| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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nail-patella syndrome
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Turner-Kiser syndrome; Fong disease; hereditary on..
[+]
Turner-Kiser syndrome; Fong disease; hereditary onychoostedysplasia; nail patella syndrome; iliac horn syndrome
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A syndrome characterized by nail dysplasia and abs.. [+]A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3.
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renal tuberculosis
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Tuberculosis of kidney
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An urogenital tuberculosis that results_in formati.. [+]An urogenital tuberculosis that results_in formation of granulomas located_in kidney.
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perianal hematoma
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Thrombosed external hemorrhoids; External thrombos..
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Thrombosed external hemorrhoids; External thrombosed haemorrhoids
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n_a
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miliary tuberculosis
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Tuberculosis miliaris disseminata; Tuberculosis mi..
[+]
Tuberculosis miliaris disseminata; Tuberculosis miliaris disseminata (disorder); Disseminated tuberculosis (disorder); generalized tuberculosis; acute miliary tuberculosis; Disseminated tuberculosis
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An extrapulmonary tuberculosis that results in for.. [+]An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs.
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ampulla of Vater benign neoplasm
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tumor of the ampulla of Vater
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A duodenal benign neoplasm that is located_in the .. [+]A duodenal benign neoplasm that is located_in the ampulla of Vater.
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cysticercosis
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Tapeworm infection pork; Tapeworm infection intest..
[+]
Tapeworm infection pork; Tapeworm infection intestinal taenia solum; Tapeworm infection: intestinal taenia solum; Tapeworm infection: pork; tenia solium infectious disease; Tapeworm infection: [intestinal taenia solium] or [pork]; intestinal taenia solium infection; Pork tapeworm infection; neurocysticercosis
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A taeniasis that results from ingestion of eggs or.. [+]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.
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dry eye syndrome
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Tear film insufficiency; dry eye disease
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A lacrimal apparatus disease that is characterized.. [+]A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.
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prostate cancer
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tumor of the prostate; malignant tumor of the pros..
[+]
tumor of the prostate; malignant tumor of the prostate; NGP - new growth of prostate; prostatic cancer; prostatic neoplasm; prostate cancer, familial; hereditary prostate cancer; prostate neoplasm
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A male reproductive organ cancer that is located_i.. [+]A male reproductive organ cancer that is located_in the prostate.
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7 articles
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pulmonary talcosis
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talc pneumoconiosis; talcosis; Talc Pneumoconiosis..
[+]
talcosis; talc pneumoconiosis; Talc Pneumoconiosis; pneumoconiosis due to talc
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A pneumoconiosis that is characterized by fibrosis.. [+]A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc.
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yaws
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thymosis; Bouba; frambesia; frambosie; polypapillo..
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thymosis; Bouba; frambesia; frambosie; polypapilloma tropicum; frambesia tropica
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A primary bacterial infectious disease that result.. [+]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.
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Hirschsprung's disease
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total intestinal aganglionosis; aganglionic megaco..
[+]
total intestinal aganglionosis; aganglionic megacolon; macrocolon; pelvirectal achalasia; Hirschsprung disease; congenital megacolon
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A megacolon that is characterized by a blockage of.. [+]A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
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2 articles
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beach ear
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Tank ear; acute bacterial inflammation of external..
[+]
Tank ear; acute bacterial inflammation of external ear (disorder); acute otitis externa, diffuse; acute swimmer's ear (disorder); acute swimmer's ear; acute bacterial inflammation of external ear; acute swimmers' ear
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An otitis externa which is a microbial infection t.. [+]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.
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pre-eclampsia
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toxaemia of pregnancy; gestational hypertension; p..
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toxaemia of pregnancy; gestational hypertension; pre-eclamptic toxaemia; preeclampsia/eclampsia; pregnancy toxemia; hypertension induced by pregnancy; pregnancy associated hypertension; preeclampsia; proteinuric hypertension of pregnancy
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A hypertension occurring during pregnancy characte.. [+]A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
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1 articles
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partial third-nerve palsy
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Third or oculomotor nerve palsy, partial; Third ne..
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Third or oculomotor nerve palsy, partial; Third nerve palsy with pupil sparing; Partial third nerve palsy
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n_a
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lepromatous leprosy
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type L leprosy; Lepromatous leprosy (disorder); Le..
[+]
type L leprosy; Lepromatous leprosy (disorder); Lepromatous leprosy [type L]; Lepromatous leprosy
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A leprosy that results in early cutaneous lesions .. [+]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.
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spastic quadriplegic cerebral palsy
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tetraplegic infantile cerebral palsy; quadriplegic..
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tetraplegic infantile cerebral palsy; quadriplegic infantile cerebral palsy; spastic quadriplegic cerebral palsy; inherited congenital spastic quadriplegia; inherited congenital spastic tetraplegia; spastic quadriplegia
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A spastic cerebral palsy that is characterized by .. [+]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.
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salpingo-oophoritis
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Tubo-ovarian inflammatory disease; Salpingitis/oop..
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Tubo-ovarian inflammatory disease; Salpingitis/oophoritis
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n_a
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urinary bladder cancer
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tumor of the bladder; bladder cancer
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An urinary system cancer that results_in malignant.. [+]An urinary system cancer that results_in malignant growth located_in the urinary bladder.
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1 articles
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Gilles de la Tourette syndrome
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Tourette syndrome; Guinon's disease; motor-verbal ..
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Tourette syndrome; Guinon's disease; motor-verbal tic disorder; Psychogenic tics
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A tic disorder that is characterized by multiple p.. [+]A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
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1 articles
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Human papillomavirus infectious disease
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Tumor Virus Infections; Human papilloma Virus Infe..
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Tumor Virus Infections; Human papilloma Virus Infection; Human papilloma virus infection, NOS; human papilloma virus infectious disease; Human papilloma virus infection (disorder); HPV
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A viral infectious disease that has_material_basis.. [+]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.
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orbital tenonitis
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Tenonitis
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An acute orbital inflammation that is characterize.. [+]An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon.
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Plummer's disease
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Toxic nodular goiter; toxic nodular goiter; Toxic ..
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toxic nodular goiter; Toxic nodular goiter; Toxic nodular goiter (disorder); Toxic nodular goiter unspecified (disorder); Toxic nodular goiter NOS (disorder); Toxic nodular Goiter; Plummer disease
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n_a
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fissured tongue
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Tongue, Fissured; Congenital fissure of tongue; Co..
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Tongue, Fissured; Congenital fissure of tongue; Congenital plicated tongue; geographic tongue and fissured tongue; Plicated tongue; scrotal tongue; lingua plicata; Furrowed tongue; Fissure of tongue; Fissure of tongue, congenital
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n_a
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oculomotor nerve paralysis
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Third cranial nerve paralysis; Third cranial nerve..
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Third cranial nerve paralysis; Third cranial nerve paralysis, NOS; III nerve palsy; IIIrd nerve Paralysis
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n_a
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blue color blindness
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Tritanopia; Tritan defect
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A color blindness that is characterized by a selec.. [+]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.
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Patau syndrome
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trisomy 13; D1 Trisomy; Patau's syndrome
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n_a
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head and neck cancer
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tumor of head and neck; tumor of head and neck (di..
[+]
tumor of head and neck; tumor of head and neck (disorder); head and neck neoplasm; head and neck tumours; head/neck neoplasm
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An organ system cancer that arises in the head or .. [+]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.
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1 articles
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Creutzfeldt-Jakob disease
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Transmissible virus dementia; Transmissible virus ..
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Transmissible virus dementia; Transmissible virus dementia (disorder); CJD (Creutzfeldt Jakob disease); Creutzfeldt Jacob syndrome; Creutzfeldt Jakob disease; Jakob-Creutzfeldt disease; Subacute spongiform encephalopathy; CJD; Creutzfeldt-Jacob disease
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n_a
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spermatic cord torsion
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testicular Torsion; Torsion of testis; Torsion of ..
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Torsion of testis; testicular Torsion; Torsion of testicle
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n_a
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frontal lobe neoplasm
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tumor of Frontal Lobe; malignant neoplasm of front..
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tumor of Frontal Lobe; malignant neoplasm of frontal lobe; neoplasm of frontal lobe (disorder); malignant neoplasm of frontal lobe (disorder); neoplasm of frontal lobe
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n_a
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cryptococcosis
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torulosis; torula; Busse-Buschke's disease; crypto..
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torula; torulosis; Busse-Buschke's disease; cryptococcal infection; cryptococcus neoformans infection; European cryptococcosis
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An opportunistic mycosis that results_in fungal in.. [+]An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
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punctate epithelial keratoconjunctivitis
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Thygeson superficial punctate keratitis; Thygeson'..
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Thygeson superficial punctate keratitis; Thygeson's superficial punctate keratitis; Punctate keratitis
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n_a
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femoral vein thrombophlebitis
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Thrombophlebitis of the femoral vein; Thrombophleb..
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Thrombophlebitis of the femoral vein; Thrombophlebitis of deep femoral vein; Thrombophlebitis of the femoral vein (disorder); Thrombophlebitis of deep femoral vein (disorder); Phlebitis and thrombophlebitis of femoral vein (deep) (superficial); Phlebitis and thrombophlebitis of femoral vein
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n_a
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juvenile spinal muscular atrophy
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Type III Spinal Muscular Atrophy; Kugelberg-Weland..
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Type III Spinal Muscular Atrophy; Kugelberg-Welander disease; SMA3; Spinal muscular atrophy, familial; spinal muscular atrophy of childhood; Spinal Muscular Atrophy Type 3
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A childhood spinal muscular atrophy that has age o.. [+]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.
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quadriplegia
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tetraplegia
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n_a
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Behcet's disease
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triple symptom complex; Adamantiades-Behcet diseas..
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triple symptom complex; Adamantiades-Behcet disease; Behcet syndrome; Behcet's syndrome; Behet's syndrome
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A vasculitis that is characterized by an autoimmun.. [+]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.
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intestinal tuberculosis
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tuberculosis of intestine
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A gastrointestinal tuberculosis that involves diff.. [+]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.
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hypertrophy of tongue papillae
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Tongue papillary hypertrophy; Tongue papillary hyp..
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Tongue papillary hypertrophy; Tongue papillary hypertrophy NOS (disorder); hypertrophy of tongue papillae (disorder)
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n_a
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congenital toxoplasmosis
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Toxoplasmosis - congen.; Congenital toxoplasmosis; ..
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Toxoplasmosis - congen.; Congenital toxoplasmosis; Congenital toxoplasmosis (disorder)
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A toxoplasmosis that involves a reactivated infect.. [+]A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.
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scrub typhus
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Tropical typhus; Tsutsugamushi fever; Typhus fever..
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Tsutsugamushi fever; Tropical typhus; Typhus fever due to Rickettsia tsutsugamushi; Tsutsugamushi disease; Tsutsugamushi; Chigger-borne typhus; Mite-borne typhus; Scrub mite-borne typhus; Kedani fever; Mite-borne rickettsiosis; Chigger-borne rickettsiosis; Japanese river fever; Scrub (mite-borne) typhus
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A typhus that has_material_basis_in Orientia tsuts.. [+]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.
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acquired tear duct stenosis
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Tear duct - acquired stenosis; acquired nasolacrim..
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Tear duct - acquired stenosis; acquired nasolacrimal duct stenosis; Stenosis of nasolacrimal duct, acquired; acquired stenosis of nasolacrimal duct
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n_a
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anodontia
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Total anodontia of permanent and deciduous teeth; ..
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Total anodontia of permanent and deciduous teeth; Developmental absence of tooth; Complete absence of teeth
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A tooth disease that is characterized by complete .. [+]A tooth disease that is characterized by complete absence of permanent teeth.
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mature cataract
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Total, mature senile cataract; Total or mature cat..
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Total, mature senile cataract; Total or mature cataract
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A senile cataract that is characterized by full wh.. [+]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.
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familial combined hyperlipidemia
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type IIb hyperlipoproteinemia; familial combined h..
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type IIb hyperlipoproteinemia; familial combined hyperlipidemia (disorder); familial combined hyperlipidemia (disorder) [Ambiguous]; familial multiple lipoprotein-type hyperlipidemia (disorder); hyperbetalipoproteinemia with prebetalipoproteinemia; mixed hyperlipidemia; mixed hyperlipidemia (disorder); familial multiple lipoprotein-type hyperlipidemia; mixed hyperlipidaemia
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n_a
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familial hypercholesterolemia
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type II hyperlipidemia; familial hyperbetalipoprot..
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type II hyperlipidemia; familial hyperbetalipoproteinaemia; Fredrickson type IIa lipidaemia; hyperbetalipoproteinemia; familial hypercholesteremia; Fredrickson type IIa hyperlipoproteinemia
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A familial hyperlipidemia characterized by very hi.. [+]A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
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1 articles
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white piedra
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Tinea blanca; White piedra (disorder); White piedr..
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Tinea blanca; White piedra (disorder); White piedra
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A superficial mycosis that is a superficial fungal.. [+]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.
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necrotizing ulcerative gingivitis
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Trench mouth; trench mouth; (Vincent's angina) or ..
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trench mouth; Trench mouth; (Vincent's angina) or (trench mouth); acute necrotising ulcerative gingivitis; acute necrotising ulcerative gingivostomatitis; acute necrotising ulcerative gingivostomatitis [Ambiguous]; acute necrotizing ulcerative gingivostomatitis (disorder); acute ulceromembranous gingivitis; early acute necrotising gingivitis; Vincent's Angina; Vincent's angina - pharyngitis (disorder); Vincent's disease; Vincent's infection, any site; acute necrotising ulcerative gingivitis [Ambiguous]; acute necrotizing ulcerative gingivitis; ANUG; Vincent angina; Vincent's angina NOS; acute necrotizing ulcerative gingivostomatitis; Angina - Vincents; Vincent's angina; Vincent's angina - pharyngitis
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n_a
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epicondylitis
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tennis elbow; andrel epicondylitis; archer's elbow..
[+]
tennis elbow; andrel epicondylitis; archer's elbow; golfer's elbow; hockey elbow; medial epicondylitis; shooter's elbow; Lateral epicondylitis
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A bone inflammation disease that results_in inflam.. [+]A bone inflammation disease that results_in inflammation located_in epicondyle.
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De Quervain disease
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Tenosynovitis, de Quervain's; Radial styloid tenos..
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Tenosynovitis, de Quervain's; Radial styloid tenosynovitis
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n_a
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dihydropyrimidine dehydrogenase deficiency
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thymine-uracilurea; Dihydropyrimidine dehydrogenas..
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thymine-uracilurea; Dihydropyrimidine dehydrogenase deficiency (disorder); familial pyrimidinaemia; Dihydropyrimidine dehydrogenase deficiency; Dihydrouracil Dehydrogenase deficiency
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A purine-pyrimidine metabolic disorder that is an .. [+]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.
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