrome", + "output": "Conditions characterized by pain involving an extremity or other body region, hyperesthesia, and localized autonomic dysfunction following injury to soft tissue or nerve. the pain is usually associated with erythema; skin temperature changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. the degree of pain and other manifestations is out of proportion to that expected from the inciting event. two subtypes of this condition have been described: type i; (reflex sympathetic dystrophy) and type ii; (causalgia). (from pain 1995 oct;63(1):127-33)" + }, + { + "input": "tracheal disease", + "output": "Fracture of other parts of neck" + }, + { + "input": "tracheal stenosis", + "output": "A pathological narrowing of the trachea." + }, + { + "input": "gastric dilatation", + "output": "Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation." + }, + { + "input": "high pressure neurological syndrome", + "output": "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. this condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. the condition is associated with a neuroexcitatory effect of helium." + }, + { + "input": "central nervous system lymphoma", + "output": "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system." + }, + { + "input": "aspiration pneumonitis", + "output": "A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. this syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. the disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration." + }, + { + "input": "lipid pneumonia", + "output": "An aspiration pneumonitis resulting from the aspiration of lipids. it is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. it is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent." + }, + { + "input": "embryonal rhabdomyosarcoma", + "output": "A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs." + }, + { + "input": "rhabdomyosarcoma", + "output": "A skeletal muscle cancer that arise from skeletal muscle progenitors." + }, + { + "input": "pleomorphic rhabdomyosarcoma", + "output": "An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. the tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities." + }, + { + "input": "prostate embryonal rhabdomyosarcoma", + "output": "A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone." + }, + { + "input": "prostate rhabdomyosarcoma", + "output": "A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate." + }, + { + "input": "embryonal extrahepatic bile duct rhabdomyosarcoma", + "output": "An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts." + }, + { + "input": "bile duct rhabdomyosarcoma", + "output": "A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct." + }, + { + "input": "botryoid rhabdomyosarcoma", + "output": "A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. it is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma." + }, + { + "input": "orbit embryonal rhabdomyosarcoma", + "output": "An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei." + }, + { + "input": "orbit rhabdomyosarcoma", + "output": "An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children." + }, + { + "input": "ischemia", + "output": "A vascular disease that is characterized by a restriction in blood supply to tissues." + }, + { + "input": "spindle cell rhabdomyosarcoma", + "output": "A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. in children it usually arises in the paratesticular region. in adults it usually arises from the deep soft tissues in the head and neck." + }, + { + "input": "hyper ige recurrent infection syndrome 1", + "output": "A hyper ige syndrome that has_material_basis_in heterozygous mutation in the stat3 gene on chromosome 17q21." + }, + { + "input": "phagocyte bactericidal dysfunction", + "output": "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection." + }, + { + "input": "piebaldism", + "output": "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the kit gene on chromosome 4q12." + }, + { + "input": "subacute leukemia", + "output": "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity." + }, + { + "input": "chronic granulomatous disease", + "output": "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed." + }, + { + "input": "mucinous ovarian cystadenoma", + "output": "An ovarian cystadenoma that is characterized by the presence of mucin." + }, + { + "input": "ovarian cystadenoma", + "output": "An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed." + }, + { + "input": "syringomyelia", + "output": "Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. the cavities are lined by dense, gliogenous tissue and may be associated with spinal cord neoplasms; spinal cord traumatic injuries; and vascular malformations. syringomyelia is marked clinically by pain and paresthesia, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). lower extremity spasticity and incontinence may also develop. (from adams et al., principles of neurology, 6th ed, p1269)" + }, + { + "input": "proliferative type fibrocystic change of breast", + "output": "A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia." + }, + { + "input": "thymoma", + "output": "A thymus cancer that derives_from epithelial cells located_in the thymus. the tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus." + }, + { + "input": "thymus cancer", + "output": "An immune system cancer located_in the thymus." + }, + { + "input": "encapsulated thymoma", + "output": "A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics." + }, + { + "input": "spindle cell thymoma", + "output": "A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. lymphocytic infiltration is minimal or absent. it may be associated with myasthenia gravis or pure red cell aplasia. the majority of cases occur in the anterior mediastinum as masaoka stage i tumors. approximately 20% of the cases occur as stage ii or stage iii tumors. type a thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years." + }, + { + "input": "mixed type thymoma", + "output": "A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type a thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. it may be associated with myasthenia gravis and pure red cell aplasia. the majority of cases occur in the anterior mediastinum as masaoka stage i tumors. a minority of the cases occur as stage ii or stage iii tumors. the overall survival is reported to be 80-100% at 5 and 10 years." + }, + { + "input": "thymoma type b", + "output": "A thymoma that is an epithelial neoplasm arising from the thymus. it may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia." + }, + { + "input": "invasive malignant thymoma", + "output": "A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues." + }, + { + "input": "thymic carcinoma", + "output": "A thymus cancer that derives_from epithelial cells. the tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found." + }, + { + "input": "mpox", + "output": "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." + }, + { + "input": "vaccinia", + "output": "A viral infectious disease that results_in infection, located_in skin, has_material_basis_in vaccinia virus, which is used as a live vaccine against smallpox. the virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. the infection has_symptom rash, has_symptom fever, and has_symptom body aches." + }, + { + "input": "gonadoblastoma", + "output": "A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells)." + }, + { + "input": "chordoma", + "output": "A notochordal cancer that derives_from cellular remnants of the notochord." + }, + { + "input": "notochordal cancer", + "output": "An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord." + }, + { + "input": "germinoma", + "output": "A germ cell cancer that lacks histologic differentiation. it usually refers to a tumor in the brain." + }, + { + "input": "teratocarcinoma", + "output": "A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both." + }, + { + "input": "mixed germ cell cancer", + "output": "A germ cell cancer that occurs in many forms." + }, + { + "input": "teratoma", + "output": "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers." + }, + { + "input": "embryonal carcinoma", + "output": "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes." + }, + { + "input": "neurodermatitis", + "output": "A dermatitis that is characterized by chronic itching or scaling." + }, + { + "input": "central nervous system disease", + "output": "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system." + }, + { + "input": "atopic dermatitis", + "output": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking." + }, + { + "input": "bipolar disorder", + "output": "A mood disorder that involves alternating periods of mania and depression." + }, + { + "input": "angiomyolipoma", + "output": "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells." + }, + { + "input": "lipoma", + "output": "A cell type benign neoplasm that is composed of lipocytes." + }, + { + "input": "perivascular tumor", + "output": "A malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. it is characterized by the presence of pericytes that grow in a circumferential pattern around vessels, and cytologic atypia." + }, + { + "input": "hepatic angiomyolipoma", + "output": "An angiomyolipoma arising from the liver." + }, + { + "input": "lymphangioleiomyomatosis", + "output": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas." + }, + { + "input": "amyotrophic lateral sclerosis", + "output": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing." + }, + { + "input": "tay-sachs disease", + "output": "A gm2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase a gene (hexa) on chromosome 15q23." + }, + { + "input": "gm2 gangliosidosis", + "output": "A gangliosidosis that is characterized by excessive accumulation of ganglioside gm2 and related glycolipids in the lysosomes." + }, + { + "input": "gm1 gangliosidosis", + "output": "A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (glb1) resulting in build up of gm1 ganglioside." + }, + { + "input": "sandhoff disease", + "output": "A gm2 gangliosidosis that is characterized by an accumulation of gm2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (hexb) on chromosome 5q13." + }, + { + "input": "mood disorder", + "output": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature." + }, + { + "input": "hyperglobulinemic purpura", + "output": "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. this syndrome often occurs on the legs of women aged 20 to 40 years." + }, + { + "input": "purpura", + "output": "Other nonthrombocytopenic purpura" + }, + { + "input": "partial motor epilepsy", + "output": "A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles." + }, + { + "input": "temporal lobe epilepsy", + "output": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes." + }, + { + "input": "benign epilepsy with centrotemporal spikes", + "output": "A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves." + }, + { + "input": "partial sensory epilepsy", + "output": "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial)." + }, + { + "input": "frontal lobe epilepsy", + "output": "A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain." + }, + { + "input": "haemonchiasis", + "output": "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue." + }, + { + "input": "histrionic personality disorder", + "output": "A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood." + }, + { + "input": "osteitis fibrosa", + "output": "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone." + }, + { + "input": "bone inflammation disease", + "output": "A bone disease that results_in inflammation of the located_in bone." + }, + { + "input": "glycoproteinosis", + "output": "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-n -acetyl neuraminidase (sialidase)." + }, + { + "input": "xanthomatosis", + "output": "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts." + }, + { + "input": "osteosarcoma", + "output": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin." + }, + { + "input": "mesenchymal cell neoplasm", + "output": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system." + }, + { + "input": "bone angioendothelial sarcoma", + "output": "A high-grade malignant vascular neoplasm that arises from the bone. it is characterized by the presence of neoplastic cells with endothelial differentiation." + }, + { + "input": "malignant fibrous histiocytoma of bone", + "output": "A rare, high-grade pleomorphic malignant neoplasm arising from the bone. it usually presents with pain which may or may not be associated with swelling in the affected area. it is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. the neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. it metastasizes frequently, most often in the lungs." + }, + { + "input": "fibrosarcoma of bone", + "output": "A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker." + }, + { + "input": "fibrosarcoma", + "output": "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern." + }, + { + "input": "localized osteosarcoma", + "output": "A non-disseminated osteosarcoma." + }, + { + "input": "extraosseous osteosarcoma", + "output": "An osteosarcoma arising from the soft tissue." + }, + { + "input": "multifocal osteogenic sarcoma", + "output": "A primary bone osteosarcoma affecting multiple bone sites." + }, + { + "input": "childhood osteosarcoma", + "output": "An osteosarcoma occurring in childhood." + }, + { + "input": "coronary aneurysm", + "output": "Coronary artery aneurysm" + }, + { + "input": "bone leiomyosarcoma", + "output": "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. it is characterized by a proliferation of neoplastic spindle cells." + }, + { + "input": "ewing sarcoma of bone", + "output": "A peripheral primitive neuroectodermal tumor that is located_in bone." + }, + { + "input": "ewing sarcoma", + "output": "A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm." + }, + { + "input": "chondrosarcoma", + "output": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage." + }, + { + "input": "chondroblastic osteosarcoma", + "output": "An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. it may or may not be associated with the presence of myxoid areas or focal bone formation." + }, + { + "input": "parosteal osteosarcoma", + "output": "A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. it occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (stedman, 25th ed)" + }, + { + "input": "peripheral osteosarcoma", + "output": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone." + }, + { + "input": "bone osteosarcoma", + "output": "A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. it may arise de novo or from a pre-existing lesion of the bone. pain and a palpable mass are the most frequent clinical sign and symptom. it may spread to other anatomic sites, particularly the lungs." + }, + { + "input": "small cell osteogenic sarcoma", + "output": "An osteosarcoma usually arising from the metaphysis of long bones. it is characterized by the presence of small cells and osteoid production. the prognosis is usually unfavorable." + }, + { + "input": "metachronous osteosarcoma of the bone", + "output": "A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites." + }, + { + "input": "liposarcoma of bone", + "output": "A very rare malignant adipose tissue neoplasm that arises from the bone." + }, + { + "input": "liposarcoma", + "output": "A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities." + }, + { + "input": "bacterial vaginosis", + "output": "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of gardnerella vaginalis." + }, + { + "input": "periodontal disease", + "output": "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth." + }, + { + "input": "papillon-lefevre disease", + "output": "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin c gene on chromosome 11q14." + }, + { + "input": "accessory nerve disease", + "output": "A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve)." + }, + { + "input": "palmoplantar keratosis", + "output": "A keratosis characterized by abnormal thickening of the palms and the soles." + }, + { + "input": "coronary artery disease", + "output": "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." + }, + { + "input": "inappropriate adh syndrome", + "output": "A pituitary gland disease resulting from excessive production of antidiuretic hormone (adh)." + }, + { + "input": "histiocytosis", + "output": "A lymphatic system disease that is characterized by an excessive number of histiocytes." + }, + { + "input": "carotid artery disease", + "output": "Pathological conditions involving the carotid arteries, including the common, internal, and external carotid arteries. atherosclerosis and trauma are relatively frequent causes of carotid artery pathology." + }, + { + "input": "peripheral vascular disease", + "output": "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain." + }, + { + "input": "carotid artery thrombosis", + "output": "Blood clot formation in any part of the carotid arteries. this may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax." + }, + { + "input": "alpha-mannosidosis", + "output": "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-d-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome." + }, + { + "input": "glossopharyngeal nerve disease", + "output": "A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla." + }, + { + "input": "optic nerve neoplasm", + "output": "Benign and malignant neoplasms that arise from the optic nerve or its sheath. optic nerve glioma is the most common histologic type. optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." + }, + { + "input": "vestibular disease", + "output": "An inner ear disease that is located in the vestibular system." + }, + { + "input": "inclusion body myositis", + "output": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle." + }, + { + "input": "cerebritis", + "output": "A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition." + }, + { + "input": "viral laryngitis", + "output": "A acute laryngitis which is caused by viral infection." + }, + { + "input": "laryngitis", + "output": "A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption." + }, + { + "input": "mammary paget's disease", + "output": "A breast adenocarcinoma that has_material_basis_in epidermal paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus." + }, + { + "input": "scrotum paget's disease", + "output": "A rare form of paget disease that arises from the scrotum. it is usually not associated with an underlying malignancy. it presents as a red plaque or raised lesion. microscopically, it is characterized by the presence of the typical paget cells which are large, round cells with abundant cytoplasm and prominent nuclei." + }, + { + "input": "scrotal carcinoma", + "output": "A carcinoma occurring in the scrotum." + }, + { + "input": "anal paget's disease", + "output": "A slowly spreading, erythematous eczematoid plaque in the anal region. histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. the other half of the cases, have a high local recurrence rate and they may become invasive (who)." + }, + { + "input": "anus adenocarcinoma", + "output": "An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin." + }, + { + "input": "penis paget's disease", + "output": "A rare, slow-growing, usually non-invasive intraepithelial adenocarcinoma affecting the penile skin or mucosal surface. the malignant cells are large with abundant pale cytoplasm and vesicular nuclei with prominent nucleoli. (who 2016)" + }, + { + "input": "penis carcinoma", + "output": "A penile cancer that is located_in the skin or tissues of the penis." + }, + { + "input": "uterine disease", + "output": "A female reproductive system disease that is located_in the uterus." + }, + { + "input": "cutaneous paget's disease", + "output": "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli." + }, + { + "input": "skin carcinoma", + "output": "A skin cancer that is located_in tissues of the skin and develops from epithelial cells." + }, + { + "input": "brain infarction", + "output": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain." + }, + { + "input": "cervix erosion", + "output": "A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix." + }, + { + "input": "invasive lobular carcinoma", + "output": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated." + }, + { + "input": "breast adenocarcinoma", + "output": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast." + }, + { + "input": "breast carcinoma", + "output": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "breast disease", + "output": "A thoracic disease that is located_in the breast." + }, + { + "input": "iris cancer", + "output": "Tumors of the iris characterized by increased pigmentation of melanocytes. iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. malignant melanoma of the iris often originates from preexisting nevi." + }, + { + "input": "uveal cancer", + "output": "An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. the uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes." + }, + { + "input": "blepharochalasis", + "output": "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins." + }, + { + "input": "uveal disease", + "output": "An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid." + }, + { + "input": "septicemic plague", + "output": "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." + }, + { + "input": "plague", + "output": "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in yersinia pestis, which is transmitted_by oriental rat flea (xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food." + }, + { + "input": "necrobiosis lipoidica", + "output": "A degenerative disease of the dermal connective tissue characterized by the development of erythematous papules or nodules in the pretibial area. the papules form plaques covered with telangiectatic vessels. more than half of the affected patients have diabetes." + }, + { + "input": "cellulitis", + "output": "A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion." + }, + { + "input": "systemic mastocytosis", + "output": "Systemic mastocytosis" + }, + { + "input": "noonan syndrome", + "output": "A rasopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms." + }, + { + "input": "turner syndrome", + "output": "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered x chromosome." + }, + { + "input": "mixed connective tissue disease", + "output": "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen." + }, + { + "input": "signet ring cell adenocarcinoma", + "output": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance." + }, + { + "input": "bile duct signet ring cell carcinoma", + "output": "An adenocarcinoma that arises from the extrahepatic bile ducts. it is characterized by the presence of signet ring malignant epithelial cells." + }, + { + "input": "extrahepatic bile duct adenocarcinoma", + "output": "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "pancreatic signet ring cell adenocarcinoma", + "output": "A rare pancreatic ductal adenocarcinoma with poor prognosis. it is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern." + }, + { + "input": "pancreatic ductal adenocarcinoma", + "output": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells." + }, + { + "input": "gallbladder signet ring cell adenocarcinoma", + "output": "An adenocarcinoma that arises from the gallbladder. it is characterized by the presence of signet ring malignant epithelial cells." + }, + { + "input": "mastocytosis", + "output": "Other mast cell neoplasms of uncertain behavior" + }, + { + "input": "gallbladder adenocarcinoma", + "output": "A gallbladder carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "ampullary signet ring cell adenocarcinoma", + "output": "An adenocarcinoma arising from the ampulla of vater. morphologically, it is characterized by the presence of mucin-containing signet-ring cells." + }, + { + "input": "ampulla of vater adenocarcinoma", + "output": "An ampulla of vater carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "breast signet ring cell adenocarcinoma", + "output": "A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins." + }, + { + "input": "prostate signet ring cell adenocarcinoma", + "output": "A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells." + }, + { + "input": "dermatofibrosarcoma protuberans", + "output": "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly." + }, + { + "input": "neurofibrosarcoma", + "output": "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. the most common primary sites are the extremities, retroperitoneum, and trunk. these tumors tend to present in childhood, often in association with neurofibromatosis 1. (from devita et al., cancer: principles & practice of oncology, 5th ed, p1662; mayo clin proc 1990 feb;65(2):164-72)" + }, + { + "input": "adult fibrosarcoma", + "output": "A malignant mesenchymal neoplasm composed of fibroblasts. it is characterized by collagen production and a herringbone architectural pattern. it is more commonly seen in middle-aged and older adults. it usually affects the deep soft tissues of extremities, trunk, head and neck. adult fibrosarcomas may recur and metastasize to the lungs and bones." + }, + { + "input": "conventional fibrosarcoma", + "output": "A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern." + }, + { + "input": "childhood fibrosarcoma", + "output": "A malignant neoplasm arising from the deep soft tissues in children. it is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." + }, + { + "input": "lateral medullary syndrome", + "output": "A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral horner's syndrome." + }, + { + "input": "brain stem infarction", + "output": "A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal." + }, + { + "input": "middle cerebral artery infarction", + "output": "Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." + }, + { + "input": "cerebral infarction", + "output": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain." + }, + { + "input": "cerebral arterial disease", + "output": "Pathological conditions of intracranial arteries supplying the cerebrum. these diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery." + }, + { + "input": "anterior cerebral artery infarction", + "output": "Necrosis occurring in the anterior cerebral artery system, including branches such as heubner's artery. these arteries supply blood to the medial and superior parts of the cerebral hemisphere, infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." + }, + { + "input": "congenital myopathy 1a", + "output": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (ryr1) on chromosome 19q13. heterozygous mutation in the ryr1 gene also causes susceptibility to malignant hyperthermia-1 (mhs1), patients with cmyp1a are at risk for mhs. biallelic mutations in the ryr1 gene cause autosomal recessive cmyp1b, which shows overlapping features, but is typically more severe." + }, + { + "input": "chronic wasting disease", + "output": "A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. it is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions)." + }, + { + "input": "lafora disease", + "output": "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either nhlrc1 on chromosome 6p22.3 or epm2a on chromosome 6q24.3." + }, + { + "input": "unverricht-lundborg syndrome", + "output": "A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline." + }, + { + "input": "choroid plexus cancer", + "output": "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain." + }, + { + "input": "cerebral ventricle cancer", + "output": "A cerebrum cancer that is located_in the cerebral ventricles." + }, + { + "input": "adult choroid plexus cancer", + "output": "A neoplasm of the choroid plexus occurring in adults." + }, + { + "input": "atypical choroid plexus papilloma", + "output": "A choroid plexus papilloma characterized by increased mitotic activity." + }, + { + "input": "childhood choroid plexus cancer", + "output": "A neoplasm that arises from the choroid plexus in the brain and occurs during childhood." + }, + { + "input": "mast-cell sarcoma", + "output": "A sarcoma that has_material_basis_in mast cells." + }, + { + "input": "superior mesenteric artery syndrome", + "output": "A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery." + }, + { + "input": "duodenal obstruction", + "output": "Obstruction of duodenum" + }, + { + "input": "pseudomyxoma peritonei", + "output": "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis." + }, + { + "input": "meningioma", + "output": "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." + }, + { + "input": "liver cancer", + "output": "A hepatobiliary system cancer that is located_in the liver." + }, + { + "input": "intracranial sinus thrombosis", + "output": "Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects." + }, + { + "input": "lateral sinus thrombosis", + "output": "Formation or presence of a blood clot (thrombus) in the lateral sinuses. this condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. in developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. clinical features include headache; vertigo; and increased intracranial pressure." + }, + { + "input": "cavernous sinus thrombosis", + "output": "Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. clinical manifestations include dysfunction of cranial nerves iii, iv, v, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (from adams et al., principles of neurology, 6th ed, p711)" + }, + { + "input": "sagittal sinus thrombosis", + "output": "Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. severe cases can evolve to seizures or coma." + }, + { + "input": "sertoli cell tumor", + "output": "A sex cord-gonadal stromal tumor characterized by excessive proliferation of sertoli cells." + }, + { + "input": "ovarian gonadoblastoma", + "output": "An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements." + }, + { + "input": "testicular gonadoblastoma", + "output": "A testicular mixed germ cell-sex cord-stromal tumor. it is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. it is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble sertoli cells." + }, + { + "input": "pancreatic ductal carcinoma", + "output": "A pancreatic carcinoma located_in the pancreatic duct." + }, + { + "input": "gestational trophoblastic neoplasm", + "output": "Hydatidiform mole" + }, + { + "input": "epithelioid trophoblastic tumor", + "output": "A gestational trophoblastic tumor characterized by the presence of a monomorphous cellular population of intermediate trophoblastic cells infiltrating in a nodular pattern." + }, + { + "input": "choriocarcinoma", + "output": "A placenta cancer that has_material_basis_in trophoblastic cells." + }, + { + "input": "placental site trophoblastic tumor", + "output": "A choriocarcinoma that is characterized by low beta-hcg levels and arises from neoplastic transformation of intermediate trophoblastic cells." + }, + { + "input": "toxic encephalopathy", + "output": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems." + }, + { + "input": "mucinous cystadenocarcinoma", + "output": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells." + }, + { + "input": "ovarian mucinous cystadenocarcinoma", + "output": "An ovarian cystadenocarcinoma that is characterized by the presence of mucin." + }, + { + "input": "ovarian cystadenocarcinoma", + "output": "An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces." + }, + { + "input": "ovarian mucinous adenocarcinoma", + "output": "An ovary adenocarcinoma that is characterized by the presence of mucin." + }, + { + "input": "appendix mucinous cystadenocarcinoma", + "output": "An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures." + }, + { + "input": "appendix adenocarcinoma", + "output": "An appendix carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "breast mucinous cystadenocarcinoma", + "output": "A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin." + }, + { + "input": "cervix endometriosis", + "output": "A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix." + }, + { + "input": "breast mucinous carcinoma", + "output": "A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout." + }, + { + "input": "acute retinal necrosis syndrome", + "output": "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." + }, + { + "input": "retinitis", + "output": "Unspecified chorioretinal inflammation" + }, + { + "input": "canavan disease", + "output": "A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. aspartoacylase deficiency leads to an accumulation of n-acetylaspartate in astrocytes. inheritance may be autosomal recessive or the illness may occur sporadically. this illness occurs more frequently in individuals of ashkenazic jewish descent. the neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. the infantile form features developmental delay, dyskinesias, hypotonia, spasticity, blindness, and megalencephaly. the juvenile form is characterized by ataxia; optic atrophy; and dementia. (from adams et al., principles of neurology, 6th ed, p944; am j med genet 1988 feb;29(2):463-71)" + }, + { + "input": "kallmann syndrome", + "output": "A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia)." + }, + { + "input": "infiltrating angiolipoma", + "output": "An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue." + }, + { + "input": "angiolipoma", + "output": "A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma." + }, + { + "input": "epidural spinal canal angiolipoma", + "output": "An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal." + }, + { + "input": "epidural spinal canal neoplasm", + "output": "Neoplasms located in the space between the vertebral periosteum and dura mater surrounding the spinal cord. tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." + }, + { + "input": "central nervous system cancer", + "output": "A nervous system cancer that is located_in the central nervous system." + }, + { + "input": "aortic aneurysm", + "output": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size." + }, + { + "input": "uterine cancer", + "output": "A female reproductive organ cancer that is located_in the uterus." + }, + { + "input": "beta-mannosidosis", + "output": "A lysosomal storage disease that has_material_basis_in deficiency of the beta-a-manosidase enzyme resulting in the disruption of n-linked glycoprotein oligosaccharide catabolism." + }, + { + "input": "congenital myasthenic syndrome", + "output": "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic)." + }, + { + "input": "childhood spinal cord tumor", + "output": "A benign or malignant neoplasm affecting the spinal cord during childhood." + }, + { + "input": "central nervous system teratoma", + "output": "A teratoma that is located_in the central nervous system." + }, + { + "input": "empty sella syndrome", + "output": "A condition when the sella turcica is not filled with pituitary tissue. the pituitary gland is either compressed, atrophied, or removed. there are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of pituitary neoplasms." + }, + { + "input": "sella turcica neoplasm", + "output": "A benign or malignant neoplasm that occurs in the sellar region. representative examples include craniopharyngioma and pituitary gland adenoma." + }, + { + "input": "hypothalamic neoplasm", + "output": "Benign and malignant tumors of the hypothalamus. pilocytic astrocytomas and hamartomas are relatively frequent histologic types. neoplasms of the hypothalamus frequently originate from adjacent structures, including the optic chiasm, optic nerve (see optic nerve neoplasms), and pituitary gland (see pituitary neoplasms). relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (from devita et al., cancer: principles and practice of oncology, 5th ed, p2051)" + }, + { + "input": "necrosis of pituitary", + "output": "Ischemic or hemorrhagic necrosis of the pituitary gland." + }, + { + "input": "pyruvate decarboxylase deficiency", + "output": "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex." + }, + { + "input": "bladder disease", + "output": "A urinary system disease that is located_in the bladder." + }, + { + "input": "lactic acidosis", + "output": "A metabolic acidosis characterized by buildup of lactate." + }, + { + "input": "pyruvate carboxylase deficiency disease", + "output": "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the pc gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis." + }, + { + "input": "leigh disease", + "output": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity." + }, + { + "input": "sialuria", + "output": "A lysosomal storage disease characterized by increased sialic acid in the urine." + }, + { + "input": "wheat allergy", + "output": "A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis." + }, + { + "input": "cutaneous mastocytosis", + "output": "Cutaneous mastocytosis" + }, + { + "input": "mast cell neoplasm", + "output": "A hematologic cancer that has_material_basis_in mast cells." + }, + { + "input": "diffuse cutaneous mastocytosis", + "output": "Cutaneous mastocytosis" + }, + { + "input": "solitary mastocytoma of the skin", + "output": "A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter." + }, + { + "input": "intermittent claudication", + "output": "Peripheral vascular disease, unspecified" + }, + { + "input": "olfactory nerve disease", + "output": "A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell." + }, + { + "input": "pericoronitis", + "output": "Inflammation of the gingiva surrounding the crown of a tooth." + }, + { + "input": "rhabdoid cancer", + "output": "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system." + }, + { + "input": "kidney rhabdoid cancer", + "output": "A embryonal cancer that is located in the kidney." + }, + { + "input": "childhood kidney cancer", + "output": "A kidney neoplasm that occurs in children." + }, + { + "input": "pulmonary plasma cell granuloma", + "output": "A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue." + }, + { + "input": "cerebrum cancer", + "output": "A supratentorial cancer that is located_in the cerebrum." + }, + { + "input": "lung benign neoplasm", + "output": "Tumors or cancer of the lung." + }, + { + "input": "melas syndrome", + "output": "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including mt-tl1, which encodes trna proteins." + }, + { + "input": "plexopathy", + "output": "A disorder affecting a network of nerves, blood vessels, or lymph vessels." + }, + { + "input": "brachial plexus neuritis", + "output": "A brachial plexus neuropathy that affects the chest, shoulder, arm and hand." + }, + { + "input": "olfactory neuroblastoma", + "output": "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. it is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., siadh, cushing syndrome). it has a high propensity for multiple local recurrences and bony metastases. (from holland et al., cancer medicine, 3rd ed, p1245; j laryngol otol 1998 jul;112(7):628-33)" + }, + { + "input": "brachial plexus neuropathy", + "output": "A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves." + }, + { + "input": "anal colloid adenocarcinoma", + "output": "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid." + }, + { + "input": "anal canal adenocarcinoma", + "output": "An anal canal cancer that derives_from epithelial cells of glandular origin." + }, + { + "input": "ampulla of vater mucinous adenocarcinoma", + "output": "A carcinoma with glandular differentiation arising from the ampulla of vater. morphologically, it is characterized by the presence of mucoid stroma formation." + }, + { + "input": "acute sanguinous otitis media", + "output": "A acute transudative otitis media which involves bloody effusion." + }, + { + "input": "acute transudative otitis media", + "output": "A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course." + }, + { + "input": "bile duct mucinous adenocarcinoma", + "output": "An adenocarcinoma that arises from the extrahepatic bile ducts. it is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor." + }, + { + "input": "uterine ligament mucinous adenocarcinoma", + "output": "A uterine ligament adenocarcinoma that produces mucin." + }, + { + "input": "skin disease", + "output": "An integumentary system disease that is located_in skin." + }, + { + "input": "malignant olfactory nerve neoplasm", + "output": "Malignant neoplasm of olfactory nerve" + }, + { + "input": "uterine ligament adenocarcinoma", + "output": "A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue." + }, + { + "input": "cervical mucinous adenocarcinoma", + "output": "A cervical adenocarcinoma that derives_from mucin producing epithelial cells." + }, + { + "input": "cervical adenocarcinoma", + "output": "A cervix carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "prostate colloid adenocarcinoma", + "output": "A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure." + }, + { + "input": "fallopian tube mucinous adenocarcinoma", + "output": "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." + }, + { + "input": "fallopian tube mucinous tumor", + "output": "A fallopian tube benign neoplasm that produces mucin." + }, + { + "input": "fallopian tube adenocarcinoma", + "output": "A fallopian tube carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "endometrial mucinous adenocarcinoma", + "output": "An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin." + }, + { + "input": "rectum mucinous adenocarcinoma", + "output": "A rectal adenocarcinoma that produces mucin." + }, + { + "input": "extracranial neuroblastoma", + "output": "A neuroblastoma arising from an anatomic site other than the brain." + }, + { + "input": "bladder colloid adenocarcinoma", + "output": "A rare primary adenocarcinoma of the bladder. histologically it is characterized by malignant cells floating in pools of mucin." + }, + { + "input": "bladder adenocarcinoma", + "output": "A bladder carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "ovary adenocarcinoma", + "output": "An ovarian carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "mucinous stomach adenocarcinoma", + "output": "A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools." + }, + { + "input": "gastric adenocarcinoma", + "output": "A stomach carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "extramedullary plasmacytoma", + "output": "Extramedullary plasmacytoma" + }, + { + "input": "plasmacytoma", + "output": "Solitary plasmacytoma" + }, + { + "input": "solitary osseous plasmacytoma", + "output": "A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. the most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. x-rays examination reveals a solitary lytic lesion." + }, + { + "input": "solitary plasmacytoma of chest wall", + "output": "A solitary plasmacytoma that arises from the chest wall." + }, + { + "input": "acute allergic sanguinous otitis media", + "output": "A acute sanguinous otitis media caused by an allergen." + }, + { + "input": "theileriasis", + "output": "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa theileria, which is transmitted by ixodid ticks." + }, + { + "input": "verrucous carcinoma", + "output": "A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium." + }, + { + "input": "nutrition disease", + "output": "An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods." + }, + { + "input": "vulva verrucous carcinoma", + "output": "A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions." + }, + { + "input": "bladder verrucous squamous cell carcinoma", + "output": "A rare variant of well differentiated squamous cell carcinoma, usually associated with bladder schistosomiasis." + }, + { + "input": "bladder squamous cell carcinoma", + "output": "A carcinoma of bladder that is manifested in squamous cells of the bladder." + }, + { + "input": "cervical verrucous carcinoma", + "output": "A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. it shows no more than minimal nuclear atypia and does not exhibit infiltrative growth." + }, + { + "input": "cervical squamous cell carcinoma", + "output": "A cervix carcinoma that has_material_basis_in squamous cells of the cervix." + }, + { + "input": "esophagus verrucous carcinoma", + "output": "A rare variant of esophageal squamous cell carcinoma. it is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. this variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (who)" + }, + { + "input": "esophagus squamous cell carcinoma", + "output": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." + }, + { + "input": "urethral verrucous carcinoma", + "output": "A verrucous carcinoma arising from the urethra." + }, + { + "input": "urethra squamous cell carcinoma", + "output": "A cancer of urethra that shows squamous cell differentiation." + }, + { + "input": "larynx verrucous carcinoma", + "output": "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. it is an exophytic, warty, and slow growing tumor affecting predominantly older men. it is associated with tobacco smoking. symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. if left untreated, it may cause extensive local destruction." + }, + { + "input": "hermansky-pudlak syndrome", + "output": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin." + }, + { + "input": "antithrombin iii deficiency", + "output": "A thrombophilia that is characterized by the tendency to form clots in the veins." + }, + { + "input": "protein c deficiency", + "output": "A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the proc gene on chromosome 2q14." + }, + { + "input": "cytochrome-c oxidase deficiency disease", + "output": "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and leigh syndrome, and is caused by mutations related to oxidative phosphorylation." + }, + { + "input": "hermaphroditism", + "output": "An organism having both male and female sexual characteristics and organs." + }, + { + "input": "denys-drash syndrome", + "output": "A syndrome that is characterized by the association of diffuse mesangial sclerosis (dms), male pseudohermaphroditism with a 46,xy karyotype, and nephroblastoma that derives_from an abnormality in the wt1 gene (wilms' tumor suppressor gene)." + }, + { + "input": "pseudohermaphroditism", + "output": "Indeterminate sex and pseudohermaphroditism" + }, + { + "input": "leukorrhea", + "output": "A vaginal discharge that is characterized by a whitish or yellow color." + }, + { + "input": "vaginal discharge", + "output": "A vaginal disease that is characterized by the presence of discharge." + }, + { + "input": "pulmonary fibrosis", + "output": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation." + }, + { + "input": "intraventricular meningioma", + "output": "A meningioma that affects the ventricles of the brain." + }, + { + "input": "chordoid glioma", + "output": "A high grade glioma that is characterized by the presence of epithelioid cells which express gfap, and mucinous stroma which contains lymphoplasmacytic infiltrates." + }, + { + "input": "granuloma annulare", + "output": "Granuloma annulare" + }, + { + "input": "anovulation", + "output": "An ovarian disease that is characterized by the absence of ovulation." + }, + { + "input": "coffin-lowry syndrome", + "output": "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the rsk2 gene on chromosome xp22." + }, + { + "input": "external ear disease", + "output": "An auditory system disease that is located_in the external ear." + }, + { + "input": "pleural empyema", + "output": "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. the symptoms include cough, fever, chest pain, sweating and shortness of breath." + }, + { + "input": "crigler-najjar syndrome", + "output": "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)." + }, + { + "input": "porokeratosis", + "output": "Disseminated superficial actinic porokeratosis (dsap)" + }, + { + "input": "epidural spinal canal meningioma", + "output": "A meningioma that arises in the epidural spinal canal space." + }, + { + "input": "arthropathy", + "output": "A bone disease that is located_in the joint." + }, + { + "input": "central nervous system chondroma", + "output": "An extraskeletal chondroma usually arising from the dura." + }, + { + "input": "soft tissue chondroma", + "output": "A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. it is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification." + }, + { + "input": "cranial nerve palsy", + "output": "A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve." + }, + { + "input": "photoallergic dermatitis", + "output": "An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema." + }, + { + "input": "toxicodendron dermatitis", + "output": "An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type iv hypersensitivity reaction." + }, + { + "input": "posterior cerebral artery infarction", + "output": "Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia)." + }, + { + "input": "shwartzman phenomenon", + "output": "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. the acute inflammation damages the small blood vessels. the following intravascular coagulation leads to capillary and venous thrombosis and necrosis. shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow." + }, + { + "input": "congenital diaphragmatic hernia", + "output": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs." + }, + { + "input": "chromophobe adenoma", + "output": "A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." + }, + { + "input": "pituitary adenoma", + "output": "A pituitary gland benign neoplasm that derives_from glandular epithelial cells." + }, + { + "input": "wolff-parkinson-white syndrome", + "output": "Pre-excitation syndrome" + }, + { + "input": "craniopharyngioma", + "output": "A benign pituitary-region neoplasm that originates from rathke's pouch. the two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. the adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. the cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (from joynt, clinical neurology, 1998, ch14, p50)" + }, + { + "input": "skull base cancer", + "output": "Neoplasms of the base of the skull specifically, differentiated from neoplasms of unspecified sites or bones of the skull (skull neoplasms)." + }, + { + "input": "adamantinous craniopharyngioma", + "output": "A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (adapted from who)" + }, + { + "input": "papillary craniopharyngioma", + "output": "A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. this variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (adapted from who)" + }, + { + "input": "hemangiopericytic tumor", + "output": "A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern." + }, + { + "input": "peutz-jeghers syndrome", + "output": "An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase stk11 gene on chromosome 19p13." + }, + { + "input": "seminal vesicle tumor", + "output": "A benign or malignant neoplasm that affects the seminal vesicle. representative examples include cystadenoma and adenocarcinoma." + }, + { + "input": "male reproductive organ cancer", + "output": "A reproductive organ cancer that is manifested in the male genital system. this includes organs such as the penis and scrotum." + }, + { + "input": "large cell medulloblastoma", + "output": "A medulloblastoma that is characterized by cells that are larger than would be normally expected." + }, + { + "input": "cerebellar vermis medulloblastoma", + "output": "A medulloblastoma arising from the vermis of the cerebellum." + }, + { + "input": "medullomyoblastoma", + "output": "A rare malignant embryonal neoplasm arising from the cerebellum. it is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. its clinical behavior is similar to medulloblastoma." + }, + { + "input": "adult medulloblastoma", + "output": "A medulloblastoma occurring in adults." + }, + { + "input": "adult central nervous system embryonal tumor", + "output": "A central nervous system embryonal tumor that occurs in adults." + }, + { + "input": "melanotic medulloblastoma", + "output": "A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. it usually has an unfavorable clinical course." + }, + { + "input": "childhood medulloblastoma", + "output": "A medulloblastoma occurring in children." + }, + { + "input": "childhood central nervous system embryonal tumor", + "output": "A central nervous system embryonal tumor that occurs in childhood." + }, + { + "input": "desmoplastic/nodular medulloblastoma", + "output": "A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network." + }, + { + "input": "thrombophlebitis", + "output": "A phlebitis that results from a blood clot in the vessel." + }, + { + "input": "colonic pseudo-obstruction", + "output": "Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. when this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called ogilvie's syndrome." + }, + { + "input": "functional colonic disease", + "output": "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. the widely recognized irritable bowel syndrome falls into this category." + }, + { + "input": "lynch syndrome", + "output": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers." + }, + { + "input": "acute intermittent porphyria", + "output": "An autosomal dominant porphyria that is due to a deficiency of hydroxymethylbilane synthase in the liver, the third enzyme in the 8-enzyme biosynthetic pathway of heme. clinical features are recurrent and life-threatening neurologic disturbances, abdominal pain, and elevated level of aminolevulinic acid and porphobilinogen in the urine." + }, + { + "input": "placental insufficiency", + "output": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." + }, + { + "input": "insulinoma", + "output": "A pancreatic cystadenoma that is characterized by the overproduction of insulin." + }, + { + "input": "hidrocystoma", + "output": "A cystic form of sweat gland adenoma (adenoma, sweat gland). it is produced by the cystic proliferation of apocrine secretory glands. it is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. the commonest site is around the eye, particularly lateral to the outer canthus. it is cured by surgical removal. (stedman, 25th ed; rook et al., textbook of dermatology, 4th ed, p2410)" + }, + { + "input": "apocrine adenoma", + "output": "A benign epithelial neoplasm arising from the apocrine sweat glands. representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma." + }, + { + "input": "hidradenoma", + "output": "A sweat gland benign neoplasm that is located_in an apical sweat gland." + }, + { + "input": "vulvitis", + "output": "A vulvar disease that is characterized by inflammation of the vulva." + }, + { + "input": "bronchus carcinoma", + "output": "A bronchus cancer that has_material_basis_in epithelial cells." + }, + { + "input": "lung carcinoma", + "output": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis." + }, + { + "input": "bronchial benign neoplasm", + "output": "Tumors or cancer of the bronchi." + }, + { + "input": "lung squamous cell carcinoma", + "output": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." + }, + { + "input": "lung non-small cell carcinoma", + "output": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." + }, + { + "input": "lung adenocarcinoma", + "output": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "progeria", + "output": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the lmna gene on chromosome 1q22." + }, + { + "input": "pancreatic serous cystadenoma", + "output": "A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. it is composed of glycogen-rich epithelial cells which produce a watery fluid. signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss." + }, + { + "input": "pancreatic cystadenoma", + "output": "A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas." + }, + { + "input": "pancreatic serous cystic neoplasm", + "output": "A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. it is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. representative examples include serous cystadenoma and serous cystadenocarcinoma." + }, + { + "input": "diffuse lipomatosis", + "output": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. it has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy." + }, + { + "input": "main bronchus cancer", + "output": "Malignant neoplasm of main bronchus" + }, + { + "input": "steroid lipomatosis", + "output": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. it is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone." + }, + { + "input": "mediastinal lipomatosis", + "output": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum." + }, + { + "input": "pelvic lipomatosis", + "output": "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. it predominately affects black males." + }, + { + "input": "adiposis dolorosa", + "output": "Lipomatosis, not elsewhere classified" + }, + { + "input": "otitis interna", + "output": "An inner ear disease which involves inflammation of the inner ear." + }, + { + "input": "anterior compartment syndrome", + "output": "Anterior tibial syndrome" + }, + { + "input": "arenaviridae infectious disease", + "output": "A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in arenaviridae viruses." + }, + { + "input": "pituitary-dependent cushing's disease", + "output": "Pituitary-dependent cushing's disease" + }, + { + "input": "adrenal gland hyperfunction", + "output": "Abnormally high level of cortisol in the blood." + }, + { + "input": "adrenocortical carcinoma", + "output": "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "adrenal carcinoma", + "output": "An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "acute myocarditis", + "output": "Acute myocarditis" + }, + { + "input": "adrenal cortex disease", + "output": "An adrenal gland disease that is located_in the adrenal cortex." + }, + { + "input": "adrenal gland cancer", + "output": "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys." + }, + { + "input": "adrenal cortical adenocarcinoma", + "output": "An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin." + }, + { + "input": "loeffler endocarditis", + "output": "A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils." + }, + { + "input": "thyroid gland follicular carcinoma", + "output": "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells." + }, + { + "input": "thyroid gland carcinoma", + "output": "A thyroid gland cancer that has_material_basis_in epithelial cells." + }, + { + "input": "merkel cell carcinoma", + "output": "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." + }, + { + "input": "papillary follicular thyroid adenocarcinoma", + "output": "A thyroid neoplasm of mixed papillary and follicular arrangement. its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (from devita jr et al., cancer: principles & practice of oncology, 3d ed, p1271)" + }, + { + "input": "thyroid gland papillary carcinoma", + "output": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland." + }, + { + "input": "restrictive cardiomyopathy", + "output": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium." + }, + { + "input": "thyroid gland medullary carcinoma", + "output": "A thyroid gland carcinoma that has_material_basis_in parafollicular cells." + }, + { + "input": "extrinsic cardiomyopathy", + "output": "A cardiomyopathy that is characterized by the pathology occuring outside of the myocardium." + }, + { + "input": "pantothenate kinase-associated neurodegeneration", + "output": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the pank2 gene on chromosome 20p13." + }, + { + "input": "meige syndrome", + "output": "A cranio-facial dystonia that is accompanied by blepharospasm." + }, + { + "input": "oesophagostomiasis", + "output": "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode oesophagostomum bifurcum. the symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. rarely, oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules." + }, + { + "input": "ostertagiasis", + "output": "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus ostertagia." + }, + { + "input": "tuberculosis", + "output": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes." + }, + { + "input": "urinary system cancer", + "output": "An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra." + }, + { + "input": "bartholin's gland transitional cell carcinoma", + "output": "A bartholin's gland carcinoma that derives_from transitional epithelial cells." + }, + { + "input": "bartholin's gland carcinoma", + "output": "A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in bartholin's gland." + }, + { + "input": "disease", + "output": "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism." + }, + { + "input": "ovary transitional cell carcinoma", + "output": "An ovarian epithelial cancer that derives_from epithelial transitional cells." + }, + { + "input": "ovarian carcinoma", + "output": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary." + }, + { + "input": "schneiderian carcinoma", + "output": "A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization." + }, + { + "input": "endometrial transitional cell carcinoma", + "output": "An endometrial carcinoma that derives_from transitional epithelial cells." + }, + { + "input": "bladder urothelial carcinoma", + "output": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder." + }, + { + "input": "bladder carcinoma", + "output": "A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "fallopian tube transitional cell carcinoma", + "output": "A fallopian tube carcinoma that derives_from epithelial transitional cells." + }, + { + "input": "multidrug-resistant tuberculosis", + "output": "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-tb drugs." + }, + { + "input": "prostate transitional cell carcinoma", + "output": "A prostate carcinoma that derives_from transitional epithelial cells." + }, + { + "input": "papillary transitional carcinoma", + "output": "A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium." + }, + { + "input": "urethra transitional cell carcinoma", + "output": "An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter." + }, + { + "input": "sarcomatoid transitional cell carcinoma", + "output": "A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium." + }, + { + "input": "sarcomatoid carcinoma", + "output": "A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features." + }, + { + "input": "oral tuberculosis", + "output": "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible." + }, + { + "input": "ureterocele", + "output": "A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder." + }, + { + "input": "linitis plastica", + "output": "A condition where the stomach wall becomes thickened, rubbery and loses its ability to distend. the stomach assumes a \"leather bottle\" shape. it is most often seen in adenocarcinoma of the stomach. the term is often used synonymously with diffuse adenocarcinoma of the stomach." + }, + { + "input": "scirrhous adenocarcinoma", + "output": "An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma." + }, + { + "input": "angioma serpiginosum", + "output": "A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin." + }, + { + "input": "gastritis", + "output": "A stomach disease that is an inflammation of the lining of the stomach." + }, + { + "input": "mouth disease", + "output": "A gastrointestinal system disease that is located_in the mouth." + }, + { + "input": "eosinophilic gastritis", + "output": "Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. [orcid.org/0000-0001-5208-3432, pmid:23904840]" + }, + { + "input": "eosinophilic gastroenteritis", + "output": "Gastroenteritis that is characterized by eosinophilic infiltration." + }, + { + "input": "bacterial gastritis", + "output": "A gastritis that involves inflammation of the stomach lining caused by bacteria. the disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting." + }, + { + "input": "fungal gastritis", + "output": "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients." + }, + { + "input": "necrotizing gastritis", + "output": "A variant of phlegmonous gastritis, typically progressing to gastric gangrene." + }, + { + "input": "granulomatous gastritis", + "output": "Other gastritis" + }, + { + "input": "gastrointestinal tuberculosis", + "output": "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. the infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting." + }, + { + "input": "skeletal muscle cancer", + "output": "A malignant neoplasm arising from skeletal muscle." + }, + { + "input": "skeletal muscle neoplasm", + "output": "A benign or malignant mesenchymal neoplasm arising from skeletal muscle." + }, + { + "input": "muscle cancer", + "output": "A musculoskeletal system cancer that is located_in muscle." + }, + { + "input": "liver rhabdomyosarcoma", + "output": "A rhabdomyosarcoma and sarcoma of liver that are located_in the liver." + }, + { + "input": "central nervous system rhabdomyosarcoma", + "output": "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system." + }, + { + "input": "mediastinum rhabdomyosarcoma", + "output": "A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents." + }, + { + "input": "mediastinum sarcoma", + "output": "A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum." + }, + { + "input": "alveolar rhabdomyosarcoma", + "output": "A form of rhabdomyosarcoma occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. it is extremely malignant, metastasizing widely at an early stage. few cures have been achieved and the prognosis is poor. \"alveolar\" refers to its microscopic appearance simulating the cells of the respiratory alveolus. (holland et al., cancer medicine, 3d ed, p2188)" + }, + { + "input": "rectum rhabdomyosarcoma", + "output": "A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors." + }, + { + "input": "prostate sarcoma", + "output": "A prostate cancer that is located_in the prostate." + }, + { + "input": "ectomesenchymoma", + "output": "An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. it is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component." + }, + { + "input": "gallbladder rhabdomyosarcoma", + "output": "A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles." + }, + { + "input": "gallbladder sarcoma", + "output": "A sarcoma that is located_in the gallbladder." + }, + { + "input": "ovary rhabdomyosarcoma", + "output": "An ovary sarcoma that arises from skeletal muscle progenitors." + }, + { + "input": "breast rhabdomyosarcoma", + "output": "A breast sarcoma that arises from skeletal muscle cells." + }, + { + "input": "testis rhabdomyosarcoma", + "output": "A testis sarcoma that arises from mesenchymal cells and is located_in the testis." + }, + { + "input": "testis sarcoma", + "output": "A sarcoma and malignant neoplasm of testis that is located_in the testis." + }, + { + "input": "bile duct sarcoma", + "output": "A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct." + }, + { + "input": "anus rhabdomyosarcoma", + "output": "A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus." + }, + { + "input": "anus sarcoma", + "output": "A sarcoma and malignant neoplasm of anus that is located_in the anus." + }, + { + "input": "hepatic tuberculosis", + "output": "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. the infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice." + }, + { + "input": "duodenogastric reflux", + "output": "Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach." + }, + { + "input": "duodenum disease", + "output": "An intestinal disease that is located_in the duodenum." + }, + { + "input": "pancreatic cystadenocarcinoma", + "output": "A cystic adenocarcinoma that arises from the pancreas. it includes the acinar cell and serous cystadenocarcinoma subtypes." + }, + { + "input": "pancreatic adenocarcinoma", + "output": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "bile duct cystadenocarcinoma", + "output": "A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component." + }, + { + "input": "tricuspid valve stenosis", + "output": "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. this causes increased resistance to blood flow through the valve." + }, + { + "input": "heart valve disease", + "output": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right)." + }, + { + "input": "tricuspid valve insufficiency", + "output": "A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. as a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal." + }, + { + "input": "testicular trophoblastic tumor", + "output": "A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. the vast majority of cases are choriocarcinomas." + }, + { + "input": "trophoblastic neoplasm", + "output": "A germ cell and embryonal cancer that derives_from trophoblastic tissue." + }, + { + "input": "testicular germ cell tumor non-seminomatous", + "output": "A testicular germ cell cancer characterized by the absence of a seminomatous component." + }, + { + "input": "testicular pure germ cell tumor", + "output": "A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. this category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor." + }, + { + "input": "liver disease", + "output": "Liver disease, unspecified" + }, + { + "input": "agnosia", + "output": "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss." + }, + { + "input": "tick infestation", + "output": "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families ixodidae and argasidae on animals and humans. ticks are vectors of a number diseases, including lyme disease, q fever, colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice." + }, + { + "input": "parasitic ectoparasitic infectious disease", + "output": "A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host." + }, + { + "input": "cervical adenosarcoma", + "output": "A cervical carcinosarcoma that is located_in the cervix." + }, + { + "input": "cervical carcinosarcoma", + "output": "A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." + }, + { + "input": "uterine corpus adenosarcoma", + "output": "An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus." + }, + { + "input": "uterine body mixed cancer", + "output": "A uterine corpus cancer that has_material_basis_in more than one type of cell." + }, + { + "input": "ovarian mesodermal adenosarcoma", + "output": "An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium." + }, + { + "input": "vaginal adenosarcoma", + "output": "A vaginal carcinosarcoma derives_from the glands that line the uterus." + }, + { + "input": "colon neuroendocrine neoplasm", + "output": "A neoplasm with neuroendocrine differentiation that arises from the colon. it includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." + }, + { + "input": "intestinal neuroendocrine benign tumor", + "output": "A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. it includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." + }, + { + "input": "nail disease", + "output": "An integumentary system disease that is located_in nail." + }, + { + "input": "erythrasma", + "output": "A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum." + }, + { + "input": "myxosarcoma", + "output": "A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (stedman, 25th ed)" + }, + { + "input": "common bile duct disease", + "output": "A bile duct disease that is located_in the common bile duct." + }, + { + "input": "bile duct disease", + "output": "A biliary tract disease located_in one or more bile ducts." + }, + { + "input": "biliary dyskinesia", + "output": "A gallbladder disease characterized by altered tonus of the sphincter of oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree." + }, + { + "input": "intraorbital meningioma", + "output": "A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance." + }, + { + "input": "orbital cancer", + "output": "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). it results_in the eye pushing forward causing a bulging of the eye called proptosis." + }, + { + "input": "gastrointestinal adenoma", + "output": "A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. it is a polypoid or flat circumscribed lesion. morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. according to the growth pattern, it may be classified as tubular, villous, or tubulovillous. the dysplasia is classified as mild, moderate, or severe. the frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. gastrointestinal adenomas may present as solitary or multifocal lesions. familial adenomas tend to be multifocal and carry a higher risk of malignant transformation." + }, + { + "input": "gastrointestinal neuroendocrine benign tumor", + "output": "A neoplasm with neuroendocrine differentiation arising from the digestive system. it includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas)." + }, + { + "input": "skull base chordoma", + "output": "A chordoma that is located_in the skull base." + }, + { + "input": "chondroid chordoma", + "output": "A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma." + }, + { + "input": "spinal chordoma", + "output": "A chordoma that derives_from the spine." + }, + { + "input": "dentinogenesis imperfecta", + "output": "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the dspp gene on chromosome 4q22." + }, + { + "input": "primary syphilis", + "output": "A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes." + }, + { + "input": "secondary syphilis", + "output": "A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks." + }, + { + "input": "skin cancer", + "output": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." + }, + { + "input": "differentiating neuroblastoma", + "output": "A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells." + }, + { + "input": "ganglioneuroblastoma", + "output": "A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. it may undergo transformation into a neuroblastoma. it arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. cervical ganglioneuroblastomas may be associated with horner syndrome and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea." + }, + { + "input": "cerebral neuroblastoma", + "output": "A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells." + }, + { + "input": "syphilis", + "output": "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. if left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years." + }, + { + "input": "autoimmune disease", + "output": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or t cell directed against the host tissues." + }, + { + "input": "rh isoimmunization", + "output": "The process by which fetal rh+ erythrocytes enter the circulation of an rh- mother, causing her to produce immunoglobulin g antibodies, which can cross the placenta and destroy the erythrocytes of rh+ fetuses. rh isoimmunization can also be caused by blood transfusion with mismatched blood." + }, + { + "input": "blood group incompatibility", + "output": "An antigenic mismatch between donor and recipient blood. antibodies present in the recipient's serum may be directed against antigens in the donor product. such a mismatch may result in a transfusion reaction in which, for example, donor blood is hemolyzed. (from saunders dictionary & encyclopedia of laboratory medicine and technology, 1984)." + }, + { + "input": "systemic scleroderma", + "output": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." + }, + { + "input": "pseudopseudohypoparathyroidism", + "output": "A form of pseudohypoparathyroidism characterized by the same features except for the abnormal response to hormones such as parathyroid hormone. it is associated with paternally inherited mutant alleles of the alpha chain of stimulatory g protein." + }, + { + "input": "pseudohypoparathyroidism", + "output": "Pseudohypoparathyroidism" + }, + { + "input": "articulation disorder", + "output": "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand." + }, + { + "input": "echolalia", + "output": "A speech disorder that involves the automatic repetition of vocalizations made by another person." + }, + { + "input": "mutism", + "output": "A speech disorder that involves a complete inability to speak." + }, + { + "input": "scleroderma", + "output": "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs." + }, + { + "input": "intracranial thrombosis", + "output": "Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. intracranial thrombosis can lead to thrombotic occlusions and brain infarction. the majority of the thrombotic occlusions are associated with atherosclerosis." + }, + { + "input": "glucose metabolism disease", + "output": "A metabolic disorder characterized by abnormal blood glucose levels." + }, + { + "input": "hyperglycemia", + "output": "Hyperglycemia, unspecified" + }, + { + "input": "femoral neuropathy", + "output": "A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve." + }, + { + "input": "hypertrichosis", + "output": "A hair disease characterized by hair growth that is abnormal in quantity or location." + }, + { + "input": "peroneal neuropathy", + "output": "Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (from joynt, clinical neurology, 1995, ch51, p31)" + }, + { + "input": "brain stem glioma", + "output": "A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells." + }, + { + "input": "brain stem cancer", + "output": "Malignant neoplasm of brain stem" + }, + { + "input": "cerebellum cancer", + "output": "Malignant neoplasm of cerebellum" + }, + { + "input": "childhood brain stem neoplasm", + "output": "A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells." + }, + { + "input": "childhood infratentorial neoplasm", + "output": "A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells." + }, + { + "input": "brainstem intraparenchymal clear cell meningioma", + "output": "A morphologic variant of meningioma arising from the brain stem. it is characterized by the presence of clear glycogen-rich polygonal cells." + }, + { + "input": "hair disease", + "output": "An integumentary system disease that is located_in hair." + }, + { + "input": "clear cell meningioma", + "output": "A who grade ii morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells." + }, + { + "input": "posterior fossa meningioma", + "output": "A meningioma that affects the posterior cranial fossa." + }, + { + "input": "malignant ovarian brenner tumor", + "output": "A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary." + }, + { + "input": "congenital structural myopathy", + "output": "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills." + }, + { + "input": "pyoderma", + "output": "A dermatitis that is characterized by a pyogenic infection causing the formation of pus." + }, + { + "input": "endometrial stromal sarcoma", + "output": "An endometrial stromal tumor that has_material_basis_in connective tissue." + }, + { + "input": "uterine corpus endometrial stromal sarcoma", + "output": "A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining." + }, + { + "input": "myopathy", + "output": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." + }, + { + "input": "smooth muscle cancer", + "output": "A malignant neoplasm arising from smooth muscle." + }, + { + "input": "histiocytoma", + "output": "A mesenchymal tumor composed of fibroblastic and histiocytic cells." + }, + { + "input": "extraosseous ewing sarcoma", + "output": "A ewing sarcoma that is morphologically indistinguishable from skeletal ewing sarcoma but is located in extraosseous locations." + }, + { + "input": "clear cell sarcoma", + "output": "A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. it presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated." + }, + { + "input": "spindle cell sarcoma", + "output": "A sarcoma that results_in cells that are spindle-shaped. they are usually resistant to radiation therapy." + }, + { + "input": "carcinosarcoma", + "output": "A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." + }, + { + "input": "alveolar soft part sarcoma", + "output": "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults." + }, + { + "input": "pulmonary immaturity", + "output": "A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio." + }, + { + "input": "kidney sarcoma", + "output": "A kidney cancer that is located in the kidney's connective tissue." + }, + { + "input": "coronary restenosis", + "output": "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." + }, + { + "input": "coronary stenosis", + "output": "Narrowing or constriction of a coronary artery." + }, + { + "input": "gerstmann-straussler-scheinker syndrome", + "output": "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." + }, + { + "input": "conjunctivochalasis", + "output": "Conjunctivochalasis" + }, + { + "input": "conjunctival disease", + "output": "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids." + }, + { + "input": "alexander disease", + "output": "A leukodystrophy that is characterized by the destruction of white matter and the formation of rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes." + }, + { + "input": "melorheostosis", + "output": "An osteosclerosis that has_material_basis_in a mutation of the lemd3 gene which results_in a hyperdense bony cortex." + }, + { + "input": "osteosclerosis", + "output": "A bone remodeling disease that results_in abnormal elevated bone density or mass." + }, + { + "input": "caffey disease", + "output": "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. the disease has been associated with col1a1 gene. it has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability." + }, + { + "input": "weissenbacher-zweymuller syndrome", + "output": "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities." + }, + { + "input": "gait apraxia", + "output": "Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia." + }, + { + "input": "angiomyoma", + "output": "A leiomyoma that is located_in the blood vessels." + }, + { + "input": "intravascular angioleiomyoma", + "output": "A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels." + }, + { + "input": "akinetic mutism", + "output": "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." + }, + { + "input": "encephalitozoonosis", + "output": "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in encephalitozoon cuniculi, has_material_basis_in encephalitozoon intestinalis or has_material_basis_in encephalitozoon hellem." + }, + { + "input": "microsporidiosis", + "output": "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in microsporidia phylum members." + }, + { + "input": "penis basal cell carcinoma", + "output": "A basal cell carcinoma that is located_in the penis." + }, + { + "input": "scrotum basal cell carcinoma", + "output": "A basal cell carcinoma that arises from the scrotum." + }, + { + "input": "infundibulocystic basal cell carcinoma", + "output": "A variant of basal cell carcinoma characterized by follicular differentiation." + }, + { + "input": "nodular basal cell carcinoma", + "output": "A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery." + }, + { + "input": "metatypical basal cell carcinoma", + "output": "A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma." + }, + { + "input": "pigmented basal cell carcinoma", + "output": "A basal cell carcinoma characterized by brown or black pigmentation." + }, + { + "input": "anal margin basal cell carcinoma", + "output": "A basal cell carcinoma that is located_in the anal margin." + }, + { + "input": "anal margin carcinoma", + "output": "An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus)." + }, + { + "input": "skin nasal cell carcinoma with sebaceous differentiation", + "output": "A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin." + }, + { + "input": "external ear basal cell carcinoma", + "output": "A basal cell carcinoma that arises from the skin of the external ear." + }, + { + "input": "external ear carcinoma", + "output": "An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "micronodular basal cell carcinoma", + "output": "A basal cell carcinoma characterized by solid tumor nodules." + }, + { + "input": "gynatresia", + "output": "A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina." + }, + { + "input": "adamantinoid basal cell epithelioma", + "output": "A rare but aggressive type of basal skin carcinoma. it is characterized by the presence of a meshwork of stellate tumor cells. it occurs most commonly in the nose and ears." + }, + { + "input": "fibroepithelial basal cell carcinoma", + "output": "A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. it follows an indolent course." + }, + { + "input": "morpheaform basal cell carcinoma", + "output": "A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma." + }, + { + "input": "clear cell basal cell carcinoma", + "output": "A morphologic variant of basal cell carcinoma characterized by the presence of clear cells." + }, + { + "input": "adenoid basal cell carcinoma", + "output": "A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern." + }, + { + "input": "follicular basal cell carcinoma", + "output": "A basal cell carcinoma that is characterized by follicular differentiation." + }, + { + "input": "scimitar syndrome", + "output": "A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung." + }, + { + "input": "infiltrative basal cell carcinoma", + "output": "A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern." + }, + { + "input": "superficial basal cell carcinoma", + "output": "A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors." + }, + { + "input": "vulva basal cell carcinoma", + "output": "A vulva carcinoma that has_material_basis_in basal cells." + }, + { + "input": "cystic basal cell carcinoma", + "output": "A nodular basal cell carcinoma that is characterized by a homogenous blue/black area." + }, + { + "input": "sarcomatoid basal cell carcinoma", + "output": "A basal cell carcinoma of the skin characterized by the presence of sarcomatoid features." + }, + { + "input": "signet ring basal cell carcinoma", + "output": "A rare type of basal cell carcinoma. it is characterized by the presence of mucin containing signet ring cells." + }, + { + "input": "bone giant cell tumor", + "output": "A benign giant cell tumor that results_in the presence of multinucleated giant cells." + }, + { + "input": "radiculopathy", + "output": "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling." + }, + { + "input": "polyradiculopathy", + "output": "A radiculopathy that is present in more than one nerve." + }, + { + "input": "polyradiculoneuropathy", + "output": "A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves." + }, + { + "input": "myofascial pain syndrome", + "output": "Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. pain is referred to a location distant from the trigger points. a prime example is the temporomandibular joint dysfunction syndrome." + }, + { + "input": "smooth muscle tumor", + "output": "A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." + }, + { + "input": "epidermolysis bullosa acquisita", + "output": "An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type vii collagen." + }, + { + "input": "non-gestational choriocarcinoma", + "output": "A choriocarcicoma that develops in the absence of a preceding gestational event." + }, + { + "input": "pilar sheath acanthoma", + "output": "Benign follicular tumor usually of the upper lip." + }, + { + "input": "epidermolytic acanthoma", + "output": "A benign epithelial verrucous lesion of the skin. morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis." + }, + { + "input": "acantholytic acanthoma", + "output": "A benign epithelial neoplasm of the skin. it presents as a papular or nodular lesion. morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis." + }, + { + "input": "ebola hemorrhagic fever", + "output": "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." + }, + { + "input": "marburg hemorrhagic fever", + "output": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. the infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding." + }, + { + "input": "erdheim-chester disease", + "output": "A non-langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. it results in sclerosis of the long bones and failure of the affected organs." + }, + { + "input": "non-langerhans-cell histiocytosis", + "output": "A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of langerhans cells." + }, + { + "input": "burning mouth syndrome", + "output": "A mouth disease that is characterized by long-lasting burning sensations of the mouth." + }, + { + "input": "parovarian cyst", + "output": "A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary." + }, + { + "input": "splenic manifestation of prolymphocytic leukemia", + "output": "Infiltration and expansion of the white and red pulp of the spleen by prolymphocytic leukemia." + }, + { + "input": "tinea favosa", + "output": "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. removal of these crusts reveals an oozing, moist, red base. later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring." + }, + { + "input": "tinea capitis", + "output": "A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern." + }, + { + "input": "variegate porphyria", + "output": "An autosomal dominant disorder of porphyria-heme metabolism. it is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. patients may experience skin sensitivity to sunlight." + }, + { + "input": "lymphocele", + "output": "Cystic mass containing lymph from diseased lymphatic channels or following surgical trauma or other injury." + }, + { + "input": "ciliary body cancer", + "output": "Malignant neoplasm of ciliary body" + }, + { + "input": "ciliary body disease", + "output": "An iris disease that is located_in the ciliary body." + }, + { + "input": "amelanotic melanoma", + "output": "An unpigmented malignant melanoma. it is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (dorland, 27th ed; stedman, 25th ed)" + }, + { + "input": "posterior mediastinum cancer", + "output": "Malignant neoplasm of posterior mediastinum" + }, + { + "input": "epithelioid cell melanoma", + "output": "A melanoma characterized by the presence of malignant large epithelioid melanocytes." + }, + { + "input": "cervical cancer", + "output": "A female reproductive organ cancer that is located_in the cervix." + }, + { + "input": "malignant breast melanoma", + "output": "A breast cancer that arises_from melanocytes." + }, + { + "input": "apparent mineralocorticoid excess syndrome", + "output": "A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the hsd11b2 gene on chromosome 16." + }, + { + "input": "myasthenia gravis", + "output": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath." + }, + { + "input": "stomach diverticulosis", + "output": "A pathological condition characterized by the presence of a number of gastric diverticula in the stomach." + }, + { + "input": "schnitzler syndrome", + "output": "A hypersensitivity reaction type iv disease that is characterized by chronic urticarial rash and monoclonal igm gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy." + }, + { + "input": "intracranial embolism", + "output": "Occlusion and stenosis of cerebral arteries, not resulting in cerebral infarction" + }, + { + "input": "silo filler's disease", + "output": "A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans." + }, + { + "input": "milk allergy", + "output": "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual." + }, + { + "input": "egg allergy", + "output": "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." + }, + { + "input": "peanut allergy", + "output": "A legume 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." + }, + { + "input": "nut allergy", + "output": "A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis." + }, + { + "input": "autoimmune disease of the nervous system", + "output": "An autoimmune disease affecting the nervous system." + }, + { + "input": "orbit alveolar rhabdomyosarcoma", + "output": "An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form." + }, + { + "input": "papillary squamous carcinoma", + "output": "A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation." + }, + { + "input": "myofibroma", + "output": "A benign tumor that consists chiefly of fibrous connective tissue, with variable numbers of muscle cells forming portions of the neoplasm (from stedman's, 27th ed)." + }, + { + "input": "bone peripheral neuroepithelioma", + "output": "A small round cell tumor with neural differentiation arising from the bone. it may be associated with pain." + }, + { + "input": "soft tissue peripheral neuroepithelioma", + "output": "A small round cell tumor with neural differentiation arising from the soft tissues." + }, + { + "input": "neuromuscular junction disease", + "output": "A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction." + }, + { + "input": "reticulohistiocytic granuloma", + "output": "A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. the lesions are yellow-brown papules affecting any part of the body. patients are usually adult men. the prognosis is excellent. -- 2003" + }, + { + "input": "granulomatous dermatitis", + "output": "An inflammatory reaction of the skin to various organic and inorganic antigens. it is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells." + }, + { + "input": "pustulosis of palm and sole", + "output": "Pustulosis palmaris et plantaris" + }, + { + "input": "acneiform dermatitis", + "output": "Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. causes include infections and the use of certain medications (e.g., antibiotics and steroids)." + }, + { + "input": "neuromuscular disease", + "output": "A neuropathy that affect the nerves that control the voluntary muscles." + }, + { + "input": "dermatosis papulosa nigra", + "output": "Seborrheic keratosis" + }, + { + "input": "occupational dermatitis", + "output": "A recurrent contact dermatitis caused by substances found in the work place." + }, + { + "input": "spongiotic dermatitis", + "output": "A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. it affects males more than females and is usually contracted at a relatively young age. it is thought to be caused by an allergic reaction to food, insect bites, or medication." + }, + { + "input": "phototoxic dermatitis", + "output": "An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight." + }, + { + "input": "folliculitis", + "output": "Inflammation of follicles, primarily hair follicles." + }, + { + "input": "hepatitis e", + "output": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in hepatitis e virus, which is transmitted_by ingestion of contaminated food. the infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice." + }, + { + "input": "cervix melanoma", + "output": "A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes." + }, + { + "input": "fibrous histiocytoma", + "output": "A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. it is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage." + }, + { + "input": "cutaneous fibrous histiocytoma", + "output": "A solitary, slowly growing, nodular mass, most often affecting the extremities. it is composed of fibrous and histiocytic cells which infiltrate the dermis and occasionally the underlying subcutaneous tissue. usually local excision is curative. recurrences are reported only in a small minority of cases." + }, + { + "input": "benign deep fibrous histiocytoma", + "output": "A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. it usually affects the extremities or the head and neck region. it recurs locally in a minority of cases." + }, + { + "input": "malignant adenofibroma", + "output": "A carcinoma arising from the ovary. it is characterized by the presence of malignant epithelial cells in a fibrotic stroma. histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma." + }, + { + "input": "sea-blue histiocytosis", + "output": "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids." + }, + { + "input": "juvenile xanthogranuloma", + "output": "A non-langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. these may be red, orange or tan at first, but over time may become more yellow in color. these bumps usually appear on the head, neck and trunk." + }, + { + "input": "dyslexia", + "output": "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability." + }, + { + "input": "somatostatinoma", + "output": "A somatostatin-secreting tumor derived from the pancreatic delta cells (somatostatin-secreting cells). it is also found in the intestine. somatostatinomas are associated with diabetes mellitus; cholelithiasis; steatorrhea; and hypochlorhydria. the majority of somatostatinomas have the potential for metastasis." + }, + { + "input": "pancreatic somatostatinoma", + "output": "A neuroendocrine tumor arising from the delta cells of the pancreas. it is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss." + }, + { + "input": "pancreatic delta cell neoplasm", + "output": "A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. it may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning)." + }, + { + "input": "small intestine neuroendocrine neoplasm", + "output": "A neoplasm with neuroendocrine differentiation that arises from the small intestine. it includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." + }, + { + "input": "cavernous sinus meningioma", + "output": "A meningioma that affects the cavernous sinus." + }, + { + "input": "anterior cranial fossa meningioma", + "output": "A meningioma that affects the anterior cranial fossa." + }, + { + "input": "skull base meningioma", + "output": "A meningioma that arises from the skull base." + }, + { + "input": "central nervous system germinoma", + "output": "A malignant germ cell tumor arising from the central nervous system. it is composed of uniform cells resembling primitive germ cells. these cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (adapted from who)" + }, + { + "input": "central nervous system germ cell tumor", + "output": "A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells." + }, + { + "input": "seminoma", + "output": "A germinoma that has_material_basis_in cells that make sperm and eggs." + }, + { + "input": "dysgerminoma", + "output": "A germ cell cancer that derives_from cells that give rise to egg cells." + }, + { + "input": "cervical alveolar soft part sarcoma", + "output": "An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix." + }, + { + "input": "cystoid macular edema", + "output": "Fluid accumulation in the outer layer of the macula lutea at the center of the retina in a petaloid pattern where cystic spaces are formed and may lead to macular depressions or holes." + }, + { + "input": "macular degeneration", + "output": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss." + }, + { + "input": "macular retinal edema", + "output": "Fluid accumulation in the outer layer of the macula lutea that results from intraocular or systemic insults. it may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, diabetic retinopathy, and posterior segment inflammatory disease. (from survey of ophthalmology 2004; 49(5) 470-90)" + }, + { + "input": "bartter disease", + "output": "Bartter's syndrome" + }, + { + "input": "renal cell carcinoma", + "output": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." + }, + { + "input": "renal carcinoma", + "output": "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)." + }, + { + "input": "childhood kidney cell carcinoma", + "output": "A renal cell carcinoma that occurs during childhood." + }, + { + "input": "primary hyperaldosteronism", + "output": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands." + }, + { + "input": "multilocular clear cell renal cell carcinoma", + "output": "A rare kidney neoplasm of low malignant potential. it is a well-circumscribed multicystic mass without solid areas. the inner lining of the cystic structures is composed of clear cells. it usually presents as a unilateral solitary mass." + }, + { + "input": "collecting duct carcinoma", + "output": "A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material." + }, + { + "input": "papillary renal cell carcinoma", + "output": "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors." + }, + { + "input": "clear cell renal cell carcinoma", + "output": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope." + }, + { + "input": "clear cell adenocarcinoma", + "output": "An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." + }, + { + "input": "renal tubular transport disease", + "output": "Genetic defects in the selective or non-selective transport functions of the kidney tubules." + }, + { + "input": "chromophobe renal cell carcinoma", + "output": "A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells." + }, + { + "input": "mucinous tubular and spindle renal cell carcinoma", + "output": "A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. often the tubular structures have a spindle cell appearance. patients are usually asymptomatic and occasionally they may present with hematuria or flank pain." + }, + { + "input": "sarcomatoid renal cell carcinoma", + "output": "A high grade carcinoma of the kidney. it is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade." + }, + { + "input": "pseudohypoaldosteronism", + "output": "A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. congenital forms are rare autosomal disorders characterized by neonatal hypertension, hyperkalemia, increased renin activity and aldosterone concentration. the type i features hyperkalemia with sodium wasting; type ii, hyperkalemia without sodium wasting. pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after kidney transplantation." + }, + { + "input": "achondroplasia", + "output": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (fgfr3) on chromosome 4p16.3. achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone." + }, + { + "input": "allergic rhinitis", + "output": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites." + }, + { + "input": "rhinitis", + "output": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. the inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip." + }, + { + "input": "malignant biphasic mesothelioma", + "output": "A malignant neoplasm arising from mesothelial cells in the pleura. it is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." + }, + { + "input": "sarcomatoid mesothelioma", + "output": "A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. it is characterized by the presence of spindle cells. anaplastic morphologic features and multinucleated malignant cells may also be seen." + }, + { + "input": "malignant epithelial mesothelioma", + "output": "A malignant neoplasm arising from mesothelial cells in the pleura. it is characterized by the presence of neoplastic cells with an epithelioid appearance. in the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. in a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity." + }, + { + "input": "malignant peritoneal solitary fibrous tumor", + "output": "A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum." + }, + { + "input": "persian gulf syndrome", + "output": "A syndrome affecting returning military veterans and civilian workers of the gulf war." + }, + { + "input": "avian influenza", + "output": "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." + }, + { + "input": "myotonic disease", + "output": "A muscular dystrophy that is characterized by progressive muscle wasting and weakness." + }, + { + "input": "hypokalemia", + "output": "Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia." + }, + { + "input": "orofaciodigital syndrome", + "output": "A syndrome that is characterized by malformations of the face, oral cavity, and digits." + }, + { + "input": "central nervous system angiosarcoma", + "output": "A central nervous system sarcoma that is located_in the inner lining of blood vessels." + }, + { + "input": "childhood angiosarcoma", + "output": "An angiosarcoma that affects children." + }, + { + "input": "aorta angiosarcoma", + "output": "An angiosarcoma that is located_in the aorta." + }, + { + "input": "breast angiosarcoma", + "output": "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area." + }, + { + "input": "conventional angiosarcoma", + "output": "An angiosarcoma characterized by the presence of malignant spindle endothelial cells." + }, + { + "input": "gallbladder angiosarcoma", + "output": "An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder." + }, + { + "input": "thyroid angiosarcoma", + "output": "A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter." + }, + { + "input": "thyroid sarcoma", + "output": "A thyroid gland cancer that is located_in the supporting cells of the thyroid." + }, + { + "input": "skin angiosarcoma", + "output": "An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration." + }, + { + "input": "pleomorphic adenoma", + "output": "A gastrointestinal system benign neoplasm that is a located_in the salivary glands." + }, + { + "input": "cervical endometrial stromal sarcoma", + "output": "A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm." + }, + { + "input": "cervix endometrial stromal tumor", + "output": "A cervical cancer that derives_from the fibrous connective tissue of the endometrium." + }, + { + "input": "superior vena cava angiosarcoma", + "output": "A malignant vascular neoplasm arising from the superior vena cava." + }, + { + "input": "prostate angiosarcoma", + "output": "An angiosarcoma and sarcoma of prostate that is located_in the prostate." + }, + { + "input": "mediastinum angiosarcoma", + "output": "An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum." + }, + { + "input": "ovarian angiosarcoma", + "output": "An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels." + }, + { + "input": "mucoepidermoid carcinoma", + "output": "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation." + }, + { + "input": "hallermann-streiff syndrome", + "output": "A syndrome that affects growth, cranial development, hair growth and dental development." + }, + { + "input": "hypotrichosis", + "output": "A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles." + }, + { + "input": "dysgraphia", + "output": "A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper." + }, + { + "input": "nominal aphasia", + "output": "An agnosia that involves a severe problem with recalling words or names." + }, + { + "input": "basophil adenoma", + "output": "A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. it may give rise to excessive secretion of acth, resulting in cushing syndrome. (dorland, 27th ed)" + }, + { + "input": "retrograde amnesia", + "output": "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection." + }, + { + "input": "mesenchymal chondrosarcoma", + "output": "A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. they tend to occur in the younger age group and are highly metastatic. (devita jr et al., cancer: principles & practice of oncology, 3d ed, p1456)" + }, + { + "input": "childhood mesenchymal chondrosarcoma", + "output": "A mesenchymal chondrosarcoma occurring in children." + }, + { + "input": "adult mesenchymal chondrosarcoma", + "output": "An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage." + }, + { + "input": "extraskeletal mesenchymal chondrosarcoma", + "output": "A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage." + }, + { + "input": "extraskeletal myxoid chondrosarcoma", + "output": "A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern." + }, + { + "input": "anal gland neoplasm", + "output": "Tumors or cancer of the anal gland." + }, + { + "input": "anus benign neoplasm", + "output": "Tumors or cancer of the anal canal." + }, + { + "input": "large cell carcinoma", + "output": "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm." + }, + { + "input": "thymus large cell carcinoma", + "output": "An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis." + }, + { + "input": "type c thymoma", + "output": "A thymoma that has an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. although any morphologic subtype of thymoma may eventually have a malignant clinical course, this term is most often associated with thymoma types b3 and c." + }, + { + "input": "ovarian large-cell neuroendocrine carcinoma", + "output": "An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (ne) markers and has_material_basis_in neuroendocrine cells." + }, + { + "input": "lung large cell carcinoma", + "output": "An undifferentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular, squamous, or neuroendocrine differentiation." + }, + { + "input": "oral leukoedema", + "output": "A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer." + }, + { + "input": "ludwig's angina", + "output": "Severe cellulitis of the submaxillary space with secondary involvement of the perimandibular spaces. it usually results from infection in the lower molar area or from an infection following a penetrating injury to the mouth floor." + }, + { + "input": "ascariasis", + "output": "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode ascaris lumbricoides. larvae migrating through the lungs cause cough, wheezing and hemoptysis. bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation." + }, + { + "input": "non specific chronic endometritis", + "output": "An endometritis that is present for weeks or more and does not have an identifiable causative organism." + }, + { + "input": "granulomatous endometritis", + "output": "An endometritis that is characterized by the presence of granulomas in the uterus." + }, + { + "input": "subacute bacterial endocarditis", + "output": "Endocardium infection that is usually caused by streptococcus. subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." + }, + { + "input": "choroid plexus meningioma", + "output": "A meningioma that affects the choroid plexus." + }, + { + "input": "familial meningioma", + "output": "A meningioma that is transmitted from the parents to an offspring." + }, + { + "input": "benign meningioma", + "output": "A grade i, slowly growing meningioma. only a minority of tumors recur following complete resection." + }, + { + "input": "secretory meningioma", + "output": "A who grade i meningioma characterized by the presence of epithelial differentiation and numerous intracellular pas positive bodies that are rich in glycogen." + }, + { + "input": "lymphoplasmacyte-rich meningioma", + "output": "A who grade i meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells." + }, + { + "input": "childhood meningioma", + "output": "A meningioma that occurs during childhood." + }, + { + "input": "microcystic meningioma", + "output": "A who grade i meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid." + }, + { + "input": "epidermolytic hyperkeratosis", + "output": "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth." + }, + { + "input": "bile duct cancer", + "output": "A biliary tract cancer that is located_in the bile duct." + }, + { + "input": "biliary tract cancer", + "output": "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct." + }, + { + "input": "common bile duct neoplasm", + "output": "Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi." + }, + { + "input": "muscle benign neoplasm", + "output": "Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. the concept does not refer to neoplasms located in muscles." + }, + { + "input": "intestinal benign neoplasm", + "output": "A gastrointestinal system benign neoplasm that is located_in the intestine." + }, + { + "input": "ulnar neuropathy", + "output": "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. common sites of injury include the axilla, cubital tunnel at the elbow, and guyon's canal at the wrist. (from joynt, clinical neurology, 1995, ch51 pp43-5)" + }, + { + "input": "periapical granuloma", + "output": "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." + }, + { + "input": "maxillary cancer", + "output": "A jaw cancer that effects the maxilla or upper jaw." + }, + { + "input": "holoprosencephaly", + "output": "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies." + }, + { + "input": "ollier disease", + "output": "A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. this condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet." + }, + { + "input": "hydranencephaly", + "output": "Other reduction deformities of brain" + }, + { + "input": "ideomotor apraxia", + "output": "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. this condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (from adams et al., principles of neurology, 6th ed, p57)" + }, + { + "input": "nasal cavity inverting papilloma", + "output": "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. it results from the invagination and proliferation of epithelial cells in the underlying stroma. clinical manifestations include nasal obstruction, epistaxis, and anosmia. it has the tendency to recur and extend to adjacent structures. inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas." + }, + { + "input": "submandibular adenitis", + "output": "Inflammation of the submandibular lymph nodes." + }, + { + "input": "cervical adenitis", + "output": "Inflammation of the cervical lymph nodes." + }, + { + "input": "postauricular lymphadenitis", + "output": "Inflammation of the postauricular lymph nodes." + }, + { + "input": "suppurative lymphadenitis", + "output": "A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria." + }, + { + "input": "axillary adenitis", + "output": "An infection of the lymph nodes in the axilla." + }, + { + "input": "epidermolysis bullosa simplex", + "output": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the krt5, krt14, or plec genes, which encode keratin and plectin proteins that provide resilience in skin." + }, + { + "input": "retinal cancer", + "output": "Malignant neoplasm of retina" + }, + { + "input": "trilateral retinoblastoma", + "output": "A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region." + }, + { + "input": "familial retinoblastoma", + "output": "An inherited malignant tumor that originates in the nuclear layer of the retina. a predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." + }, + { + "input": "bilateral retinoblastoma", + "output": "A retinoblastoma that develops in both eyes." + }, + { + "input": "unilateral retinoblastoma", + "output": "A retinoblastoma that effects only one eye." + }, + { + "input": "intraocular retinoblastoma", + "output": "A retinoblastoma that is located_in the eye and has not spread to other parts of the body." + }, + { + "input": "extraocular retinoblastoma", + "output": "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." + }, + { + "input": "benign mastocytoma", + "output": "Other mast cell neoplasms of uncertain behavior" + }, + { + "input": "extracutaneous mastocytoma", + "output": "Other mast cell neoplasms of uncertain behavior" + }, + { + "input": "indolent systemic mastocytosis", + "output": "Systemic mastocytosis" + }, + { + "input": "multiple chemical sensitivity", + "output": "A syndrome that is an adverse physical reaction to low levels of many common chemicals." + }, + { + "input": "thalamic disease", + "output": "A brain disease that is characterized by dejerine-roussy syndrome that develops from thalamic injury." + }, + { + "input": "filamentary keratitis", + "output": "Filamentary keratitis" + }, + { + "input": "kyphosis", + "output": "A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column." + }, + { + "input": "congenital kyphosis", + "output": "A kyphosis that results_in abnormal formation located_in body of vertebra." + }, + { + "input": "venous hemangioma", + "output": "A hemangioma composed of veins." + }, + { + "input": "freemartinism", + "output": "A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. freemartinism can occur in other mammals. when placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric \"female\"(chimerism)." + }, + { + "input": "androgen insensitivity syndrome", + "output": "A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,xy resulting in female physical traits but male genetic makeup." + }, + { + "input": "uremic neuropathy", + "output": "Neuropathy resulting from uremia." + }, + { + "input": "uremia", + "output": "Unspecified kidney failure" + }, + { + "input": "keratitis", + "output": "A corneal disease that is characterized by inflammation of the cornea." + }, + { + "input": "thymus mucoepidermoid carcinoma", + "output": "A mucoepidermoid carcinoma located_in the thymus." + }, + { + "input": "breast mucoepidermoid carcinoma", + "output": "A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions." + }, + { + "input": "intramuscular hemangioma", + "output": "A hemangioma arising from skeletal muscle." + }, + { + "input": "breast metaplastic carcinoma", + "output": "A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types." + }, + { + "input": "bile duct mucoepidermoid carcinoma", + "output": "A mucoepidermoid carcinoma located_in a bile duct." + }, + { + "input": "extrahepatic bile duct carcinoma", + "output": "A cholangiocarcinoma that arises from the extrahepatic bile ducts." + }, + { + "input": "cutaneous mucoepidermoid carcinoma", + "output": "A rare carcinoma of the skin. it is characterized by epidermoid cells interspersed with glandular cells." + }, + { + "input": "lacrimal gland mucoepidermoid carcinoma", + "output": "A mucoepidermoid carcinoma located_in the lacrimal gland." + }, + { + "input": "mucoepidermoid esophageal carcinoma", + "output": "A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (who)" + }, + { + "input": "thyroid gland mucoepidermoid carcinoma", + "output": "A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue." + }, + { + "input": "laryngeal mucoepidermoid carcinoma", + "output": "A mucoepidermoid carcinoma located_in the larynx." + }, + { + "input": "deep angioma", + "output": "A hemangioma arising from the deep soft tissues." + }, + { + "input": "malignant mediastinal neurogenic neoplasm", + "output": "A mediastinal cancer that has_material_basis_in neural cells." + }, + { + "input": "endophthalmitis", + "output": "A globe disease that is characterized by inflammation of the inside of the eye." + }, + { + "input": "intraneural perineurioma", + "output": "A who grade i perineurioma that arises within the endoneurium. it is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells." + }, + { + "input": "perineurioma", + "output": "A rare benign tumor composed entirely of neoplastic perineurial cells. it may occur in the soft tissues, intraneurally or in mucosal sites." + }, + { + "input": "nerve root neoplasm", + "output": "Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. the majority of these tumors are benign. clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. large tumors may cause spinal cord compression." + }, + { + "input": "epicardium cancer", + "output": "A benign or malignant neoplasm that affects the inner layer of the pericardium." + }, + { + "input": "prostate disease", + "output": "Disorder of prostate, unspecified" + }, + { + "input": "verrucous keratotic hemangioma", + "output": "A skin hemangioma characterized by the presence of epidermal hyperplasia." + }, + { + "input": "mongolian spot", + "output": "A bluish-gray to gray-brown benign, melanocytic nevus found usually in the lumbosacral region of dark-skinned people, especially those of east asian ancestry. it is usually congenital or appears shortly after birth, and disappears in childhood." + }, + { + "input": "infratentorial cancer", + "output": "A brain cancer that is located_in the infratentorial region." + }, + { + "input": "foramen magnum meningioma", + "output": "A meningioma that affects the foramen magnum." + }, + { + "input": "skin hemangioma", + "output": "A hemangioma arising from the skin." + }, + { + "input": "gastric neuroendocrine neoplasm", + "output": "A neoplasm with neuroendocrine differentiation that arises from the stomach. it includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." + }, + { + "input": "malignant gastric germ cell tumor", + "output": "A benign or malignant germ cell tumor that arises from the stomach. representative examples include teratoma and choriocarcinoma." + }, + { + "input": "extragonadal germ cell cancer", + "output": "A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. the tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary." + }, + { + "input": "bone giant cell sarcoma", + "output": "A malignant giant cell tumor that is composed_of multinucleated giant cells." + }, + { + "input": "subglottic angioma", + "output": "A hemangioma arising from the subglottic area." + }, + { + "input": "intracranial hypotension", + "output": "A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of csf into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging." + }, + { + "input": "brain edema", + "output": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma." + }, + { + "input": "vasomotor rhinitis", + "output": "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food." + }, + { + "input": "atrophic rhinitis", + "output": "A rhinitis which involves inflammation of the nose characterized 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." + }, + { + "input": "calciphylaxis", + "output": "Condition of induced systemic hypersensitivity in which tissues respond to appropriate challenging agents with a sudden local calcification." + }, + { + "input": "somatoform disorder", + "output": "A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate." + }, + { + "input": "testicular brenner tumor", + "output": "A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma." + }, + { + "input": "histiocytoid hemangioma", + "output": "A hemangioma characterized by the presence of epithelioid endothelial cells." + }, + { + "input": "mixed testicular germ cell tumor", + "output": "A mixed germ cell cancer that is located_in the testis." + }, + { + "input": "placenta accreta", + "output": "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium." + }, + { + "input": "middle cranial fossa meningioma", + "output": "A meningioma that affects the middle cranial fossa." + }, + { + "input": "striatonigral degeneration", + "output": "Striatonigral degeneration" + }, + { + "input": "multiple system atrophy", + "output": "A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. this disease is generally considered a clinical variant of multiple system atrophy. affected individuals present in the fifth or sixth decade with orthostasis and bladder dysfunction; and later develop fecal incontinence; anhidrosis; ataxia; impotence; and alterations of tone suggestive of basal ganglia dysfunction. (from adams et al., principles of neurology, 6th ed, p536)" + }, + { + "input": "testicular leydig cell tumor", + "output": "A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of leydig cells. it usually presents as a painless testicular mass. gynecomastia is present in approximately thirty percent of the cases. libido may be decreased. in children, precocious puberty may be present. a minority of cases exhibit malignant characteristics." + }, + { + "input": "testicular sex cord-stromal neoplasm", + "output": "A sex cord-gonadal stromal tumor that is located_in the testis." + }, + { + "input": "breast hemangioma", + "output": "A breast benign neoplasm that is characterized by a collection of excess blood vessels." + }, + { + "input": "vasculogenic impotence", + "output": "An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue." + }, + { + "input": "pulmonary blastoma", + "output": "A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. it is most commonly effects children." + }, + { + "input": "embryoma", + "output": "A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells." + }, + { + "input": "classic pulmonary blastoma", + "output": "A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements." + }, + { + "input": "epithelial predominant pulmonary blastoma", + "output": "A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. it affects mostly middle-aged adults and it is rare in children. the prognosis is better compared to the biphasic pulmonary blastoma." + }, + { + "input": "pleuropulmonary blastoma", + "output": "A pulmonary blastoma that derives_from the lung or pleural cavity." + }, + { + "input": "congenital mesoblastic nephroma", + "output": "A kidney cancer that is characterized by the presence of fibroblastic cells." + }, + { + "input": "rapidly progressive glomerulonephritis", + "output": "Rapidly progressive nephritic syndrome" + }, + { + "input": "exudative glomerulonephritis", + "output": "Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes." + }, + { + "input": "proliferative glomerulonephritis", + "output": "A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. examples include iga nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis." + }, + { + "input": "focal embolic glomerulonephritis", + "output": "Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia." + }, + { + "input": "anti-basement membrane glomerulonephritis", + "output": "A goodpasture syndrome that is characterized by damage to only kidney capillaries." + }, + { + "input": "diffuse glomerulonephritis", + "output": "Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure." + }, + { + "input": "subacute glomerulonephritis", + "output": "A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. the histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis." + }, + { + "input": "mesangial proliferative glomerulonephritis", + "output": "A focal inflammation of glomeruli secondary to mesangial cell proliferation and matrix deposition within the mesangium." + }, + { + "input": "immune-complex glomerulonephritis", + "output": "Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function." + }, + { + "input": "cerebellopontine angle primitive neuroectodermal tumor", + "output": "A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain." + }, + { + "input": "intracranial primitive neuroectodermal tumor", + "output": "A central nervous system embryonal tumor, not otherwise specified arising from the brain." + }, + { + "input": "angiokeratoma", + "output": "A vascular, horny neoplasm of the skin characterized by telangiectasis and secondary epithelial changes including acanthosis and hyperkeratosis." + }, + { + "input": "medulloepithelioma", + "output": "A rare, unilateral, benign or malignant embryonic neoplasm typically presenting as a cilliary body mass during childhood. it is composed of medullary epithelial cells." + }, + { + "input": "supratentorial primitive neuroectodermal tumor", + "output": "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region." + }, + { + "input": "gm2 gangliosidosis, ab variant", + "output": "A gm2 gangliosidosis that is characterized by normal hexosaminidase a (hexa) and hexosaminidase b (hexb) but the inability to form a functional gm2 activator complex." + }, + { + "input": "space motion sickness", + "output": "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (from webster's new world dictionary)" + }, + { + "input": "sm-ahnmd", + "output": "A disorder characterized by systemic infiltration of internal organs by aggregates of neoplastic mast cells and the presence of a clonal non-mast cell hematologic neoplasm (e.g., myelodysplastic syndrome, chronic myeloproliferative disorder, acute myeloid leukemia, and lymphoma)." + }, + { + "input": "aggressive systemic mastocytosis", + "output": "Aggressive systemic mastocytosis" + }, + { + "input": "male reproductive system disease", + "output": "A reproductive system disease that affects male reproductive organs." + }, + { + "input": "movement disease", + "output": "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity." + }, + { + "input": "cerebrotendinous xanthomatosis", + "output": "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma." + }, + { + "input": "adult brainstem gliosarcoma", + "output": "A gliosarcoma of the brain stem that occurs during adulthood." + }, + { + "input": "adult brain stem glioma", + "output": "A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells." + }, + { + "input": "ganglioneuroma", + "output": "An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature schwannian stroma and arises from the sympathetic trunk in the mediastinum." + }, + { + "input": "hemangioma of peripheral nerve", + "output": "A hemangioma arising from the peripheral nerves." + }, + { + "input": "adenosquamous lung carcinoma", + "output": "An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (sqcc) and adenocarcinoma (adc) cells." + }, + { + "input": "cavernous hemangioma", + "output": "Hemangioma" + }, + { + "input": "adenosquamous carcinoma", + "output": "A squamous cell carcinoma that contains squamous cells and gland-like cells." + }, + { + "input": "gorham's disease", + "output": "A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). bone loss can occur in just one bone or spread to soft tissue and adjacent bones." + }, + { + "input": "myoepithelial carcinoma", + "output": "A carcinoma that derives_from myoepithelial cells." + }, + { + "input": "sebaceous adenocarcinoma", + "output": "A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. the tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. it may be yellow or orange. the face and scalp are the commonest sites. the growth can be slow or rapid but metastasis is uncommon. surgery cures most of the cases. (from rook et al., textbook of dermatology, 4th ed, pp2403-4)" + }, + { + "input": "vascular hemostatic disease", + "output": "Pathological processes involving the integrity of blood circulation. hemostasis depends on the integrity of blood vessels, blood fluidity, and blood coagulation. majority of the hemostatic disorders are caused by disruption of the normal interaction between the vascular endothelium, the plasma proteins (including blood coagulation factors), and platelets." + }, + { + "input": "sebaceous carcinoma", + "output": "A skin cancer that arises from the sebaceous glands." + }, + { + "input": "subependymal glioma", + "output": "Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. the tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (from clin neurol neurosurg 1997 feb;99(1):17-22)" + }, + { + "input": "benign ependymoma", + "output": "Glioma derived from ependymoglial cells that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. it may arise from any level of the ventricular system or central canal of the spinal cord. intracranial ependymomas most frequently originate in the fourth ventricle and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. spinal ependymomas are usually benign papillary or myxopapillary tumors. (from devita et al., principles and practice of oncology, 5th ed, p2018; escourolle et al., manual of basic neuropathology, 2nd ed, pp28-9)" + }, + { + "input": "pilomyxoid astrocytoma", + "output": "A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of rosenthal fibers and eosinophilic granular bodies." + }, + { + "input": "cerebellar astrocytoma", + "output": "Benign and malignant neoplasms of the cerebellum that arise from astrocytes. during childhood the majority are benign pilocytic astrocytomas. in adults both benign and relatively higher grade forms may occur. the most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. surgical resection is often curative." + }, + { + "input": "pilocytic astrocytoma", + "output": "A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain." + }, + { + "input": "pleomorphic xanthoastrocytoma", + "output": "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing gfap often surrounded by a reticulin network and eosinophilic granular bodies." + }, + { + "input": "pilocytic astrocytoma of cerebellum", + "output": "A who grade 1 astrocytoma which arises in the cerebellum. the tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called rosenthal fibers. over 80% or the cerebellar astrocytomas of childhood are pilocytic. pilocytic astrocytomas may rarely occur in adults. they are usually treated by surgical resection and in most cases have a favorable prognosis." + }, + { + "input": "gliofibroma", + "output": "An astrocytic tumor affecting young people. morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. in some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma)." + }, + { + "input": "diffuse astrocytoma", + "output": "A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures." + }, + { + "input": "glomeruloid hemangioma", + "output": "A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli. [pmid:23716835]" + }, + { + "input": "brain stem astrocytic neoplasm", + "output": "A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes." + }, + { + "input": "spinal cord astrocytoma", + "output": "A low or high grade astrocytoma that arises in the spinal cord." + }, + { + "input": "salivary gland adenoid cystic carcinoma", + "output": "A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. these structures are typically filled with a mucous-like material or contain abnormal fibrous membranes." + }, + { + "input": "cervical adenoid cystic carcinoma", + "output": "A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. it shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli." + }, + { + "input": "prostate adenoid cystic carcinoma", + "output": "An adenoid cystic carcinoma that arises from the prostate gland." + }, + { + "input": "laryngeal adenoid cystic carcinoma", + "output": "A rare adenoid cystic carcinoma of the larynx. it usually arises from the supraglottic or subglottic area. it is characterized by slow progression and late distant metastases." + }, + { + "input": "lacrimal gland adenoid cystic carcinoma", + "output": "An adenoid cystic carcinoma that arises from the lacrimal gland." + }, + { + "input": "cutaneous adenocystic carcinoma", + "output": "A rare adenoid cystic carcinoma that arises from the skin. it is very aggressive in nature with a high risk of local recurrence." + }, + { + "input": "lung adenoid cystic carcinoma", + "output": "A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain." + }, + { + "input": "anterior horn cell disease", + "output": "Any anomaly of the anterior horn cell. [hpo:probinson]" + }, + { + "input": "trachea adenoid cystic carcinoma", + "output": "An adenoid cystic carcinoma that arises from the trachea. it spreads to the submucosal tracheal tissue and to regional lymph nodes." + }, + { + "input": "trachea carcinoma", + "output": "A tracheal cancer that effects the airway that leads from the larynx to the bronchi." + }, + { + "input": "breast adenoid cystic carcinoma", + "output": "A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns." + }, + { + "input": "esophageal adenoid cystic carcinoma", + "output": "An esophageal carcinoma that derives_from epithelial cells of the salivary gland." + }, + { + "input": "bartholin's gland adenoid cystic carcinoma", + "output": "A bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-schiff-positive diastase-resistant material." + }, + { + "input": "kidney clear cell sarcoma", + "output": "A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope." + }, + { + "input": "colorado tick fever", + "output": "A viral infectious disease that results_in infection, has_material_basis_in colorado tick fever virus, which is transmitted_by rocky mountain wood tick, dermacentor andersoni. the infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue." + }, + { + "input": "lymph node tuberculosis", + "output": "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough." + }, + { + "input": "juvenile myoclonic epilepsy", + "output": "A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years." + }, + { + "input": "middle ear adenocarcinoma", + "output": "A middle ear carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "middle ear carcinoma", + "output": "A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "rete ovarii adenocarcinoma", + "output": "An ovary adenocarcinoma that arises from the rete ovarii." + }, + { + "input": "rete ovarii benign neoplasm", + "output": "A female reporoductive organ benign neoplasm that is located_in the rete ovarii." + }, + { + "input": "bile duct adenocarcinoma", + "output": "A bile duct carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "bile duct carcinoma", + "output": "A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "peritoneal serous adenocarcinoma", + "output": "A rare, serous adenocarcinoma that arises from the lining of the peritoneum. it affects females. the clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary." + }, + { + "input": "appendix carcinoma", + "output": "An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "granular cell carcinoma", + "output": "A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm." + }, + { + "input": "pancreatic carcinoma", + "output": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas." + }, + { + "input": "small intestine adenocarcinoma", + "output": "A small intestine carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "small intestine carcinoma", + "output": "A small intestine cancer that develops from epithelial cells and is located_in the small intestine." + }, + { + "input": "anal carcinoma", + "output": "A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus." + }, + { + "input": "urethra adenocarcinoma", + "output": "An urethra cancer that derives_from epithelial cells of glandular origin." + }, + { + "input": "esophagus adenocarcinoma", + "output": "An esophageal carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "basophilic adenocarcinoma", + "output": "A malignant epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes." + }, + { + "input": "pituitary carcinoma", + "output": "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. the majority are hormonally functioning neoplasms, usually producing prolactin or acth. the diagnosis is based on the presence of metastases. syndromes associated with pituitary gland carcinomas include hyperprolactinemia, cushing disease, and acromegaly." + }, + { + "input": "villous adenocarcinoma", + "output": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture." + }, + { + "input": "renal pelvis adenocarcinoma", + "output": "A renal pelvis carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "renal pelvis carcinoma", + "output": "Malignant neoplasm of renal pelvis" + }, + { + "input": "acquired hemangioma", + "output": "A hemangioma that is not present at birth but develops later in life." + }, + { + "input": "eccrine adenocarcinoma", + "output": "An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin." + }, + { + "input": "eccrine sweat gland cancer", + "output": "A malignant neoplasm involving the eccrine glands." + }, + { + "input": "breast secretory carcinoma", + "output": "A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm." + }, + { + "input": "thymus adenocarcinoma", + "output": "A thymic carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "bronchiolo-alveolar adenocarcinoma", + "output": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension." + }, + { + "input": "klatskin's tumor", + "output": "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts." + }, + { + "input": "intrahepatic cholangiocarcinoma", + "output": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree." + }, + { + "input": "tubular adenocarcinoma", + "output": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. the tumor has branched angular tubules embedded in a loose fibrous stroma." + }, + { + "input": "nasal cavity adenocarcinoma", + "output": "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "nasal cavity carcinoma", + "output": "A nasal cavity cancer that has_material_basis_in epithelial cells." + }, + { + "input": "ampulla of vater carcinoma", + "output": "An ampulla of vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "apocrine carcinoma", + "output": "An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin." + }, + { + "input": "apocrine sweat gland cancer", + "output": "A malignant neoplasm involving the apocrine gland." + }, + { + "input": "ureter adenocarcinoma", + "output": "An ureter carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "ureter carcinoma", + "output": "An ureter cancer that is located_in the ureter." + }, + { + "input": "adenocarcinoma in situ", + "output": "An in situ carcinoma that derives_from epithelial cells of glandular origin." + }, + { + "input": "gastroesophageal junction adenocarcinoma", + "output": "An adenocarcinoma that arises from and straddles the junction of the stomach and esophagus. the category of adenocarcinomas of the gastroesophageal junction also includes the majority of adenocarcinomas previously called gastric cardia adenocarcinomas. squamous cell carcinomas that affect or cross the junction of the stomach and esophagus are classified as carcinomas of the distal esophagus. adenocarcinoma of the gastroesophageal junction occurs more often in caucasian middle aged and elderly males. clinical signs and symptoms include dysphagia, abdominal pain, and weight loss. the prognosis depends on the completeness of the surgical resection, the number of lymph nodes involved by cancer, and the presence or absence of postoperative complications. the presence of tp53 mutations indicates worse prognosis." + }, + { + "input": "cholangiocarcinoma", + "output": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells." + }, + { + "input": "gallbladder carcinoma", + "output": "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells." + }, + { + "input": "postpoliomyelitis syndrome", + "output": "A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in human poliovirus 1, has_material_basis_in human poliovirus 2, or has_material_basis_in human poliovirus 3. it is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. the infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems." + }, + { + "input": "poliomyelitis", + "output": "A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in human poliovirus 1, has_material_basis_in human poliovirus 2, or has_material_basis_in human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. the infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis." + }, + { + "input": "central nervous system melanocytic neoplasm", + "output": "A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells." + }, + { + "input": "meninges hemangiopericytoma", + "output": "A solitary fibrous tumor/hemangiopericytoma that arises from the meninges." + }, + { + "input": "epidermolysis bullosa dystrophica", + "output": "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in col7a1 gene, which encodes a protein that assists assembly of type vii collagen." + }, + { + "input": "spindle cell hemangioma", + "output": "A hemangioma characterized by the presence of spindle endothelial cells." + }, + { + "input": "bone marrow cancer", + "output": "A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow." + }, + { + "input": "bone marrow disease", + "output": "A hematopoietic system disease that is located_in the bone marrow." + }, + { + "input": "pericardial tuberculosis", + "output": "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction." + }, + { + "input": "neurotic disorder", + "output": "An anxiety disorder that involves discress but neither delusions nor hallucinations." + }, + { + "input": "nelson syndrome", + "output": "Nelson's syndrome" + }, + { + "input": "gerstmann syndrome", + "output": "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia." + }, + { + "input": "prosopagnosia", + "output": "An agnosia that results in the loss of the ability to consciously recognize familiar faces." + }, + { + "input": "myelofibrosis", + "output": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue." + }, + { + "input": "myelodysplastic/myeloproliferative neoplasm", + "output": "A myeloid neoplasm that results_in the overproduction of white blood cells." + }, + { + "input": "actinobacillosis", + "output": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in actinobacillus ureae, which is a commensal of the human respiratory tract. the pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media." + }, + { + "input": "elephantiasis", + "output": "Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as elephantiasis, filarial." + }, + { + "input": "lymphedema", + "output": "Edema due to obstruction of lymph vessels or disorders of the lymph nodes." + }, + { + "input": "extraosseous ewings sarcoma-primitive neuroepithelial tumor", + "output": "A rare malignant neoplasm of the soft tissues. it is typically a disease of children and young adults. most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy." + }, + { + "input": "nonparalytic poliomyelitis", + "output": "A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in human poliovirus 1, has_material_basis_in human poliovirus 2, or has_material_basis_in human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. the infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms." + }, + { + "input": "alcoholic pancreatitis", + "output": "Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." + }, + { + "input": "pancreatitis", + "output": "A pancreas disease that is characterized by inflammation of the pancreas." + }, + { + "input": "essential tremor", + "output": "A movement disorder that causes involuntary tremors, especially in the hands. it occurs alone without other neurological signs and symptoms." + }, + { + "input": "optic nerve astrocytoma", + "output": "An astrocytoma occurring in the optic nerve." + }, + { + "input": "optic nerve glioma", + "output": "Glial cell derived tumors arising from the optic nerve, usually presenting in childhood." + }, + { + "input": "atypical polypoid adenomyoma", + "output": "An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm." + }, + { + "input": "adenomyoma of uterine corpus", + "output": "A uterine benign neoplasm that has_material_basis_in gland and muscle components." + }, + { + "input": "cervical adenomyoma", + "output": "A cervical benign neoplasm that has_material_basis_in gland and muscle components." + }, + { + "input": "camurati-engelmann disease", + "output": "An osteosclerosis that has_material_basis_in mutations in the tgfb1 gene which results_in increased bone density located_in long bone." + }, + { + "input": "trichorhinophalangeal syndrome type ii", + "output": "A syndrome that has_material_basis_in mutation of the ext1 and trps1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. the disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose." + }, + { + "input": "thyroid gland disease", + "output": "An endocrine system disease that is located_in the thyroid." + }, + { + "input": "eunuchism", + "output": "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones." + }, + { + "input": "central nervous system hemangioma", + "output": "A hemangioma arising from the brain and spinal cord." + }, + { + "input": "fibrolamellar carcinoma", + "output": "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. the polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers." + }, + { + "input": "central nervous system mesenchymal non-meningothelial tumor", + "output": "A central nervous system cancer that is characterized by mesenchymal tumors within the cns that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm." + }, + { + "input": "aflatoxins-related hepatocellular carcinoma", + "output": "A hepatocellular carcinoma that develops following exposure to aflatoxin." + }, + { + "input": "sclerosing hepatic carcinoma", + "output": "An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae." + }, + { + "input": "pineal parenchymal tumor of intermediate differentiation", + "output": "A who grade ii or iii pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. it is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (adapted from who)" + }, + { + "input": "adult pineal parenchymal tumor", + "output": "A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults." + }, + { + "input": "pineal gland cancer", + "output": "An endocrine gland located_in the pineal gland located in the brain." + }, + { + "input": "myoblastoma", + "output": "A granular cell tumor that is confined to the site of origin, without metastatic potential." + }, + { + "input": "malignant granular cell esophageal tumor", + "output": "A tumor that usually presents with small nodules or small sessile polyps, predominantly in the distal esophagus. histologically, it is composed of sheets of oval to polygonal cells with a small central nucleus and abundant granular cytoplasm. this is usually a benign tumor. (who, 2000) -- 2003" + }, + { + "input": "esophageal cancer", + "output": "A gastrointestinal system cancer that is located_in the esophagus." + }, + { + "input": "malignant granular cell myoblastoma", + "output": "An uncommon granular cell tumor which may metastasize to other anatomic sites. morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity." + }, + { + "input": "vulvar granular cell tumor", + "output": "A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. they occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei." + }, + { + "input": "cardiac granular cell neoplasm", + "output": "A very rare granular cell tumor that arises from the heart." + }, + { + "input": "mediastinal granular cell myoblastoma", + "output": "An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. all the reported cases were located in the posterior mediastinum." + }, + { + "input": "granular cell tumor of the sellar region", + "output": "A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. it is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes." + }, + { + "input": "posterior pituitary gland neoplasm", + "output": "A pituitary gland benign neoplasm that arises from the neurohypophysis." + }, + { + "input": "ehrlich tumor carcinoma", + "output": "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. it grows in both solid and ascitic forms." + }, + { + "input": "melioidosis", + "output": "A primary bacterial infectious disease that results_in infection, has_material_basis_in burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. the infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain." + }, + { + "input": "adult cerebellar neoplasm", + "output": "A benign or malignant, primary or metastatic neoplasm of the cerebellum occurring in adults." + }, + { + "input": "papillary meningioma of the cerebellum", + "output": "A papillary meningioma that affects the cerebellum." + }, + { + "input": "rhabdoid meningioma", + "output": "A who grade iii meningioma characterized by the predominant presence of rhabdoid cells forming sheets." + }, + { + "input": "childhood cerebellar neoplasm", + "output": "A neoplasm that affects the cerebellum and occurs during childhood." + }, + { + "input": "phencyclidine abuse", + "output": "A substance abuse that involves the recurring use of phencyclidine (pcp) drugs despite negative consequences." + }, + { + "input": "basosquamous carcinoma", + "output": "A skin carcinoma that histologically exhibits both basal and squamous elements. (from dorland, 27th ed)" + }, + { + "input": "adjustment disorder", + "output": "A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred." + }, + { + "input": "high grade ependymoma", + "output": "A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain." + }, + { + "input": "myxopapillary ependymoma", + "output": "A slow growing, who grade i glioma which generally occurs in young adults. it arises almost exclusively in the conus medullaris, cauda equina, and filum terminale of the spinal cord. it generally has a favorable prognosis and is characterized histologically by tumor cells arranged in a papillary manner around vascularized mucoid stromal cores. (adapted from who)." + }, + { + "input": "mixed glioma", + "output": "A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes)." + }, + { + "input": "subependymal giant cell astrocytoma", + "output": "A benign, slowly growing tumor (who grade i) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. it is the most common cns neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (who)" + }, + { + "input": "ganglioglioma", + "output": "A cell type benign neoplasm that has_material_basis_in glial-type cells." + }, + { + "input": "liver cirrhosis", + "output": "Unspecified cirrhosis of liver" + }, + { + "input": "mixed epithelial stromal tumour", + "output": "A mixed epithelial stromal tumor of the kidney with malignant stromal features." + }, + { + "input": "sternum cancer", + "output": "A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum." + }, + { + "input": "thoracic cancer", + "output": "An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall." + }, + { + "input": "middle ear cancer", + "output": "An ear cancer that is located_in the middle ear." + }, + { + "input": "middle ear disease", + "output": "A non-neoplastic or neoplastic disorder that affects the middle ear. representative examples include infection, cholesteatoma, and carcinoma." + }, + { + "input": "inner ear cancer", + "output": "An ear cancer located_in the inner ear." + }, + { + "input": "testicular infarct", + "output": "Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis." + }, + { + "input": "copper deficiency myelopathy", + "output": "A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion." + }, + { + "input": "nutritional deficiency disease", + "output": "A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content." + }, + { + "input": "dermoid cyst of ovary", + "output": "A dermoid cyst that is located_in the ovary." + }, + { + "input": "ovarian cystic teratoma", + "output": "A cystic teratoma that is located_in the ovary." + }, + { + "input": "ovarian cyst", + "output": "An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary." + }, + { + "input": "epididymal neoplasm", + "output": "A benign or malignant neoplasm that affects the epididymis. representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma." + }, + { + "input": "mediastinum leiomyoma", + "output": "A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum." + }, + { + "input": "fallopian tube leiomyoma", + "output": "A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells." + }, + { + "input": "extrahepatic bile duct leiomyoma", + "output": "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct." + }, + { + "input": "central nervous system leiomyoma", + "output": "A central nervous system benign neoplasm that derives_from smooth muscle cells." + }, + { + "input": "bizarre leiomyoma", + "output": "A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures." + }, + { + "input": "deep leiomyoma", + "output": "A leiomyoma that is located_in deep soft tissue." + }, + { + "input": "leiomyoma cutis", + "output": "A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. it is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." + }, + { + "input": "anus leiomyoma", + "output": "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus." + }, + { + "input": "lung leiomyoma", + "output": "A lung benign neoplasm that derives_from some smooth muscle cell." + }, + { + "input": "pericardium leiomyoma", + "output": "A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium." + }, + { + "input": "leiomyomatosis", + "output": "A leiomyoma that is multiple and diffuse." + }, + { + "input": "cellular leiomyoma", + "output": "A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures." + }, + { + "input": "gallbladder leiomyoma", + "output": "A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells." + }, + { + "input": "vulvar leiomyoma", + "output": "A vulvar benign neoplasm that is located_in smooth muscle cells." + }, + { + "input": "large bowel leiomyoma", + "output": "An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel." + }, + { + "input": "appendix leiomyoma", + "output": "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix." + }, + { + "input": "dartoic leiomyoma", + "output": "A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora." + }, + { + "input": "epithelioid neurofibroma", + "output": "A rare neurofibroma with epithelioid morphology." + }, + { + "input": "neurofibroma of gallbladder", + "output": "A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. morphologically, it is characterized by the presence of fibroblasts and schwann cells." + }, + { + "input": "plexiform neurofibroma", + "output": "A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. the tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. this process is almost always a manifestation of neurofibromatosis 1. (from adams et al., principles of neurology, 6th ed, p1016; j pediatr 1997 nov;131(5):678-82)" + }, + { + "input": "cellular neurofibroma", + "output": "A neurofibroma characterized by the presence of areas with increased cellularity." + }, + { + "input": "borna disease", + "output": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in borna disease virus, which is transmitted_by contact with infected oronasal secretions. the infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment." + }, + { + "input": "multiple mucosal neuroma", + "output": "Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. [pmid:16702501]" + }, + { + "input": "benign pleural mesothelioma", + "output": "A neoplasm that arises from the mesothelial cells of the pleura. the primary cause is exposure to asbestos. the major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. patients present with persistent cough and shortness of breath." + }, + { + "input": "pleural cancer", + "output": "A connective tissue cancer that located_in the pleura." + }, + { + "input": "arteriosclerosis obliterans", + "output": "Common occlusive arterial disease which is caused by atherosclerosis. it is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. risk factors include smoking, hyperlipidemia, and hypertension." + }, + { + "input": "arteriolosclerosis", + "output": "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia." + }, + { + "input": "uterine corpus sarcoma", + "output": "An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus." + }, + { + "input": "endometrial stromal tumor", + "output": "Neoplasms of the endometrial stroma that sometimes involve the myometrium. these tumors contain cells that may closely or remotely resemble the normal stromal cells. endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal)." + }, + { + "input": "ovarian endometrioid stromal sarcoma", + "output": "An ovary sarcoma that arises from endometrial stromal tissue." + }, + { + "input": "vaginal endometrial stromal sarcoma", + "output": "A vagina sarcoma that has_material_basis_in endometrial stroma." + }, + { + "input": "vaginal endometrial stromal tumor", + "output": "A vaginal cancer that has_material_basis_in endometrial stroma." + }, + { + "input": "endometrium carcinoma in situ", + "output": "An in situ carcinoma that is located_in the endometrium." + }, + { + "input": "renal wilms' tumor", + "output": "Wilms tumor of the kidney characterized by the absence of nuclear anaplasia." + }, + { + "input": "metachronous kidney wilms' tumor", + "output": "Wilms tumor arising in the remaining kidney following treatment of the original wilms tumor." + }, + { + "input": "mixed cell type kidney wilms' tumor", + "output": "Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern)." + }, + { + "input": "scrotum neoplasm", + "output": "Malignant neoplasm of scrotum" + }, + { + "input": "blastema predominant kidney wilms' tumor", + "output": "Wilms tumor of the kidney characterized by the predominance of the blastema component." + }, + { + "input": "hereditary wilms' tumor", + "output": "A nephroblastoma that results_in either bilateral disease or a family history of wilms' tumour." + }, + { + "input": "epithelial predominant wilms' tumor", + "output": "Wilms tumor of the kidney characterized by the predominance of the epithelial component. the epithelial cells may form papillary and tubular patterns and pseudorosettes." + }, + { + "input": "aortitis", + "output": "Arteritis, unspecified" + }, + { + "input": "cervical wilms' tumor", + "output": "A cervical carcinosarcoma is located_in the cervix with morphological features resembling wilms tumor of the kidney." + }, + { + "input": "stromal predominant kidney wilms' tumor", + "output": "Wilms tumor of the kidney characterized by the predominance of the mesenchymal component." + }, + { + "input": "nodular ganglioneuroblastoma", + "output": "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a schwannian stroma, and the formation of hemorrhagic neuroblastic nodules." + }, + { + "input": "intermixed schwannian stroma-rich ganglioneuroblastoma", + "output": "A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a schwannian stroma, without the presence of hemorrhagic neuroblastic nodules." + }, + { + "input": "peripheral nervous system ganglioneuroblastoma", + "output": "A ganglioneuroblastoma arising from the peripheral nervous system." + }, + { + "input": "fallopian tube adenomatoid tumor", + "output": "A fallopian tube benign neoplasm that derives_from mesothelium." + }, + { + "input": "aortic disease", + "output": "An artery disease that is characterized by degeneration of the cells composing the aortic wall." + }, + { + "input": "urinary tract obstruction", + "output": "Obstructive and reflux uropathy, unspecified" + }, + { + "input": "fructose-1,6-bisphosphatase deficiency", + "output": "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis." + }, + { + "input": "monodermal teratoma", + "output": "An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm)." + }, + { + "input": "malignant struma ovarii", + "output": "A struma ovarii that is cancerous." + }, + { + "input": "congenital disorder of glycosylation", + "output": "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids." + }, + { + "input": "chronic inflammatory demyelinating polyradiculoneuropathy", + "output": "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. this affects how fast the nerve signals are transmitted and leads to loss of nerve fibers." + }, + { + "input": "demyelinating polyneuropathy", + "output": "Polyneuropathy that is characterized by demyelination of axons." + }, + { + "input": "chronic polyneuropathy", + "output": "Polyneuropathy that is persistent or long-standing in nature." + }, + { + "input": "infertility", + "output": "A reduced or absent capacity to reproduce." + }, + { + "input": "acute hemorrhagic encephalitis", + "output": "Acute encephalitis that is characterized by bleeding." + }, + { + "input": "von economo's disease", + "output": "Other specified viral encephalitis" + }, + { + "input": "hepatoerythropoietic porphyria", + "output": "A very rare form of porphyria cutanea tarda. it is characterized by deficiency of the enzyme uroporphyrinogen iii. signs and symptoms appear early in childhood and include extreme photosensitivity in the sun exposed areas of the skin with blistering and scar formation." + }, + { + "input": "aortic valve prolapse", + "output": "The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation." + }, + { + "input": "glomangiosarcoma", + "output": "A very rare morphologic variant of glomus tumor with a size greater than 2 cm. the tumor arises in subfascial or visceral tissues. it is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. it has an aggressive clinical course." + }, + { + "input": "subungual glomus tumor", + "output": "A glomus tumor arising in the finger and usually associated with pain." + }, + { + "input": "benign perivascular tumor", + "output": "A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. it is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." + }, + { + "input": "retinal hemangioblastoma", + "output": "A capillary hemangioma arising from the retina." + }, + { + "input": "hemangioblastoma", + "output": "A benign tumor of the nervous system that may occur sporadically or in association with von hippel-lindau disease. it accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. (from devita et al., cancer: principles and practice of oncology, 5th ed, pp2071-2)" + }, + { + "input": "central nervous system vasculitis", + "output": "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine." + }, + { + "input": "inflammatory leiomyosarcoma", + "output": "A leiomyosarcoma that is characterized by a prominent intristic inflammatory component." + }, + { + "input": "conventional leiomyosarcoma", + "output": "A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma." + }, + { + "input": "central nervous system leiomyosarcoma", + "output": "A leiomyosarcoma that is located_in the central nervous system." + }, + { + "input": "granular cell leiomyosarcoma", + "output": "A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm." + }, + { + "input": "colon leiomyosarcoma", + "output": "A leiomyosarcoma and sarcoma of colon that is located_in the colon." + }, + { + "input": "human immunodeficiency virus infectious disease", + "output": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in human immunodeficiency virus 1 or has_material_basis_in human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. the virus infects helper t cells (cd4+ t cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. the infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands." + }, + { + "input": "colon sarcoma", + "output": "A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon." + }, + { + "input": "heart leiomyosarcoma", + "output": "An aggressive malignant smooth muscle neoplasm, arising from the heart. it is characterized by a proliferation of neoplastic spindle cells." + }, + { + "input": "heart sarcoma", + "output": "A sarcoma and malignant neoplasm of heart that is located_in the heart." + }, + { + "input": "ovary leiomyosarcoma", + "output": "An ovary sarcoma that arises from smooth muscle progenitors." + }, + { + "input": "epithelioid leiomyosarcoma", + "output": "A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm." + }, + { + "input": "lung leiomyosarcoma", + "output": "A leiomyosarcoma and sarcoma of lung that is located_in the lung." + }, + { + "input": "anus leiomyosarcoma", + "output": "A leiomyosarcoma and sarcoma of the anus that is located_in the anus." + }, + { + "input": "myxoid leiomyosarcoma", + "output": "A leiomyosarcoma that is characterized by abundant myxoid stroma." + }, + { + "input": "small intestine leiomyosarcoma", + "output": "A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines." + }, + { + "input": "small intestinal sarcoma", + "output": "A sarcoma and malignant tumor of small intestine that is located_in the small intestine." + }, + { + "input": "cutaneous leiomyosarcoma", + "output": "A rare, mitotically active spindle cell neoplasm arising from the smooth muscle in the dermis. it has an excellent prognosis, as compared to the deep soft tissue leiomyosarcomas." + }, + { + "input": "malignant dermis tumor", + "output": "A malignancy that affects the dermis." + }, + { + "input": "gallbladder leiomyosarcoma", + "output": "A gallbladder sarcoma that is located_in the soft tissues of the gallbladder." + }, + { + "input": "esophagus leiomyosarcoma", + "output": "An aggressive malignant smooth muscle neoplasm, arising from the esophagus. it is characterized by a proliferation of neoplastic spindle cells." + }, + { + "input": "gastric leiomyosarcoma", + "output": "An aggressive malignant smooth muscle neoplasm, arising from the stomach. it is characterized by a proliferation of neoplastic spindle cells." + }, + { + "input": "prostate leiomyosarcoma", + "output": "A prostate sarcoma that is located_in the prostate." + }, + { + "input": "vagina leiomyosarcoma", + "output": "A vagina sarcoma that has_material_basis_in smooth muscle." + }, + { + "input": "breast leiomyosarcoma", + "output": "A breast sarcoma that arises from smooth muscle cells." + }, + { + "input": "vulvar leiomyosarcoma", + "output": "A vulvar sarcoma that has_material_basis_in smooth muscle cells." + }, + { + "input": "kidney leiomyosarcoma", + "output": "A leiomyosarcoma and sarcoma of kidney that is located_in the kidney." + }, + { + "input": "larynx leiomyosarcoma", + "output": "A leiomyosarcoma located_in the larynx." + }, + { + "input": "uterus leiomyosarcoma", + "output": "A uterine corpus sarcoma and leiomyosarcoma and uterine corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus." + }, + { + "input": "blepharospasm", + "output": "A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks." + }, + { + "input": "mediastinum leiomyosarcoma", + "output": "A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels." + }, + { + "input": "extrahepatic bile duct leiomyosarcoma", + "output": "A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver." + }, + { + "input": "intestinal disease", + "output": "A gastrointestinal system disease that is located_in the intestine." + }, + { + "input": "liver leiomyosarcoma", + "output": "A leiomyosarcoma and sarcoma of liver that is located_in the liver." + }, + { + "input": "rectum leiomyosarcoma", + "output": "A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum." + }, + { + "input": "endometrial clear cell adenocarcinoma", + "output": "An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm." + }, + { + "input": "pituitary gland disease", + "output": "An endocrine system disease that is located_in the pituitary gland." + }, + { + "input": "eyelid disease", + "output": "An adnexa disease that is located_in the eyelid." + }, + { + "input": "fallopian tube clear cell adenocarcinoma", + "output": "A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." + }, + { + "input": "uterine ligament clear cell adenocarcinoma", + "output": "A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." + }, + { + "input": "cervical clear cell adenocarcinoma", + "output": "A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." + }, + { + "input": "ovarian clear cell adenocarcinoma", + "output": "A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm." + }, + { + "input": "bladder clear cell adenocarcinoma", + "output": "A clear cell adenocarcinoma that is located_in the bladder." + }, + { + "input": "urethra clear cell adenocarcinoma", + "output": "A clear cell adenocarcinoma that is located_in the urethra." + }, + { + "input": "ampulla of vater clear cell adenocarcinoma", + "output": "A carcinoma with glandular differentiation arising from the ampulla of vater. morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei." + }, + { + "input": "epithelial-myoepithelial carcinoma", + "output": "A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. it is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm." + }, + { + "input": "glycogen-rich clear cell breast carcinoma", + "output": "A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen." + }, + { + "input": "vulvar alveolar soft part sarcoma", + "output": "An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva." + }, + { + "input": "fallopian tube germ cell cancer", + "output": "A fallopian tube cancer that derives_from germ cells." + }, + { + "input": "roberts syndrome", + "output": "A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the esco2 gene on chromosome 8p21.1." + }, + { + "input": "retinal detachment", + "output": "Serous retinal detachment" + }, + { + "input": "thymus gland disease", + "output": "Diseases of thymus" + }, + { + "input": "dental pulp disease", + "output": "A tooth disease located_in dental pulp." + }, + { + "input": "testicular granulosa cell tumor", + "output": "A rare sex cord-stromal tumor that arises from the testis. it is characterized by the presence of granulosa-like cells and call-exner bodies. there are two variants described, the adult and the juvenile." + }, + { + "input": "paraphimosis", + "output": "Paraphimosis" + }, + { + "input": "epulis", + "output": "A non-neoplastic nodular lesion that arises from the gingiva." + }, + { + "input": "gingival hypertrophy", + "output": "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells." + }, + { + "input": "cyclic hematopoiesis", + "output": "Cyclic neutropenia" + }, + { + "input": "anterograde amnesia", + "output": "An amnestic disorder that involves the impaired or lost ability to memorize new things." + }, + { + "input": "childhood endodermal sinus tumor", + "output": "An endodermal sinus tumor that occurs in children." + }, + { + "input": "central nervous system endodermal sinus tumor", + "output": "A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. eosinophilic hyaline globules immunoreactive for afp are a diagnostic feature. (who)" + }, + { + "input": "testicular yolk sac tumor", + "output": "A non-seminomatous malignant germ cell tumor arising from the testis. it affects infants, young children, and postpubertal males. it is the most frequently seen testicular neoplasm during childhood. the vast majority of patients present with an asymptomatic scrotal mass. the tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (afp). it metastasizes to distant anatomic sites. prognostic factors relate to the clinical stage and the degree of afp elevation." + }, + { + "input": "testicular non-seminomatous germ cell cancer", + "output": "A classification of testicular cancers that arise in specialized sex cells called germ cells. nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor." + }, + { + "input": "adult endodermal sinus tumor", + "output": "An endodermal sinus tumor that occurs in adults." + }, + { + "input": "central nervous system adult germ cell tumor", + "output": "A germ cell tumor of the central nervous system occurring in adults." + }, + { + "input": "sleep disorder", + "output": "A disease of mental health that involves disruption of sleep patterns." + }, + { + "input": "ovarian endodermal sinus tumor", + "output": "An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo." + }, + { + "input": "ovarian primitive germ cell tumor", + "output": "A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells." + }, + { + "input": "colonic disease", + "output": "A intestinal disease located in the colon." + }, + { + "input": "focal epithelial hyperplasia", + "output": "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." + }, + { + "input": "myxoid liposarcoma", + "output": "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations." + }, + { + "input": "pulmonary coin lesion", + "output": "Solitary pulmonary nodule" + }, + { + "input": "wolffian duct adenocarcinoma", + "output": "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts." + }, + { + "input": "breast hemangiopericytoma", + "output": "A hemangiopericytoma that is manifested in the breast." + }, + { + "input": "retroperitoneal hemangiopericytoma", + "output": "A benign or malignant hemangiopericytoma arising from the retroperitoneum." + }, + { + "input": "pilomatrixoma", + "output": "A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. it is a relatively uncommon tumor, which may occur at any age from infancy. the majority of patients are under 20, and females are affected more than males. the lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (from rook et al., textbook of dermatology, 4th ed, p2401)" + }, + { + "input": "hair follicle neoplasm", + "output": "A benign or malignant neoplasm arising from the hair follicle." + }, + { + "input": "skin pilomatrix carcinoma", + "output": "A very rare, locally aggressive, malignant neoplasm of the hair follicle. the majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. it usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. masses of ghost cells are present in the cellular aggregates. complete surgical excision is the treatment of choice. if it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites." + }, + { + "input": "hemoglobin d disease", + "output": "Other hemoglobinopathies" + }, + { + "input": "hemoglobin e disease", + "output": "Other hemoglobinopathies" + }, + { + "input": "internuclear ophthalmoplegia", + "output": "Internuclear ophthalmoplegia" + }, + { + "input": "bile duct adenoma", + "output": "A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma." + }, + { + "input": "bartholin's gland adenoma", + "output": "A bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue." + }, + { + "input": "bile duct cystadenoma", + "output": "A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells." + }, + { + "input": "mixed cell adenoma", + "output": "An adenoma that has_material_basis_in more than one cell type." + }, + { + "input": "lung adenoma", + "output": "A lung benign neoplasm that derives_from glandular epithelial cells." + }, + { + "input": "middle ear adenoma", + "output": "A sensory organ benign neoplasm that is located_in the middle ear." + }, + { + "input": "oxyphilic adenoma", + "output": "A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant mitochondria. oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. in the thyroid gland, oxyphil cells are known as hurthle cells and askanazy cells." + }, + { + "input": "ophthalmoplegia", + "output": "Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles." + }, + { + "input": "clear cell adenoma", + "output": "An adenoma that is composed_of cells with a clear cytoplasm located_in ovary." + }, + { + "input": "bronchus adenoma", + "output": "Cancer that forms in tissues of the bronchi (large air passages in the lungs including those that lead to the lungs from the windpipe)." + }, + { + "input": "acidophil adenoma", + "output": "A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. a specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (dorland, 27th ed)" + }, + { + "input": "brain angioma", + "output": "A hemangioma arising from the brain." + }, + { + "input": "prolactinoma", + "output": "A pituitary adenoma which secretes prolactin, leading to hyperprolactinemia. clinical manifestations include amenorrhea; galactorrhea; impotence; headache; visual disturbances; and cerebrospinal fluid rhinorrhea." + }, + { + "input": "functioning pituitary adenoma", + "output": "A hormone producing pituitary gland adenoma, associated with a hormonal syndrome." + }, + { + "input": "prolactin producing pituitary tumor", + "output": "A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin." + }, + { + "input": "lipoadenoma", + "output": "An adenoma that is composed_of epithelial cells admixed with adipose tissue cells." + }, + { + "input": "strabismus", + "output": "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object." + }, + { + "input": "water-clear cell adenoma", + "output": "An adenoma that derives_from epithelial cells which have clear cytoplasm." + }, + { + "input": "vaginal adenoma", + "output": "A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin." + }, + { + "input": "microcystic adenoma", + "output": "A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells." + }, + { + "input": "paget's disease of bone", + "output": "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs." + }, + { + "input": "lung small cell carcinoma", + "output": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung." + }, + { + "input": "pulmonary neuroendocrine tumor", + "output": "A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. this category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma." + }, + { + "input": "lung oat cell carcinoma", + "output": "An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. it is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (from stedman, 25th ed; holland et al., cancer medicine, 3d ed, p1286-7)" + }, + { + "input": "lung occult small cell carcinoma", + "output": "A small cell lung carcinoma detectable by sputum cytology only. the primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." + }, + { + "input": "schizoaffective disorder", + "output": "A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality." + }, + { + "input": "schizophrenia", + "output": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." + }, + { + "input": "lung combined type small cell carcinoma", + "output": "A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells." + }, + { + "input": "ovarian hyperstimulation syndrome", + "output": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. this disease is an iatrogenic complication of assisted reproduction technology." + }, + { + "input": "primary ovarian insufficiency", + "output": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40." + }, + { + "input": "urinary bladder villous adenoma", + "output": "An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. it often coexists with in situ or infiltrating bladder adenocarcinoma." + }, + { + "input": "bladder flat intraepithelial lesion", + "output": "A flat urothelial lesion of variable thickness in the bladder, devoid of papillary structures containing cytologically malignant cells. (who 2016)" + }, + { + "input": "dystonia", + "output": "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements." + }, + { + "input": "bladder papillary transitional cell neoplasm", + "output": "A neoplasm with papillary architectural pattern arising from the bladder urothelial cells." + }, + { + "input": "urinary tract papillary transitional cell benign neoplasm", + "output": "An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. this lesion may recur after complete excision. transitional cell carcinomas may arise within inverted urothelial papillomas." + }, + { + "input": "scrapie", + "output": "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. it is caused by proteinaceous infectious particles called prions." + }, + { + "input": "variant creutzfeldt-jakob disease", + "output": "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. affected animals develop excitability and salivation followed by ataxia. this disorder has been associated with consumption of scrapie infected ruminant derived protein. this condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (vet rec 1998 jul 25;143(41):101-5)" + }, + { + "input": "intrahepatic bile duct adenoma", + "output": "A bile duct adenoma located_in an intrahepatic bile duct." + }, + { + "input": "extrahepatic bile duct adenoma", + "output": "A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium." + }, + { + "input": "papillary hidradenoma", + "output": "A benign neoplasm arising from the sweat glands. it presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. it is characterized by the presence of cystic and large papillary structures. the papillary structures contain connective tissue and are covered by two layers of epithelium. complete excision is curative." + }, + { + "input": "eccrine acrospiroma", + "output": "A benign epithelial neoplasm arising from the sweat glands. it presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. it is characterized by a nodular growth pattern. complete excision is curative." + }, + { + "input": "clear cell hidradenoma", + "output": "An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells." + }, + { + "input": "spiradenoma", + "output": "A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. it usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. it is characterized by the presence of basaloid cells forming nodules in the dermis. cases of carcinoma arising from long standing spiradenomas have been reported." + }, + { + "input": "syringocystadenoma papilliferum", + "output": "A benign adnexal neoplasm occurring during childhood or adolescence. it usually presents as a papular lesion or a plaque on the head and neck. it may arise in an organoid nevus such as sebaceous. it is characterized by an endophytic invagination of the epithelium into the dermis. there are dermal cystic spaces present, containing villous projections. complete excision is curative." + }, + { + "input": "eccrine papillary adenoma", + "output": "A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time." + }, + { + "input": "pulmonary venoocclusive disease", + "output": "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension." + }, + { + "input": "laryngeal neuroendocrine tumor", + "output": "A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. this category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma." + }, + { + "input": "cochlear disease", + "output": "Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph)." + }, + { + "input": "conjunctival intraepithelial neoplasm", + "output": "A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium." + }, + { + "input": "conjunctival cancer", + "output": "Malignant neoplasm of conjunctiva" + }, + { + "input": "biliary papillomatosis", + "output": "A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree." + }, + { + "input": "ovarian serous adenofibroma", + "output": "An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid." + }, + { + "input": "uterine corpus adenofibroma", + "output": "An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." + }, + { + "input": "cervical adenofibroma", + "output": "A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." + }, + { + "input": "clear cell adenofibroma", + "output": "An adenofibroma that is characterized by the presence of cells with clear cytoplasm." + }, + { + "input": "fallopian tube adenofibroma", + "output": "A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." + }, + { + "input": "papillary adenofibroma", + "output": "An adenofibroma that is characterized by finger-like projections on histology." + }, + { + "input": "ovarian endometrioid adenofibroma", + "output": "An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue." + }, + { + "input": "cystadenofibroma", + "output": "An ovarian benign neoplasm that is composed_of epithelial ovarian tissue." + }, + { + "input": "synovial sarcoma", + "output": "A synovium cancer which develops in the synovial membrane of the joints." + }, + { + "input": "spindle cell synovial sarcoma", + "output": "A synovial sarcoma characterized by the presence of a spindle cell component only." + }, + { + "input": "mediastinum synovial sarcoma", + "output": "A synovial sarcoma that is located_in the mediastinum." + }, + { + "input": "biphasic synovial sarcoma", + "output": "A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component." + }, + { + "input": "epithelioid cell synovial sarcoma", + "output": "A synovial sarcoma characterized by the presence of an epithelial cell component only. the epithelial cells are arranged in glandular or papillary structures." + }, + { + "input": "monophasic synovial sarcoma", + "output": "A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only." + }, + { + "input": "cellular ependymoma", + "output": "An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo." + }, + { + "input": "pediculus humanus capitis infestation", + "output": "A lice infestation that involves colonization of the hair and skin by the parasitic insect pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. the symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability." + }, + { + "input": "lice infestation", + "output": "A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order phthiraptera." + }, + { + "input": "spinal cord ependymoma", + "output": "A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal." + }, + { + "input": "tanycytic ependymoma", + "output": "A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its em characteristics are ependymal. (adapted from who.)" + }, + { + "input": "papillary ependymoma", + "output": "A rare variant of ependymoma characterized by well formed papillae. tumor cell processes abutting capillaries are usually gfap-positive. differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (adapted from who)" + }, + { + "input": "brain stem ependymoma", + "output": "A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells." + }, + { + "input": "toxic pneumonitis", + "output": "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." + }, + { + "input": "dysgerminoma of ovary", + "output": "A dysgerminoma that is located_in the ovary." + }, + { + "input": "pediculus humanus corporis infestation", + "output": "A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice pediculus humanus corporis, which feed on the human blood. body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever." + }, + { + "input": "breast squamous cell carcinoma", + "output": "A breast metaplastic carcinoma that arises from squamous epithelial cells." + }, + { + "input": "nasal cavity squamous cell carcinoma", + "output": "A nasal cavity carcinoma that has_material_basis_in squamous cells." + }, + { + "input": "gastric squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the stomach." + }, + { + "input": "stomach carcinoma", + "output": "A stomach cancer that is located_in the stomach." + }, + { + "input": "penis squamous cell carcinoma", + "output": "A penis carcinoma that has_material_basis_in squamous cells." + }, + { + "input": "colon squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the colon." + }, + { + "input": "pneumonia", + "output": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). it results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. it is accompanied by fever, chills, cough, and difficulty in breathing." + }, + { + "input": "head and neck squamous cell carcinoma", + "output": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." + }, + { + "input": "keratinizing squamous cell carcinoma", + "output": "A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris." + }, + { + "input": "basaloid squamous cell carcinoma", + "output": "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. it has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma." + }, + { + "input": "adenoid squamous cell carcinoma", + "output": "A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis." + }, + { + "input": "anal squamous cell carcinoma", + "output": "An anal carcinoma that arises near the squamocolumnar junction." + }, + { + "input": "middle ear squamous cell carcinoma", + "output": "A middle ear carcinoma that has_material_basis_in squamous cells." + }, + { + "input": "ampulla of vater squamous cell carcinoma", + "output": "An ampulla of vater carcinoma that derives_from epithelial squamous cells." + }, + { + "input": "rectum squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the rectum." + }, + { + "input": "lacrimal gland squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the lacrimal gland." + }, + { + "input": "thymus squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the thymus." + }, + { + "input": "ovarian squamous cell carcinoma", + "output": "An ovarian carcinoma that derives_from squamous epithelial cells." + }, + { + "input": "endometrial squamous cell carcinoma", + "output": "An endometrial carcinoma that has_material_basis_in squamous cells." + }, + { + "input": "renal pelvis squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the renal pelvis." + }, + { + "input": "gallbladder squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the gallbladder." + }, + { + "input": "sarcomatoid squamous cell skin carcinoma", + "output": "A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features." + }, + { + "input": "squamous cell bile duct carcinoma", + "output": "A squamous cell carcinoma that is located_in the bile duct." + }, + { + "input": "external ear squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the external ear." + }, + { + "input": "ureter squamous cell carcinoma", + "output": "A squamous cell carcinoma that is located_in the ureter." + }, + { + "input": "fallopian tube squamous cell carcinoma", + "output": "A fallopian tube carcinoma that derives_from squamous epithelial cells." + }, + { + "input": "anal neuroendocrine tumor", + "output": "A neoplasm with neuroendocrine differentiation that arises from the anal canal. it includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." + }, + { + "input": "femoral cancer", + "output": "A bone cancer that is located_in the femur." + }, + { + "input": "pulmonary artery choriocarcinoma", + "output": "A choriocarcinoma that is located_in the pulmonary artery." + }, + { + "input": "choriocarcinoma of ovary", + "output": "A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells." + }, + { + "input": "choriocarcinoma of the testis", + "output": "A choriocarcinoma that is located_in the testis." + }, + { + "input": "testicular malignant germ cell cancer", + "output": "A malignant tumor predominantly affecting young men and often associated with cryptorchidism. seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor." + }, + { + "input": "testicular germ cell cancer", + "output": "A testicular cancer that has_material_basis_in germ cells." + }, + { + "input": "mediastinal cancer", + "output": "A thoracic cancer that is located_in the mediastinum." + }, + { + "input": "mediastinal mesenchymal tumor", + "output": "A benign or malignant soft tissue neoplasm of the mediastinum. representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma." + }, + { + "input": "gastric teratoma", + "output": "A teratoma that is located_in the stomach or other gastric tissue." + }, + { + "input": "malignant teratoma", + "output": "A teratoma that is cancerous." + }, + { + "input": "fallopian tube teratoma", + "output": "A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers." + }, + { + "input": "adult teratoma", + "output": "A benign teratoma that is present in an adult." + }, + { + "input": "mature teratoma", + "output": "A teratoma that is composed exclusively of mature tissues derived from two or three germ layers." + }, + { + "input": "ovarian germ cell teratoma", + "output": "A benign, immature, or malignant teratoma arising from the ovary." + }, + { + "input": "mediastinum teratoma", + "output": "A teratoma that is located_in the mediastinum." + }, + { + "input": "kidney disease", + "output": "A urinary system disease that is located_in the kidney." + }, + { + "input": "malignant acrospiroma", + "output": "An adenocarcinoma that arises from eccrine glands." + }, + { + "input": "beckwith-wiedemann syndrome", + "output": "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations." + }, + { + "input": "vipoma", + "output": "A tumor that secretes vasoactive intestinal peptide, a neuropeptide that causes vasodilation; relaxation of smooth muscles; watery diarrhea; hypokalemia; and hypochlorhydria. vipomas, derived from the pancreatic islet cells, generally are malignant and can secrete other hormones. in most cases, vipomas are located in the pancreas but can be found in extrapancreatic sites." + }, + { + "input": "inhibited male orgasm", + "output": "Male orgasmic disorder" + }, + { + "input": "gastrinoma", + "output": "A neuroendocrine tumor that results_in an overproduction of gastric acid." + }, + { + "input": "gastric gastrinoma", + "output": "A well differentiated neuroendocrine tumor that arises from the stomach. it produces gastrin and it may be associated with zollinger-ellison syndrome." + }, + { + "input": "pancreatic gastrinoma", + "output": "A neuroendocrine tumor arising from the pancreas. it is characterized by inappropriate secretion of gastrin and associated with zollinger ellison syndrome. the latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption." + }, + { + "input": "lung giant cell carcinoma", + "output": "A lung carcinoma that is located_in large undifferentiated cells." + }, + { + "input": "ferguson-smith tumor", + "output": "A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. it has been described almost exclusively in families of scottish origin. it is caused by a mutation in the tumor-suppressing gene, tgfbr1, on chromosome 9. clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. the regression of the lesions leaves pitting cicatrices but no other known sequelae." + }, + { + "input": "volkmann contracture", + "output": "A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles." + }, + { + "input": "lung papillary adenocarcinoma", + "output": "A papillary adenocarcinoma that is located_in the lung." + }, + { + "input": "acute pyelonephritis", + "output": "Acute pyelonephritis" + }, + { + "input": "aggressive digital papillary adenocarcinoma", + "output": "A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential." + }, + { + "input": "breast papillary carcinoma", + "output": "A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass." + }, + { + "input": "gastric papillary adenocarcinoma", + "output": "A papillary adenocarcinoma that is located_in the stomach." + }, + { + "input": "papillary thymic adenocarcinoma", + "output": "A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern." + }, + { + "input": "fallopian tube papillary adenocarcinoma", + "output": "A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern." + }, + { + "input": "fallopian tube serous adenocarcinoma", + "output": "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." + }, + { + "input": "jaw-winking syndrome", + "output": "A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw." + }, + { + "input": "t-cell adult acute lymphocytic leukemia", + "output": "An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in t cells." + }, + { + "input": "t-cell acute lymphoblastic leukemia", + "output": "An acute lymphoblastic leukemia that is characterized by too many t-cell lymphoblasts found in the bone marrow and blood." + }, + { + "input": "adult acute lymphocytic leukemia", + "output": "An acute lymphocytic leukemia occurring during adulthood." + }, + { + "input": "breast medullary carcinoma", + "output": "A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology." + }, + { + "input": "dental pulp calcification", + "output": "Pulp degeneration" + }, + { + "input": "spinal cancer", + "output": "A central nervous system cancer that is located_in the spinal cord. it is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer)." + }, + { + "input": "eye disease", + "output": "An eye and adnexa disease that is located_in the eye." + }, + { + "input": "spinal canal intradural extramedullary neoplasm", + "output": "A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. representative examples include meningioma, neurofibroma, and sarcoma. signs and symptoms include local and radicular pain, weakness and spinal cord compression." + }, + { + "input": "third cranial nerve disease", + "output": "A non-neoplastic or neoplastic disorder affecting the oculomotor nerve (third cranial nerve)." + }, + { + "input": "histiocytic and dendritic cell cancer", + "output": "A sarcoma and hematologic cancer that derives_from follicular lymphoma." + }, + { + "input": "adenosquamous breast carcinoma", + "output": "A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma." + }, + { + "input": "adenosquamous bile duct carcinoma", + "output": "A bile duct carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "esophageal adenosquamous carcinoma", + "output": "An esophageal carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "thymus adenosquamous carcinoma", + "output": "A thymic carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "adenosquamous gallbladder carcinoma", + "output": "A gallbladder carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "ampulla of vater adenosquamous carcinoma", + "output": "An ampulla of vater carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "adenosquamous colon carcinoma", + "output": "A colon carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "bartholin's gland adenosquamous carcinoma", + "output": "A bartholin's gland carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "endometrial adenosquamous carcinoma", + "output": "An endometrial carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "optic nerve sheath meningioma", + "output": "A meningioma that affects the sheath of the optic nerve." + }, + { + "input": "adenosquamous prostate carcinoma", + "output": "A prostate carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "gastric adenosquamous carcinoma", + "output": "A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation." + }, + { + "input": "cervical adenosquamous carcinoma", + "output": "A cervical carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "pancreatic adenosquamous carcinoma", + "output": "A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells." + }, + { + "input": "malignant giant cell tumor of soft parts", + "output": "An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism." + }, + { + "input": "rete testis neoplasm", + "output": "A benign or malignant neoplasm that affects the rete testis. representative examples include adenoma and adenocarcinoma." + }, + { + "input": "diffuse pulmonary fibrosis", + "output": "A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation." + }, + { + "input": "localized pulmonary fibrosis", + "output": "A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation." + }, + { + "input": "urethral villous adenoma", + "output": "An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern." + }, + { + "input": "tricuspid valve prolapse", + "output": "Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. this allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus." + }, + { + "input": "choroid plexus carcinoma", + "output": "A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus." + }, + { + "input": "chiasmal syndrome", + "output": "An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve." + }, + { + "input": "cranial nerve disease", + "output": "A neuropathy that is located_in one of the twelve cranial nerves." + }, + { + "input": "lipid-rich carcinoma", + "output": "A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids." + }, + { + "input": "labyrinthine dysfunction", + "output": "Labyrinthine dysfunction" + }, + { + "input": "lymphoepithelioma-like carcinoma", + "output": "A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells." + }, + { + "input": "pleomorphic carcinoma", + "output": "A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma." + }, + { + "input": "external ear cancer", + "output": "An ear cancer that is located_in the external ear." + }, + { + "input": "sweat gland carcinoma", + "output": "A carcinoma arising from the sweat glands. representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma." + }, + { + "input": "comedo carcinoma", + "output": "A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells." + }, + { + "input": "large intestine cancer", + "output": "An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other." + }, + { + "input": "cribriform carcinoma", + "output": "A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade i in at least 90% of cells, and absent myoepithelial cells." + }, + { + "input": "malignant extragonadal nonseminomatous germ cell tumor", + "output": "An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen." + }, + { + "input": "retinal disease", + "output": "An eye disease that is located_in the retina." + }, + { + "input": "embryonal testis carcinoma", + "output": "An embryonal carcinoma that is located_in the testis." + }, + { + "input": "ovarian embryonal carcinoma", + "output": "An embryonal carcinoma that is located_in the ovary." + }, + { + "input": "hereditary breast ovarian cancer syndrome", + "output": "A syndrome characterized by the higher than normal tendency associated with brca1 and brca2 to develop breast and ovarian cancers in genetically related families." + }, + { + "input": "spondyloepimetaphyseal dysplasia, sponastrime type", + "output": "A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance." + }, + { + "input": "werner syndrome", + "output": "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the wrn gene, on chromosome 8." + }, + { + "input": "well-differentiated liposarcoma", + "output": "A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes." + }, + { + "input": "visual cortex disease", + "output": "Disorders of visual cortex" + }, + { + "input": "cellular myxoid liposarcoma", + "output": "A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma." + }, + { + "input": "adult liposarcoma", + "output": "A malignant neoplasm arising from adipocytes, that occurs in adults. the tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." + }, + { + "input": "esophagus liposarcoma", + "output": "A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. it arises from the mucosal and submucosal layers of the lower esophagus. clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation." + }, + { + "input": "childhood liposarcoma", + "output": "A rare malignant neoplasm arising from adipocytes, that occurs in children. the tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma." + }, + { + "input": "larynx liposarcoma", + "output": "A liposarcoma that is located_in the larynx." + }, + { + "input": "liposarcoma of the ovary", + "output": "An ovary sarcoma that arises from fatty tissue." + }, + { + "input": "fibroblastic liposarcoma", + "output": "A liposarcoma characterized by the presence of a fibroblastic component." + }, + { + "input": "kidney liposarcoma", + "output": "A liposarcoma that is located_in the kidney." + }, + { + "input": "aortic valve insufficiency", + "output": "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." + }, + { + "input": "gastric liposarcoma", + "output": "A malignant adipose tissue neoplasm of the stomach." + }, + { + "input": "breast liposarcoma", + "output": "A breast sarcoma that arises from fat cells." + }, + { + "input": "pleomorphic liposarcoma", + "output": "A liposarcoma characterized by the presence of varying proportions of pleomorphic lipoblasts in a background that resembles undifferentiated pleomorphic sarcoma. it is the rarest liposarcoma variant and usually has an aggressive clinical course." + }, + { + "input": "mixed liposarcoma", + "output": "A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma." + }, + { + "input": "sclerosing liposarcoma", + "output": "A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. it is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma." + }, + { + "input": "spindle cell liposarcoma", + "output": "A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma." + }, + { + "input": "mixed-type liposarcoma", + "output": "A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. this category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma." + }, + { + "input": "median neuropathy", + "output": "Other lesions of median nerve, unspecified upper limb" + }, + { + "input": "vulvar liposarcoma", + "output": "A vulvar sarcoma that has_material_basis_in adipocytes." + }, + { + "input": "cutaneous liposarcoma", + "output": "A malignant adipose tissue neoplasm of the skin." + }, + { + "input": "mediastinum liposarcoma", + "output": "A liposarcoma that is located_in the mediastinum." + }, + { + "input": "intracranial liposarcoma", + "output": "A malignant adipose tissue neoplasm of the intracranial region." + }, + { + "input": "functionless pituitary adenoma", + "output": "A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome." + }, + { + "input": "hormone producing pituitary cancer", + "output": "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone." + }, + { + "input": "adrenal neuroblastoma", + "output": "An adrenal gland cancer that derives_from immature neuroblastic cells." + }, + { + "input": "adrenal medulla cancer", + "output": "An adrenal gland cancer that is located_in the adrenal medulla." + }, + { + "input": "optic atrophy", + "output": "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve." + }, + { + "input": "seminal vesicle cystadenoma", + "output": "A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle." + }, + { + "input": "rete ovarii cystadenoma", + "output": "A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces." + }, + { + "input": "uterine ligament papillary cystadenoma associated with von hippel-lindau disease", + "output": "A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections." + }, + { + "input": "uterine ligament cancer", + "output": "A uterine cancer that is located_in the ligaments that support the uterus." + }, + { + "input": "diffuse peritoneal leiomyomatosis", + "output": "A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle." + }, + { + "input": "intravenous leiomyomatosis", + "output": "A leiomyomatosis that is located within the blood vessels." + }, + { + "input": "nerve compression syndrome", + "output": "Mechanical compression of nerves or nerve roots from internal or external causes. these may result in a conduction block to nerve impulses (due to myelin sheath dysfunction) or axonal loss. the nerve and nerve sheath injuries may be caused by ischemia; inflammation; or a direct mechanical effect." + }, + { + "input": "salpingitis isthmica nodosa", + "output": "A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation." + }, + { + "input": "chronic salpingitis", + "output": "Chronic salpingitis" + }, + { + "input": "pyosalpinx", + "output": "Salpingitis and oophoritis" + }, + { + "input": "salpingitis", + "output": "A fallopian tube disease that is characterized by inflammation of the fallopian tube." + }, + { + "input": "peripheral nervous system disease", + "output": "A nervous system disease that affects the peripheral nervous system." + }, + { + "input": "small intestinal vasoactive intestinal peptide producing tumor", + "output": "A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide." + }, + { + "input": "pancreatic vasoactive intestinal peptide producing tumor", + "output": "A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (vip). it is associated with watery diarrhea, hypokalemia, and hypochlorhydria or achlorhydria. one third of cases are metastatic at the time of diagnosis." + }, + { + "input": "pancreatic acinar cell adenocarcinoma", + "output": "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase." + }, + { + "input": "acinic cell breast carcinoma", + "output": "A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation." + }, + { + "input": "ovary serous adenocarcinoma", + "output": "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity)." + }, + { + "input": "ovarian serous cystadenocarcinoma", + "output": "An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed." + }, + { + "input": "uterine ligament serous adenocarcinoma", + "output": "A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." + }, + { + "input": "rheumatic pulmonary valve disease", + "output": "Other specified rheumatic heart diseases" + }, + { + "input": "pulmonary valve disease", + "output": "A heart disorder characterized by a defect in pulmonary valve structure or function." + }, + { + "input": "endometrial serous adenocarcinoma", + "output": "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia." + }, + { + "input": "pancreatic serous cystadenocarcinoma", + "output": "A serous cystadenocarcinoma tha tis located_in the pancreas." + }, + { + "input": "cervical serous adenocarcinoma", + "output": "A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions." + }, + { + "input": "endocervicitis", + "output": "A cervicitis that is located_in the endocervix." + }, + { + "input": "malignant mesenchymoma", + "output": "A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation." + }, + { + "input": "sebaceous gland neoplasm", + "output": "New abnormal growth of tissue in the sebaceous glands." + }, + { + "input": "proteinuria", + "output": "A kidney disease that is characterized by the presence of excess proteins in the urine." + }, + { + "input": "sebaceous breast carcinoma", + "output": "A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. it is a distinct variant of invasive ductal carcinoma." + }, + { + "input": "vulvar sebaceous carcinoma", + "output": "A vulva carcinoma that is characterized by the presence of sebaceous secretions." + }, + { + "input": "lung clear cell-sugar-tumor", + "output": "A rare benign lung tumor with perivascular epithelioid cell differentiation. it is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. the vast majority of patients are asymptomatic and the tumors are discovered incidentally. excision is curative." + }, + { + "input": "lung meningioma", + "output": "A primary or metastatic meningioma that is present in the lung. the lung is the most frequent site of metastasis of meningiomas." + }, + { + "input": "pulmonary sclerosing hemangioma", + "output": "A benign tumor that arises from the lung. it is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type ii pneumocytes. cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. in the majority of cases, it is a solitary and peripheral tumor. patients are usually asymptomatic." + }, + { + "input": "hilar lung neoplasm", + "output": "A benign or malignant neoplasm that arises from the hilar region of the lung." + }, + { + "input": "nager acrofacial dysostosis", + "output": "An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children." + }, + { + "input": "verruciform xanthoma of skin", + "output": "A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages." + }, + { + "input": "central nervous system hematologic cancer", + "output": "A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system." + }, + { + "input": "oral submucous fibrosis", + "output": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues." + }, + { + "input": "giant hemangioma", + "output": "A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage." + }, + { + "input": "cavernous hemangioma of colon", + "output": "A cavernous hemangioma arising from the colon." + }, + { + "input": "cavernous hemangioma of face", + "output": "A cavernous hemangioma arising from the face." + }, + { + "input": "rectum neuroendocrine neoplasm", + "output": "A neoplasm with neuroendocrine differentiation that arises from the rectum. it includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." + }, + { + "input": "atrophic flaccid tympanic membrane", + "output": "Atrophic flaccid tympanic membrane" + }, + { + "input": "tympanic membrane disease", + "output": "Unspecified disorder of tympanic membrane" + }, + { + "input": "esophageal neuroendocrine tumor", + "output": "A neoplasm with neuroendocrine differentiation that arises from the esophagus. it includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." + }, + { + "input": "mixed hepatoblastoma", + "output": "A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component." + }, + { + "input": "macrotrabecular hepatoblastoma", + "output": "A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae." + }, + { + "input": "uric acid nephrolithiasis", + "output": "A nephrolithiasis that is characterized by stones composed predominantly uric acid." + }, + { + "input": "discrete subaortic stenosis", + "output": "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. it is characterized by restricted outflow from the left ventricle into the aorta." + }, + { + "input": "subvalvular aortic stenosis", + "output": "An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction." + }, + { + "input": "childhood parosteal osteogenic sarcoma", + "output": "A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. it occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. painless swelling is the usual clinical sign. the prognosis is usually excellent." + }, + { + "input": "adenosine deaminase deficiency", + "output": "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ada), necessary for the breakdown of purines. lack of ada causes accumulation of datp." + }, + { + "input": "mhc class ii deficiency", + "output": "A severe combined immunodeficiency that is characterized by deficiency of mhc class ii molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the ciita, rfx5, rfxank, and rfxap genes." + }, + { + "input": "purine nucleoside phosphorylase deficiency", + "output": "A combined t cell and b cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the pnp gene and characterized mainly by decreased t-cell function." + }, + { + "input": "cerebral lymphoma", + "output": "A cerebrum cancer that affects the lymph cells and derives_from the brain." + }, + { + "input": "hemoglobinuria", + "output": "Hemoglobinuria" + }, + { + "input": "composite lymphoma", + "output": "A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time." + }, + { + "input": "methotrexate-associated lymphoproliferation", + "output": "A lymphoproliferative disorder that develops in patients who are immunosuppressed with methotrexate. this disorder is often epstein-barr virus positive, and morphologically it may resemble large b-cell non-hodgkin lymphoma, hodgkin lymphoma, or a polymorphous post-transplant lymphoproliferative disorder. (who, 2001)" + }, + { + "input": "gray zone lymphoma", + "output": "A lymphoma that is characterized by having cellular features of both classic hodgkin's lymphomas and large b-cell lymphomas." + }, + { + "input": "childhood lymphoma", + "output": "A hodgkin or non-hodgkin lymphoma that occurs during childhood." + }, + { + "input": "adult lymphoma", + "output": "A lymphoma that occurs in adults." + }, + { + "input": "breast lymphoma", + "output": "A breast cancer that arises_from lymphocytes." + }, + { + "input": "endometrioid ovary carcinoma", + "output": "An ovary adenocarcinoma that has_material_basis_in endometrial tissue." + }, + { + "input": "uterine ligament endometrioid adenocarcinoma", + "output": "A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin." + }, + { + "input": "hemolytic anemia", + "output": "A condition of inadequate circulating red blood cells (anemia) or insufficient hemoglobin due to premature destruction of red blood cells (erythrocytes)." + }, + { + "input": "cervical endometrioid adenocarcinoma", + "output": "A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin." + }, + { + "input": "fallopian tube endometrioid adenocarcinoma", + "output": "A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin." + }, + { + "input": "spermatocytoma", + "output": "A testicular germ cell tumor derived from postpubertal-type germ cells. it is characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. the neoplastic cells are not cohesive. there is an edematous stroma present; lymphocytic infiltrates are rarely seen. most patients are older males." + }, + { + "input": "testis seminoma", + "output": "A radiosensitive, malignant neoplasm of the testis, thought to be derived from primordial germ cells of the sexually undifferentiated embryonic gonad. there are three variants: classical (typical), the most common type; anaplastic; and spermatocytic. the classical seminoma is composed of fairly well differentiated sheets or cords of uniform polygonal or round cells (seminoma cells), each cell having abundant clear cytoplasm, distinct cell membranes, a centrally placed round nucleus, and one or more nucleoli. in the female, a grossly and histologically identical neoplasm, known as dysgerminoma, occurs. (dorland, 27th ed)" + }, + { + "input": "posteroinferior myocardial infarction", + "output": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart." + }, + { + "input": "myocardial infarction", + "output": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." + }, + { + "input": "apical myocardial infarction", + "output": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart." + }, + { + "input": "subendocardial myocardial infarction", + "output": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart." + }, + { + "input": "nephrolithiasis", + "output": "A kidney disease characterized by the formation of stoney concentrations in the kidneys." + }, + { + "input": "inferior myocardial infarction", + "output": "Myocardial infarction in which the inferior wall of the heart is involved. it is often caused by occlusion of the right coronary artery." + }, + { + "input": "posterolateral myocardial infarction", + "output": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart." + }, + { + "input": "inferolateral myocardial infarct", + "output": "An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart." + }, + { + "input": "silent myocardial infarction", + "output": "A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings." + }, + { + "input": "localized chondrosarcoma", + "output": "A non-disseminated skeletal or extraskeletal chondrosarcoma." + }, + { + "input": "juxtacortical chondrosarcoma", + "output": "A chondrosarcoma arising from the surface of bone. it is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. it occurs in adults. clinical presentation includes pain, and sometimes swelling." + }, + { + "input": "clear cell chondrosarcoma", + "output": "A chondrosarcoma of adolescence to old age of the proximal epiphyses of long bones. it has variably clear cytoplasm of the mostly neoplastic chondrocytes with little intervening matrix." + }, + { + "input": "eosinophilic pneumonia", + "output": "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." + }, + { + "input": "retroperitoneal cancer", + "output": "A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum." + }, + { + "input": "apocrine sweat gland neoplasm", + "output": "A benign or malignant sweat gland neoplasm with apocrine differentiation. representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma." + }, + { + "input": "endocardium cancer", + "output": "A malignant neoplasm that affects the endocardium." + }, + { + "input": "benign intermediate mesothelioma", + "output": "A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. cases arising from the peritoneum predominantly occur in women. it is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. mitotic figures are not present. there is no evidence of severe cytologic atypia. it has a relatively favorable clinical outcome, compared to malignant mesothelioma." + }, + { + "input": "congenital hemolytic anemia", + "output": "Hereditary hemolytic anemia, unspecified" + }, + { + "input": "malignant adult ependymoma", + "output": "An anaplastic ependymoma occurring in adults." + }, + { + "input": "childhood malignant mesenchymoma", + "output": "A malignant mesenchymoma occurring in children." + }, + { + "input": "adult malignant mesenchymoma", + "output": "A malignant mesenchymoma occurring in adults." + }, + { + "input": "clear cell cystadenofibroma", + "output": "A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm." + }, + { + "input": "ovarian clear cell cystadenofibroma", + "output": "An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces." + }, + { + "input": "ovarian clear cell adenofibroma", + "output": "An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." + }, + { + "input": "meningeal melanocytoma", + "output": "A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges." + }, + { + "input": "penis verrucous carcinoma", + "output": "A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. it is characterized by the presence of acanthosis and hyperkeratosis. the neoplastic infiltrate extends into the underlying stroma with a pushing border. koilocytotic atypia is not present." + }, + { + "input": "phobic disorder", + "output": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation." + }, + { + "input": "nonencapsulated sclerosing carcinoma", + "output": "A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. it is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration." + }, + { + "input": "uterus intravascular leiomyomatosis", + "output": "An uterine corpus leiomyomatosis that is located_in the blood vessels." + }, + { + "input": "uterine corpus leiomyomatosis", + "output": "An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells." + }, + { + "input": "uterine corpus diffuse leiomyomatosis", + "output": "An uterine corpus leiomyomatosis that is located throughout the uterine corpus." + }, + { + "input": "adult brainstem mixed glioma", + "output": "A mixed glioma of the brain stem that occurs during adulthood." + }, + { + "input": "adult brainstem astrocytoma", + "output": "An astrocytoma of the brain stem that occurs during adulthood." + }, + { + "input": "distal biliary tract carcinoma", + "output": "A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct." + }, + { + "input": "extrahepatic bile duct small cell adenocarcinoma", + "output": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. it is characterized by the presence of malignant small cells." + }, + { + "input": "agoraphobia", + "output": "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." + }, + { + "input": "ovarian mixed germ cell neoplasm", + "output": "An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components." + }, + { + "input": "panic disorder", + "output": "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress." + }, + { + "input": "malignant peripheral nerve sheath tumor", + "output": "A malignant neurilemmoma with nerve sheath differentiation. it is often associated with neurofibromatosis 1 and rhabdomyosarcoma." + }, + { + "input": "bladder urachal squamous cell carcinoma", + "output": "A rare variant of bladder urachal carcinoma with squamous cell features." + }, + { + "input": "kidney pelvis papillary carcinoma", + "output": "A papillary carcinoma that is located_in the kidney pelvis." + }, + { + "input": "renal pelvis papillary tumor", + "output": "A papillary tumor originating in the renal pelvis." + }, + { + "input": "occlusion precerebral artery", + "output": "Occlusion and stenosis of unspecified precerebral artery" + }, + { + "input": "renal pelvis benign neoplasm", + "output": "A neoplasm involving the renal pelvis." + }, + { + "input": "kidney fibrosarcoma", + "output": "A usually aggressive malignant neoplasm arising from the kidney. it is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." + }, + { + "input": "kidney osteogenic sarcoma", + "output": "A kidney sarcoma that starts in the bones and that is located in the kidney." + }, + { + "input": "specific phobia", + "output": "A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations." + }, + { + "input": "internal auditory canal meningioma", + "output": "A meningioma that affects the internal auditory canal." + }, + { + "input": "non-proliferative fibrocystic change of the breast", + "output": "A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia." + }, + { + "input": "microglandular adenosis", + "output": "A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane." + }, + { + "input": "apocrine adenosis of breast", + "output": "A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change." + }, + { + "input": "animal phobia", + "output": "A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all." + }, + { + "input": "congestive heart failure", + "output": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." + }, + { + "input": "appendix disease", + "output": "A gastrointestinal system disease that is located_in the appendix." + }, + { + "input": "pulmonary artery disease", + "output": "An artery disease that is located in the lungs." + }, + { + "input": "bartholin's gland disease", + "output": "A female reproductive system disease that is located in bartholin's gland." + }, + { + "input": "bartholin's gland cancer", + "output": "A vulva cancer that is located in bartholin's gland." + }, + { + "input": "cerebrovascular benign neoplasm", + "output": "A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system." + }, + { + "input": "parathyroid gland benign neoplasm", + "output": "An endocrine organ benign neoplasm that is located_in some parathyroid gland." + }, + { + "input": "pituitary gland benign neoplasm", + "output": "A benign neoplasm located in the pituitary gland." + }, + { + "input": "breast fibrosarcoma", + "output": "A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern." + }, + { + "input": "aleukemic leukemia cutis", + "output": "An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood." + }, + { + "input": "aleukemic leukemia", + "output": "A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood." + }, + { + "input": "adult central nervous system teratoma", + "output": "A mature or immature teratoma affecting the central nervous system and occurring in adults." + }, + { + "input": "central nervous system mature teratoma", + "output": "A mature teratoma that is located_in the central nervous system." + }, + { + "input": "central nervous system immature teratoma", + "output": "A malignant teratoma that is located_in the central nervous system." + }, + { + "input": "cancerophobia", + "output": "An overwhelming, irrational, and persistent fear of being diagnosed with cancer." + }, + { + "input": "selective ige deficiency disease", + "output": "A dysgammaglobulinemia that is characterized by isolated deficiency of ige and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases." + }, + { + "input": "selective immunoglobulin deficiency disease", + "output": "A b cell deficiency that is characterized by deficiency of an immunoglobulin subtype. the clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity." + }, + { + "input": "aids phobia", + "output": "An overwhelming, irrational, and persistent fear of contracting acquired immune deficiency syndrome." + }, + { + "input": "juvenile type testicular granulosa cell tumor", + "output": "A granulosa cell tumor occurring in the ovary and testis. in females it occurs predominantly in the first three decades of life and presents unilaterally as stage i disease in the vast majority of cases. it is characterized by the presence of granulosa cells forming macrofollicular structures. the majority of cases have a good prognosis. in males it represents the most frequent congenital testicular neoplasm and the vast majority of cases occur in the perinatal period. it presents as a scrotal or abdominal mass and it more often affects the left testis. approximately 20% of the patients have ambiguous external genitalia. it is characterized by the presence of cystic spaces lined by granulosa cells and cells resembling theca cells. metastases have not been reported." + }, + { + "input": "heart fibrosarcoma", + "output": "A usually aggressive malignant neoplasm arising from the heart. it is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." + }, + { + "input": "heart malignant hemangiopericytoma", + "output": "A heart sarcoma that is a soft tissue sarcoma located in the heart." + }, + { + "input": "spindle cell intraocular melanoma", + "output": "An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells." + }, + { + "input": "uveal melanoma", + "output": "A uveal cancer that has_material_basis_in uvea pigment cells." + }, + { + "input": "choroid spindle cell melanoma", + "output": "A malignant choroid melanoma that is located_in the choroid." + }, + { + "input": "ciliary body spindle cell melanoma", + "output": "A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles." + }, + { + "input": "telangiectatic glomangioma", + "output": "A glomus tumor characterized by huge vascular channel formations." + }, + { + "input": "flying phobia", + "output": "A specific phobia that is characterized by a fear of flying." + }, + { + "input": "esophageal disease", + "output": "A gastrointestinal system disease that is located_in the esophagus." + }, + { + "input": "central nervous system childhood germ cell tumor", + "output": "A germ cell tumor of the central nervous system occurring in children." + }, + { + "input": "childhood germ cell cancer", + "output": "A germ cell cancer that presents in childhood." + }, + { + "input": "frontal sinus schneiderian papilloma", + "output": "A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. it is classified as inverted papilloma and oncocytic papilloma." + }, + { + "input": "nasal vestibule papilloma", + "output": "A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule." + }, + { + "input": "brown-sequard syndrome", + "output": "Brown-s\u00e9quard syndrome" + }, + { + "input": "urinary tract non-invasive transitional cell neoplasm", + "output": "A non-invasive neoplasm affecting the urothelium." + }, + { + "input": "ovarian mucinous neoplasm", + "output": "An ovary epithelial cancer that is characterized by the presence of mucin." + }, + { + "input": "paraplegia", + "output": "Paraplegia" + }, + { + "input": "childhood testicular germ cell tumor", + "output": "A germ cell tumor that arises from the testis during childhood." + }, + { + "input": "childhood ovarian endodermal sinus tumor", + "output": "An ovarian endodermal sinus tumor that presents in childhood." + }, + { + "input": "childhood ovarian germ cell tumor", + "output": "An ovarian germ cell cancer that presents in childhood." + }, + { + "input": "meningeal melanoma", + "output": "A melanoma that arises from leptomeningeal melanocytes." + }, + { + "input": "malignant leptomeningeal neoplasm", + "output": "A primary or metastatic malignant tumor involving the leptomeninges." + }, + { + "input": "acute stress disorder", + "output": "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of ptsd occurring within one month of a traumatic experience as acute stress disorder or asd." + }, + { + "input": "childhood leptomeningeal melanoma", + "output": "A melanoma that arises from leptomeningeal melanocytes and occurs in childhood." + }, + { + "input": "adult leptomeningeal melanoma", + "output": "A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood." + }, + { + "input": "mitral valve disease", + "output": "Rheumatic mitral valve diseases" + }, + { + "input": "signet ring cell variant cervical mucinous adenocarcinoma", + "output": "A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells." + }, + { + "input": "herpetic gastritis", + "output": "A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus." + }, + { + "input": "thoracic spinal canal and spinal cord meningioma", + "output": "A meningioma that arises from the meninges of the thoracic region of the spinal cord." + }, + { + "input": "jugular foramen meningioma", + "output": "A meningioma that affects the jugular foramen." + }, + { + "input": "cerebral meningioma", + "output": "A meningioma that affects the cerebral hemispheres." + }, + { + "input": "intracerebral cystic meningioma", + "output": "A cystic meningioma that grows within the cerebral hemispheres." + }, + { + "input": "cerebral convexity meningioma", + "output": "A meningioma that affects the cerebral sulcus." + }, + { + "input": "lateral ventricle meningioma", + "output": "A meningioma that affects the lateral ventricle of the brain." + }, + { + "input": "renal pelvis inverted papilloma", + "output": "A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue." + }, + { + "input": "renal pelvis urothelial papilloma", + "output": "A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma." + }, + { + "input": "primary immunodeficiency disease", + "output": "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation." + }, + { + "input": "anal canal carcinoma", + "output": "An anal canal cancer that derives_from epithelial cells." + }, + { + "input": "gliomatosis cerebri", + "output": "A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells." + }, + { + "input": "bronchitis", + "output": "A bronchial disease that is an inflammation of the bronchial tubes. it is caused by bacteria and viruses. the disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness." + }, + { + "input": "uterine corpus epithelioid leiomyosarcoma", + "output": "A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm." + }, + { + "input": "lymphopenia", + "output": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood." + }, + { + "input": "nasal cavity carcinoma in situ", + "output": "An in situ carcinoma that is located_in the nasal cavity." + }, + { + "input": "leukopenia", + "output": "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection." + }, + { + "input": "childhood choriocarcinoma of the testis", + "output": "A choriocarcinoma of the testis that is present during childhood." + }, + { + "input": "childhood testicular mixed germ cell tumor", + "output": "A malignant mixed germ cell neoplasm that arises from the testis during childhood." + }, + { + "input": "childhood embryonal testis carcinoma", + "output": "An embryonal testis carcinoma that occurs in children." + }, + { + "input": "familial renal papillary carcinoma", + "output": "A familial carcinoma inherited in an autosomal dominant trait. it is characterized by the development of multiple, bilateral papillary renal cell carcinomas. the carcinomas range from microscopic lesions to clinically symptomatic tumors. it is associated with activating mutations of the met oncogene." + }, + { + "input": "prostatic urethra urothelial carcinoma", + "output": "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra." + }, + { + "input": "prostatic urethral cancer", + "output": "A primary or metastatic malignant neoplasm that affects the prostatic urethra." + }, + { + "input": "ovarian carcinosarcoma", + "output": "A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components." + }, + { + "input": "uterine carcinosarcoma", + "output": "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma." + }, + { + "input": "mediastinal neurilemmoma", + "output": "A neurilemmoma located_in the mediastinum." + }, + { + "input": "ovarian small cell carcinoma", + "output": "An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells." + }, + { + "input": "rectum kaposi's sarcoma", + "output": "A sarcoma of the rectum that results_in lesions that are located_in the rectum." + }, + { + "input": "malignant inflammatory fibrous histiocytoma", + "output": "An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells." + }, + { + "input": "epithelioid sarcoma", + "output": "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue." + }, + { + "input": "conjunctivitis", + "output": "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids." + }, + { + "input": "reactive arthritis", + "output": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body." + }, + { + "input": "conventional malignant hemangiopericytoma", + "output": "A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity." + }, + { + "input": "cornea cancer", + "output": "Malignant neoplasm of cornea" + }, + { + "input": "aortic valve disease", + "output": "A heart valve disease that is located_in the aortic valve." + }, + { + "input": "blood protein disease", + "output": "Hematologic diseases caused by structural or functional defects of blood proteins." + }, + { + "input": "pericardial mesothelioma", + "output": "Mesothelioma of pericardium" + }, + { + "input": "thyroid hyalinizing trabecular adenoma", + "output": "A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. it is characterized by a trabecular growth pattern and hyalinized stroma formation. the vast majority of cases have a benign clinical course." + }, + { + "input": "mediastinal osteogenic sarcoma", + "output": "An osteosarcoma arising from the mediastinum." + }, + { + "input": "malignant mediastinum hemangiopericytoma", + "output": "A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum." + }, + { + "input": "bladder diffuse clear cell adenocarcinoma", + "output": "A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern." + }, + { + "input": "mixed epithelial tumor of ovary", + "output": "An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements." + }, + { + "input": "ovarian endometrial cancer", + "output": "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary." + }, + { + "input": "ovarian papillary neoplasm", + "output": "An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology." + }, + { + "input": "gastric diffuse adenocarcinoma", + "output": "A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma." + }, + { + "input": "cronkhite-canada syndrome", + "output": "A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea." + }, + { + "input": "articular cartilage disease", + "output": "A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones." + }, + { + "input": "peritoneal serous papillary adenocarcinoma", + "output": "A rare, serous papillary adenocarcinoma that arises from the lining of the peritoneum. it affects females. the clinical behavior and pathologic characteristics are similar to the serous papillary adenocarcinoma that arises from the ovary." + }, + { + "input": "childhood mature teratoma of the ovary", + "output": "A mature teratoma of the ovary that presents in childhood." + }, + { + "input": "childhood teratoma of the ovary", + "output": "An ovarian germ cell teratoma that presents in childhood." + }, + { + "input": "mature teratoma of the ovary", + "output": "An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)." + }, + { + "input": "ovarian biphasic or triphasic teratoma", + "output": "An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm." + }, + { + "input": "non-invasive bladder papillary urothelial neoplasm", + "output": "A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. the papillary structures exhibit minimal architectural distortion and minimal atypia. mitoses are infrequent. patients are at an increased risk of developing new papillary lesions. occasionally, the new lesions are urothelial carcinomas." + }, + { + "input": "transient hypogammaglobulinemia of infancy", + "output": "Transient hypogammaglobulinemia of infancy" + }, + { + "input": "familial renal oncocytoma", + "output": "An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. this condition may be connected to birt-hogg-dube syndrome." + }, + { + "input": "renal oncocytoma", + "output": "A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. the majority of these tumors are discovered incidentally, during work-up of other conditions." + }, + { + "input": "mediastinum seminoma", + "output": "An extragonadal malignant germ cell tumor that arises from the mediastinum. it is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. it usually arises from the anterior mediastinum. it may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. the prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors." + }, + { + "input": "transient hypogammaglobulinemia", + "output": "A broad classification for humoral immunodeficiencies. these disorders may be caused by inadequate activation of progenitor b cells, defective class-switching or the effects of medications. despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels." + }, + { + "input": "growth hormone secreting pituitary adenoma", + "output": "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. the vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." + }, + { + "input": "malignant growth hormone secreting neoplasm of pituitary", + "output": "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. it may be associated with acromegaly." + }, + { + "input": "chromophil adenoma of the kidney", + "output": "A low grade, unencapsulated neoplasm with papillary, tubular, or tubulopapillary architecture, less than 15 mm in size." + }, + { + "input": "type 1 papillary adenoma of the kidney", + "output": "A renal papillary adenoma which is characterized by basophilic cells with scant amount of cytoplasm." + }, + { + "input": "type 2 papillary adenoma of the kidney", + "output": "A renal papillary adenoma which is characterized by eosinophilic cells." + }, + { + "input": "complement deficiency", + "output": "A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation." + }, + { + "input": "follicular dendritic cell sarcoma", + "output": "A dendritic cell sarcoma cancer that effects the follicular dendritic cells." + }, + { + "input": "inflammatory breast carcinoma", + "output": "A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli." + }, + { + "input": "severe combined immunodeficiency", + "output": "A combined t cell and b cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems." + }, + { + "input": "gastric cardia carcinoma", + "output": "A carcinoma that arises from the gastric cardia." + }, + { + "input": "gastric cardia adenocarcinoma", + "output": "An adenocarcinoma that arises from the gastric cardia. the majority of cases have been reclassified as gastroesophageal junction adenocarcinomas." + }, + { + "input": "malignant thyroid stimulating hormone producing neoplasm of pituitary gland", + "output": "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin." + }, + { + "input": "tsh producing pituitary tumor", + "output": "A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. it is usually associated with goiter and hyperthyroidism." + }, + { + "input": "malignant acth producing neoplasm of pituitary gland", + "output": "A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. it may be associated with cushing disease." + }, + { + "input": "ovarian mucinous malignant adenofibroma", + "output": "An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." + }, + { + "input": "combined t cell and b cell immunodeficiency", + "output": "A primary immunodeficiency disease characterized by impaired t cell-mediated immunity and impaired b cell mediated humoral immunity." + }, + { + "input": "epicardium lipoma", + "output": "A heart lipoma that is located_in the epicardium and derives_from fat cells." + }, + { + "input": "heart lipoma", + "output": "A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue." + }, + { + "input": "childhood cerebellar astrocytic neoplasm", + "output": "Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. more than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. the remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood." + }, + { + "input": "cerebral hemisphere lipoma", + "output": "A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum." + }, + { + "input": "central nervous system lipoma", + "output": "A central nervous system benign neoplasm that derives_from fat cells." + }, + { + "input": "corpus callosum lipoma", + "output": "A rare benign adipose tissue neoplasm of the corpus callosum." + }, + { + "input": "viral esophagitis", + "output": "Viral infection of the esophagus. it often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. symptoms include pain on swallowing, fever, and retrosternal burning." + }, + { + "input": "genetic disease", + "output": "A disease that has_material_basis_in genetic variations in the human genome." + }, + { + "input": "ectopic thymus", + "output": "A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution." + }, + { + "input": "fibromyalgia", + "output": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression." + }, + { + "input": "clivus chordoma", + "output": "A chordoma of skull base that is located in the clivus." + }, + { + "input": "clivus chondroid chordoma", + "output": "A chondroid chordoma and chordoma of the clivus that is located_in the clivus." + }, + { + "input": "ovarian fetiform teratoma", + "output": "A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed." + }, + { + "input": "ovarian solid teratoma", + "output": "A mature teratoma of the ovary that is predominantly solid with interspersed cysts." + }, + { + "input": "bartholin's gland adenocarcinoma", + "output": "A bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue." + }, + { + "input": "tibial adamantinoma", + "output": "An adamantinoma of long bone that is located_in the tibia." + }, + { + "input": "myositis", + "output": "A myopathy characterized by muscle inflammation." + }, + { + "input": "immature teratoma of ovary", + "output": "A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies." + }, + { + "input": "adult malignant hemangiopericytoma", + "output": "A malignant hemangiopericytoma occurring in the adult population." + }, + { + "input": "adult intracranial malignant hemangiopericytoma", + "output": "A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population." + }, + { + "input": "anterior optic tract meningioma", + "output": "A meningioma that affects the anterior visual pathway." + }, + { + "input": "bilateral meningioma of optic nerve", + "output": "Meningiomas that affects both optic nerves." + }, + { + "input": "cerebellopontine angle meningioma", + "output": "A meningioma that affects the cerebellopontine angle." + }, + { + "input": "vulvar eccrine adenocarcinoma", + "output": "A vulva adenocarcinoma that has_material_basis_in eccrine glands." + }, + { + "input": "malignant melanocytic neoplasm of the peripheral nerve sheath", + "output": "A rare variant of malignant peripheral nerve sheath tumor. it is characterized by the presence of malignant cells that contain melanin." + }, + { + "input": "acquired immunodeficiency syndrome", + "output": "A human immunodeficiency virus infectious disease that results_in reduction in the numbers of cd4-bearing helper t cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in human immunodeficiency virus 1 or has_material_basis_in human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. opportunistic infections are common in people with aids." + }, + { + "input": "chronic lymphocytic leukemia/small lymphocytic lymphoma", + "output": "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." + }, + { + "input": "central pontine myelinolysis", + "output": "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria." + }, + { + "input": "migraine", + "output": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing." + }, + { + "input": "acral lentiginous melanoma", + "output": "A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes." + }, + { + "input": "hepatic osteogenic sarcoma", + "output": "An osteosarcoma arising from the liver." + }, + { + "input": "hypersplenism", + "output": "Hypersplenism" + }, + { + "input": "diffuse meningeal melanocytosis", + "output": "A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges." + }, + { + "input": "anterior foramen magnum meningioma", + "output": "A meningioma that affects the anterior foramen magnum." + }, + { + "input": "childhood brain stem glioma", + "output": "A glioma that arises from the brain stem and occurs during childhood." + }, + { + "input": "childhood brainstem astrocytoma", + "output": "An astrocytoma that arises from the brain stem and occurs during childhood." + }, + { + "input": "acute disseminated encephalomyelitis", + "output": "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. it usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection." + }, + { + "input": "encephalomyelitis", + "output": "A general term indicating inflammation of the brain and spinal cord, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. there is significant overlap regarding the usage of this term and encephalitis in the literature." + }, + { + "input": "metanephric adenoma", + "output": "A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. polycythemia has been reported in twelve-percent of patients." + }, + { + "input": "ovarian papillary cystadenoma", + "output": "An ovarian cystadenoma that is characterized by the presence of finger-like projections." + }, + { + "input": "double outlet right ventricle", + "output": "Double outlet right ventricle" + }, + { + "input": "ovarian surface papilloma", + "output": "An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary." + }, + { + "input": "ovary papillary carcinoma", + "output": "An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells." + }, + { + "input": "tetralogy of fallot", + "output": "Tetralogy of fallot" + }, + { + "input": "pulmonary valve stenosis", + "output": "The pathologic narrowing of the orifice of the pulmonary valve. this lesion restricts blood outflow from the right ventricle to the pulmonary artery. when the trileaflet valve is fused into an imperforate membrane, the blockage is complete." + }, + { + "input": "childhood central nervous system mature teratoma", + "output": "A mature teratoma that arises from the central nervous system during childhood." + }, + { + "input": "eyelid carcinoma", + "output": "A carcinoma that arises from the eyelid. examples include basal cell carcinoma and squamous cell carcinoma." + }, + { + "input": "cervical adenoid basal carcinoma", + "output": "A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small,\\nwell differentiated, rounded nests of basaloid cells." + }, + { + "input": "progressive multifocal leukoencephalopathy", + "output": "A viral infectious disease that involves reactivation of jc polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. the symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma." + }, + { + "input": "pulmonary hypertension", + "output": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." + }, + { + "input": "malignant choroid melanoma", + "output": "A uveal melanoma that arises from the choroid. it is the most common primary malignant intraocular tumor. it usually affects caucasians of northern european descent. it usually remains asymptomatic for a long period. when signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. tumor size is the most important factor that relates to prognosis." + }, + { + "input": "ovarian endometrioid malignant adenofibroma", + "output": "A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma." + }, + { + "input": "ceruminous adenocarcinoma", + "output": "An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal." + }, + { + "input": "vulvar apocrine adenocarcinoma", + "output": "A vulva adenocarcinoma that has_material_basis_in apocrine glands." + }, + { + "input": "central nervous system fibrosarcoma", + "output": "A usually aggressive malignant neoplasm arising from the central nervous system. it is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." + }, + { + "input": "cowden syndrome", + "output": "A pten hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium." + }, + { + "input": "cerebellar liponeurocytoma", + "output": "A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation." + }, + { + "input": "rectal lipoma", + "output": "A rectal benign neoplasm that has_material_basis_in fat tissue." + }, + { + "input": "viral encephalitis", + "output": "An encephalitis that involves inflammation of the brain caused by viral infection." + }, + { + "input": "large intestine lipoma", + "output": "An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine." + }, + { + "input": "mucinous cystadenofibroma", + "output": "A cystadenofibroma that is characterized by the presence of mucin." + }, + { + "input": "ovarian mucinous adenofibroma", + "output": "An ovarian benign neoplasm that is characterized by low beta-hcg levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." + }, + { + "input": "childhood teratocarcinoma of the testis", + "output": "A malignant testicular mixed germ cell neoplasm that occurs during childhood. it is characterized by the presence of embryonal carcinoma and teratoma components." + }, + { + "input": "clear cell variant infiltrating bladder urothelial carcinoma", + "output": "An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells." + }, + { + "input": "invasive bladder transitional cell carcinoma", + "output": "An invasive transitional cell carcinoma that arises from the urinary bladder urothelium." + }, + { + "input": "kuru", + "output": "Kuru" + }, + { + "input": "bladder signet ring cell adenocarcinoma", + "output": "A variant of bladder adenocarcinoma with mucin containing signet ring cells." + }, + { + "input": "lung acinar adenocarcinoma", + "output": "A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (nci05)" + }, + { + "input": "rete testis adenoma", + "output": "A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis." + }, + { + "input": "mediastinal melanocytic neurilemmoma", + "output": "A melanotic schwannoma that affects the mediastinum." + }, + { + "input": "periosteal osteogenic sarcoma", + "output": "An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. it arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. a painless mass or swelling is the most common clinical sign. it is associated with a better prognosis than conventional osteosarcoma." + }, + { + "input": "prion disease", + "output": "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins." + }, + { + "input": "breast capillary hemangioma", + "output": "A breast hemangioma that is characterized by capillary-sized vessels." + }, + { + "input": "breast epithelioid hemangioma", + "output": "A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells." + }, + { + "input": "childhood myxoid chondrosarcoma", + "output": "A myxoid chondrosarcoma occurring in children." + }, + { + "input": "seborrheic keratosis", + "output": "Seborrheic keratosis" + }, + { + "input": "connective tissue disease", + "output": "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage." + }, + { + "input": "cerebellar angioblastoma", + "output": "A benign, slow-growing tumor in the cerebellum (part of the brain at the back of the head), made up of abnormal blood vessel growth. people with von hippel-landau disease have an increased risk of developing hemangioblastomas." + }, + { + "input": "brain stem angioblastoma", + "output": "A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells." + }, + { + "input": "vaginal spindle cell epithelioma", + "output": "A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina." + }, + { + "input": "lung occult squamous cell carcinoma", + "output": "A squamous cell lung carcinoma detectable by sputum cytology only. the primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed." + }, + { + "input": "glandular pattern ovarian yolk sac tumor", + "output": "An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology." + }, + { + "input": "hepatoid pattern ovarian yolk sac tumor", + "output": "An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile." + }, + { + "input": "polyvesicular vitelline pattern ovarian yolk sac tumor", + "output": "An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma." + }, + { + "input": "clivus meningioma", + "output": "A meningioma that affects the clivus." + }, + { + "input": "bartholin's gland adenomyoma", + "output": "A bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components." + }, + { + "input": "mixed cell uveal melanoma", + "output": "A melanoma arising from the choroid, ciliary body, or the iris. it is characterized by the presence of a mixture of spindle a melanoma cells, spindle b melanoma cells, and epithelioid melanoma cells." + }, + { + "input": "malignant ciliary body melanoma", + "output": "A rare uveal melanoma that arises from the ciliary body. patients may present with blurred vision, visual field loss, floaters, and ocular pain. the prognosis is usually poor." + }, + { + "input": "purine-pyrimidine metabolic disorder", + "output": "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism." + }, + { + "input": "thymoma type b2", + "output": "A thymoma type b that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli." + }, + { + "input": "plasma cell neoplasm", + "output": "A mature b-cell neoplasm that is composed of plasma cells." + }, + { + "input": "overnutrition", + "output": "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content." + }, + { + "input": "acne", + "output": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring." + }, + { + "input": "heart lymphoma", + "output": "An extranodal lymphoma that arises from the heart and/or the pericardium. the majority of the cases are diffuse large b-cell lymphomas. patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope." + }, + { + "input": "angiomatous meningioma", + "output": "A who grade i meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells." + }, + { + "input": "inherited metabolic disorder", + "output": "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality." + }, + { + "input": "gastric small cell carcinoma", + "output": "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. it is characterized by the presence of malignant small cells." + }, + { + "input": "posterior foramen magnum meningioma", + "output": "A meningioma that affects the posterior foramen magnum." + }, + { + "input": "ovarian clear cell malignant adenofibroma", + "output": "An ovarian cancer that is characterized by low beta-hcg levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands." + }, + { + "input": "ethmoid sinus schneiderian papilloma", + "output": "A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. it is classified as inverted papilloma and oncocytic papilloma." + }, + { + "input": "adrenal adenoma", + "output": "An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland." + }, + { + "input": "ethmoid sinus inverted papilloma", + "output": "A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. it results from the invagination and proliferation of epithelial cells in the underlying stroma." + }, + { + "input": "neurilemmoma of the pleura", + "output": "A benign schwannoma occurring in the pleura." + }, + { + "input": "uterine corpus myxoid leiomyosarcoma", + "output": "A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels." + }, + { + "input": "micropapillomatosis labialis", + "output": "A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva." + }, + { + "input": "adenoma", + "output": "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures." + }, + { + "input": "childhood optic tract astrocytoma", + "output": "An astrocytoma that arises from the visual pathway and occurs during childhood." + }, + { + "input": "childhood optic nerve glioma", + "output": "A glioma affecting the optic tract and occurring in childhood." + }, + { + "input": "chest wall bone cancer", + "output": "A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall." + }, + { + "input": "breast apocrine carcinoma", + "output": "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders." + }, + { + "input": "breast oncocytic carcinoma", + "output": "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria." + }, + { + "input": "breast tubular carcinoma", + "output": "A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma." + }, + { + "input": "spondylitis", + "output": "Other inflammatory spondylopathies" + }, + { + "input": "bladder colonic type adenocarcinoma", + "output": "A rare adenocarcinoma that arises in the bladder. it is characterized by intestinal type glands and resembles colonic adenocarcinoma." + }, + { + "input": "gastric tubular adenocarcinoma", + "output": "A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules." + }, + { + "input": "muscle tissue disease", + "output": "A muscular disease located in the muscle tissue." + }, + { + "input": "adrenal cortex cancer", + "output": "Malignant neoplasm of cortex of adrenal gland" + }, + { + "input": "kummell's disease", + "output": "Traumatic spondylopathy" + }, + { + "input": "classic variant of chromophobe renal cell carcinoma", + "output": "A variant of chromophobe renal cell carcinoma. it is characterized by the presence of large pale cells with thickened cell membranes." + }, + { + "input": "eosinophilic variant of chromophobe renal cell carcinoma", + "output": "A variant of chromophobe renal cell carcinoma in which more than 80% of the malignant cells have granular, eosinophilic cytoplasm." + }, + { + "input": "endobronchial leiomyoma", + "output": "A benign smooth muscle neoplasm arising endobronchially. it is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." + }, + { + "input": "bone epithelioid hemangioma", + "output": "A locally aggressive hemangioma that arises from the bone. it is characterized by the presence of epithelioid endothelial cells." + }, + { + "input": "leukocyte adhesion deficiency", + "output": "A combined t cell and b cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system." + }, + { + "input": "vaginal villous adenoma", + "output": "A vaginal adenoma that is a polyp that resembles colorectal villous adenoma." + }, + { + "input": "x-linked hyper igm syndrome", + "output": "A hyper igm syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the cd40lg gene (300386) on chromosome xq26." + }, + { + "input": "cerebral angioma", + "output": "A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen." + }, + { + "input": "cervical adenoma malignum", + "output": "A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma." + }, + { + "input": "nipple carcinoma", + "output": "A breast carcinoma that is located_in the nipple." + }, + { + "input": "scrotal angioma", + "output": "A hemangioma arising from the skin of the scrotum." + }, + { + "input": "adult central nervous system choriocarcinoma", + "output": "A choriocarcinoma that is located in the central nervous system of an adult." + }, + { + "input": "childhood cns choriocarcinoma", + "output": "A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and csf levels of hcg/_-hcg, has_material_basis_in abnormally proliferating cells, derives_from germ cells." + }, + { + "input": "angiokeratoma of fordyce", + "output": "An angiokeratoma that is located on the scrotum." + }, + { + "input": "breast juvenile papillomatosis", + "output": "A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years." + }, + { + "input": "baastrup's syndrome", + "output": "Kissing spine" + }, + { + "input": "adult pineoblastoma", + "output": "A pineoblastoma occurring in adults." + }, + { + "input": "diffuse idiopathic skeletal hyperostosis", + "output": "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine." + }, + { + "input": "childhood central nervous system immature teratoma", + "output": "An immature teratoma that arises from the central nervous system and occurs during childhood." + }, + { + "input": "breast large cell neuroendocrine carcinoma", + "output": "A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (nse, chromogranin a, synaptophysin)." + }, + { + "input": "pulmonary large cell neuroendocrine carcinoma", + "output": "A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. it is characterized by the presence of high mitotic activity and necrotic changes. the vast majority of cases are positive for neuron-specific enolase. representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas." + }, + { + "input": "cervical large cell neuroendocrine carcinoma", + "output": "A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate." + }, + { + "input": "froelich syndrome", + "output": "A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity." + }, + { + "input": "diffuse infiltrative lymphocytosis syndrome", + "output": "A syndrome that occurs in human immunodeficiency virus (hiv) positive patients, which is accompanied by decreased kidney function. the spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of cd8 t cells." + }, + { + "input": "tooth and nail syndrome", + "output": "A syndrome that affects the teeth, nails, hair, and/or skin. it is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails." + }, + { + "input": "myositis ossificans", + "output": "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles." + }, + { + "input": "capgras syndrome", + "output": "A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor." + }, + { + "input": "spondylolisthesis", + "output": "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae." + }, + { + "input": "x-linked aarskog syndrome", + "output": "A syndromic x-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face." + }, + { + "input": "achard syndrome", + "output": "A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet." + }, + { + "input": "achenbach syndrome", + "output": "A rare disorder which affects the volar surfaces of fingers. clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. the clinical course of the resultant hematoma usually follows a pattern of resolution within days." + }, + { + "input": "autoimmune lymphoproliferative syndrome", + "output": "A hypersensitivity reaction type iv disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). it is characterized by the production of an abnormally large number of lymphocytes. accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen." + }, + { + "input": "aagenaes syndrome", + "output": "A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts." + }, + { + "input": "barre-lieou syndrome", + "output": "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers." + }, + { + "input": "testicular monophasic choriocarcinoma", + "output": "A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells." + }, + { + "input": "synchronous multifocal osteogenic sarcoma", + "output": "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. it has a poor prognosis." + }, + { + "input": "asynchronous multifocal osteogenic sarcoma", + "output": "A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas." + }, + { + "input": "amphetamine abuse", + "output": "A substance abuse that involves the recurring use of amphetamines despite negative consequences." + }, + { + "input": "gastric fundus carcinoma", + "output": "A carcinoma that arises from the fundus of the stomach." + }, + { + "input": "gastric pylorus carcinoma", + "output": "A carcinoma that arises from the pylorus." + }, + { + "input": "gastric body carcinoma", + "output": "A carcinoma that arises from the body of the stomach." + }, + { + "input": "tubular variant testicular seminoma", + "output": "A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes." + }, + { + "input": "malignant triton tumor", + "output": "A malignant peripheral nerve sheath tumor which shows rhabdomyosarcomatous differentiation. more than half of the patients have neurofibromatosis type 1. the prognosis is usually poor." + }, + { + "input": "anterior spinal artery syndrome", + "output": "A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery." + }, + { + "input": "cerebrovascular disease", + "output": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain." + }, + { + "input": "spleen cancer", + "output": "A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen." + }, + { + "input": "littre gland carcinoma", + "output": "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the littre glands." + }, + { + "input": "malignant type ab thymoma", + "output": "A type ab thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize." + }, + { + "input": "spinal stenosis", + "output": "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord." + }, + { + "input": "fibrillary astrocytoma", + "output": "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes." + }, + { + "input": "colon small cell carcinoma", + "output": "An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. it is characterized by the presence of malignant small cells." + }, + { + "input": "intrahepatic bile duct cystadenoma", + "output": "A bile duct cystadenoma located_in an intrahepatic bile duct." + }, + { + "input": "schwannoma of jugular foramen", + "output": "A rare intracranial schwannoma that affects the jugular foramen." + }, + { + "input": "cleft palate", + "output": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate." + }, + { + "input": "cervix small cell carcinoma", + "output": "A small cell carcinoma arising from the cervix." + }, + { + "input": "bilateral breast cancer", + "output": "A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times." + }, + { + "input": "synchronous bilateral breast carcinoma", + "output": "Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast." + }, + { + "input": "internal auditory canal lipoma", + "output": "An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal." + }, + { + "input": "chest wall lymphoma", + "output": "A thoracic cancer that is located_in the chest wall." + }, + { + "input": "bone lymphoma", + "output": "A bone cancer and lymphoma by site that results_in lymphoma starting in the bone." + }, + { + "input": "juvenile rheumatoid arthritis", + "output": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint." + }, + { + "input": "lung lymphoma", + "output": "Lung parenchymal involvement with lymphoma. [ddd:tkuijpers]" + }, + { + "input": "sternum lymphoma", + "output": "A rare lymphoma that arises from the bone or soft tissue of the sternum." + }, + { + "input": "polyembryoma of the ovary", + "output": "An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies." + }, + { + "input": "breast myoepithelial carcinoma", + "output": "A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation." + }, + { + "input": "villoglandular endometrial endometrioid adenocarcinoma", + "output": "An endometrial adenocarcinoma that is characterized by papillary differentiation." + }, + { + "input": "progressive supranuclear palsy", + "output": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. it involves gradual deterioration and death of specific volumes of the brain." + }, + { + "input": "desmoplastic small round cell tumor", + "output": "A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. it usually affects children and young adults. the most common site of involvement is the abdomen. patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass." + }, + { + "input": "childhood botryoid rhabdomyosarcoma", + "output": "A botryoid rhabdomyosarcoma that presents in childhood." + }, + { + "input": "childhood vagina botryoid rhabdomyosarcoma", + "output": "A vagina botryoid rhabdomyosarcoma that presents in childhood." + }, + { + "input": "vagina botryoid rhabdomyosarcoma", + "output": "A botryoid rhabdomyosarcoma that is located_in the vagina." + }, + { + "input": "vulvar childhood botryoid-type embryonal rhabdomyosarcoma", + "output": "A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. the neoplasm arises from the vulva. it is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma." + }, + { + "input": "basal ganglia disease", + "output": "A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits." + }, + { + "input": "tauopathy", + "output": "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (nft) in the human brain." + }, + { + "input": "colon kaposi sarcoma", + "output": "A sarcoma of colon that is located_in the colon." + }, + { + "input": "progressive bulbar palsy", + "output": "Progressive bulbar palsy" + }, + { + "input": "juvenile pilocytic astrocytoma", + "output": "A pilocytic astrocytoma that occurs during adolescence." + }, + { + "input": "childhood pilocytic astrocytoma", + "output": "A pilocytic astrocytoma that occurs during childhood." + }, + { + "input": "compartment syndrome", + "output": "Compartment syndrome, unspecified" + }, + { + "input": "pancreatoblastoma", + "output": "A rare malignant epithelial neoplasm arising from the pancreas. the vast majority of cases occur during childhood. it is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. patients may present with an abdominal mass. symptoms include pain, weight loss, and diarrhea. it may metastasize to lymph nodes, liver, and distant anatomic sites. children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. however, children with metastatic disease at presentation or adult patients usually have a poor prognosis." + }, + { + "input": "pancreatic solid pseudopapillary carcinoma", + "output": "A pancreatic carcinoma that is characterized by its papillary architecture." + }, + { + "input": "motor neuritis", + "output": "Inflammation or degeneration of the peripheral motor nerves." + }, + { + "input": "rete ovarii adenoma", + "output": "A rete ovarii benign neoplasm that derives_from glandular epithelial cells." + }, + { + "input": "rete ovarii cystadenofibroma", + "output": "A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells." + }, + { + "input": "breast intraductal proliferative lesion", + "output": "An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. it is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation." + }, + { + "input": "hepatocellular carcinoma", + "output": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." + }, + { + "input": "flat ductal epithelial atypia", + "output": "A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia." + }, + { + "input": "kidney pelvis sarcomatoid transitional cell carcinoma", + "output": "An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features." + } + ], + "Categories": [ + "Explanation" + ], + "Definition": [ + "Assuming you are a doctor, please explan the following given medical professional entity for me." + ] +} \ No newline at end of file