| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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iliac vein thrombophlebitis
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Phlebitis and thrombophlebitis of the iliac vein; ..
[+]
Phlebitis and thrombophlebitis of the iliac vein; Phlebitis and thrombophlebitis of the iliac vein NOS (disorder)
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n_a
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antisocial personality disorder
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Psychopathic personality disorder; Psychopath.pers..
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Psychopathic personality disorder; Psychopath.personality; Psychopathic personality; Dissocial personality disorder; sociopathic personality; Asocial personality
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A personality disorder that involves a pervasive p.. [+]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.
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hemiplegia
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Postnatal infantile hemiplegia; Infantile hemipleg..
[+]
Postnatal infantile hemiplegia; Infantile hemiplegia
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A central nervous system disease that is character.. [+]A central nervous system disease that is characterized by the complete paralysis of half of the body.
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2 articles
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dissociative amnesia
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psychogenic amnesia
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A dissociative disorder where he continuity of the.. [+]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.
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asphyxia neonatorum
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postnatal asphyxia; Asphyxia - birth; Asphyxia, in..
[+]
postnatal asphyxia; Asphyxia - birth; Asphyxia, in liveborn infant; Birth asphyxia
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A respiratory system disease that is characterized.. [+]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.
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fundus albipunctatus
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Pigmentary retinal dystrophy; retinitis punctata a..
[+]
Pigmentary retinal dystrophy; retinitis punctata albescens
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A fundus dystrophy that is characterized by discre.. [+]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.
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Gilles de la Tourette syndrome
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Psychogenic tics; Guinon's disease; motor-verbal t..
[+]
Psychogenic tics; Guinon's disease; motor-verbal tic disorder; Tourette syndrome
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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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Henoch-Schoenlein purpura
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Purpura, autoimmune; Allergic purpura; Henoch-Sch?..
[+]
Purpura, autoimmune; Allergic purpura; Henoch-Sch?nlein purpura; Henoch-Scholein purpura; Autoimmune purpura; Henoch-Schonlein Purpura; Henoch-Sch@nlein purpura
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A hypersensitivity vasculitis that is characterize.. [+]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.
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miliaria rubra
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Prickly heat - miliaria; prickly heat; Miliaria cr..
[+]
prickly heat; Prickly heat - miliaria; Miliaria crystallina; Sudamina
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A miliaria that is characterized by erythematous p.. [+]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.
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allescheriosis
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Petriellidosis
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A primary systemic mycosis that results_in systemi.. [+]A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses.
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DiGeorge syndrome
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Pharyngeal pouch syndrome; DiGeorge sequence (diso..
[+]
Pharyngeal pouch syndrome; DiGeorge sequence (disorder); DiGeorge sequence; DiGeorge's syndrome; 22q11.2 deletion syndrome
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A syndrome that has_material_basis_in a large dele.. [+]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.
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8 articles
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buphthalmos
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primary congenital glaucoma 3A; simple buphthalmos..
[+]
primary congenital glaucoma 3A; simple buphthalmos
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A hydrophthalmos characterized by early onset glau.. [+]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.
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acute contagious conjunctivitis
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Pinkeye; Pink eye; Contagious opthalmia
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A bacterial acute conjunctivitis that is character.. [+]A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus.
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typhus
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Prison fever; Petechial fever; Classical typhus (f..
[+]
Petechial fever; Prison fever; Classical typhus (fever); endemic flea-borne typhus; Endemic Typhus fever; Epidemic (louse-borne) typhus; Exanthematic Typhus fever; Exanthematous typhus; Flea-borne rickettsiosis; Louse-borne [epidemic] typhus; Louse-borne typhus; Murine typhus; Rat flea typhus; Shop typhus; Typhus fever; European typhus; Famine fever; Mexican typhus; Ship fever; Urban typhus; Classical typhus; epidemic louse-borne typhus; Flea typhus; Jail fever; Murine [endemic] typhus; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; Flea-borne typhus; Hospital fever; Louse-borne rickettsiosis; Moscow typhus
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A primary bacterial infectious disease that refers.. [+]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.
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ornithosis
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psittacosis
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A primary bacterial infectious disease that result.. [+]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.
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Hantavirus hemorrhagic fever with renal syndrome
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Puumala virus nephropathy; Puumala virus nephropat..
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Puumala virus nephropathy; Puumala virus nephropathy (disorder); Hemorrhagic fever, Russian; Hemorrhagic nephrosonephritis; HFRS
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A viral infectious disease that is a hemorrhagic f.. [+]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.
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Lemierre's syndrome
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postanginal sepsis; Lemierre syndrome; human necro..
[+]
postanginal sepsis; Lemierre syndrome; human necrobacillosis; acute sore throat
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A commensal bacterial infectious disease that is c.. [+]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.
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suppurative otitis media
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Purulent otitis media; Otitis media with effusion ..
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Purulent otitis media; Otitis media with effusion - purulent
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A otitis media which involves inflammation of the .. [+]A otitis media which involves inflammation of the middle ear with infected effusion containing pus.
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rumination disorder
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Psychogenic rumination; Psychogenic rumination (di..
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Psychogenic rumination; Psychogenic rumination (disorder)
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An eating disorder that is characterized by effort.. [+]An eating disorder that is characterized by effortless regurgitation of most meals following consumption.
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fissured tongue
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Plicated tongue; Congenital fissure of tongue; Con..
[+]
Plicated tongue; Congenital fissure of tongue; Congenital plicated tongue; geographic tongue and fissured tongue; scrotal tongue; lingua plicata; Furrowed tongue; Tongue, Fissured; Fissure of tongue; Fissure of tongue, congenital
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n_a
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Chandler syndrome
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Posterior membrane corneal dystrophy; Chandler's s..
[+]
Posterior membrane corneal dystrophy; Chandler's syndrome (disorder); Dystrophy of corneal endothelium; Endothelial corneal dystrophy; Chandler's syndrome
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A corneal dystrophy that is characterized by corne.. [+]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.
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dental pulp necrosis
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pulp necrosis; necrosis of the pulp; necrosis of t..
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pulp necrosis; necrosis of the pulp; necrosis of the pulp NOS (disorder); necrotic pulp
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A dental pulp disease characterized by death of th.. [+]A dental pulp disease characterized by death of the pulp tissue.
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bronchopulmonary dysplasia
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Perinatal bronchopulmonary dysplasia; Bronchopulmo..
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Perinatal bronchopulmonary dysplasia; Bronchopulmonary dysplasia of newborn (disorder); neonatal chronic respiratory disease; Bronchopulmonary dysplasia of newborn; Chronic lung disease of prematurity; Neonatal chronic lung disease; Respiratory insufficiency
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A lung disease that is characterized by underdevel.. [+]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.
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glycogen storage disease VII
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phosphofructokinase myopathy; Glycogen storage dis..
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phosphofructokinase myopathy; Glycogen storage disease, type VII (disorder); Muscle phosphofructokinase deficiency (disorder); glycogen storage disease type VII; Glycogen storage disease, type VII; Muscle phosphofructokinase deficiency; Glycogen storage disease 7
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A glycogen storage disease that is characterized b.. [+]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.
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necrosis of ear ossicle
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partial loss or necrosis of ear ossicles
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n_a
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degenerative myopia
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progressive high (degenerative) myopia; progressiv..
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progressive high (degenerative) myopia; progressive high myopia; pathological myopia; degenerative progressive high myopia
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n_a
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Conn's syndrome
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primary hyperaldosteronism; primary aldosteronism; ..
[+]
primary aldosteronism; primary hyperaldosteronism; Conn syndrome
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An adrenal adenoma characterized by the over produ.. [+]An adrenal adenoma characterized by the over production of aldosterone.
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retinal lattice degeneration
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Palisade degeneration of retina
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n_a
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cobblestone retinal degeneration
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Paving stone retinal degeneration; Paving stone de..
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Paving stone retinal degeneration; Paving stone degeneration of retina
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n_a
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anal margin squamous cell carcinoma
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Perianal skin squamous cell carcinoma; squamous ce..
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Perianal skin squamous cell carcinoma; squamous cell carcinoma of anal margin; squamous cell carcinoma of anal margin (disorder)
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n_a
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femoral vein thrombophlebitis
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Phlebitis and thrombophlebitis of femoral vein; Ph..
[+]
Phlebitis and thrombophlebitis of femoral vein; Phlebitis and thrombophlebitis of femoral vein (deep) (superficial); Thrombophlebitis of deep femoral vein (disorder); Thrombophlebitis of the femoral vein (disorder); Thrombophlebitis of deep femoral vein; Thrombophlebitis of the femoral vein
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n_a
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complex partial epilepsy
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psychomotor epilepsy; Psychomotor epilepsy (disord..
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psychomotor epilepsy; Psychomotor epilepsy (disorder); Psychomotor epilepsy; epilepsy, psychomotor; Complex partial epileptic seizure
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n_a
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neurohypophyseal diabetes insipidus
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Pituitary diabetes insipidus; central diabetes ins..
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Pituitary diabetes insipidus; central diabetes insipidus; Vasopressin deficiency; vasopressin defective diabetes insipidus
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A central diabetes insipidus that is characterized.. [+]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.
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kleptomania
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Pathological stealing
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An impulse control disorder that involves the repe.. [+]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.
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conjugate gaze palsy
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Palsy of conjugate gaze
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n_a
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chronic progressive external ophthalmoplegia
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progressive external ophthalmoplegia; progressive ..
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progressive external ophthalmoplegia; progressive external ophthalmoplegia (disorder); chronic progressive external ophthalmoplegia [Ambiguous]
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n_a
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hyperprolactinemia
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Pregnancy-related A-G syndrome; Pregnancy-related ..
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Pregnancy-related A-G syndrome; Pregnancy-related A-G syndrome (disorder); hyperprolactinaemia; Chiari-Frommel syndrome
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An acquired metabolic disease that has_material_ba.. [+]An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
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myoclonic cerebellar dyssynergia
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progressive cerebellar tremor; Dyssynergia cerebel..
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progressive cerebellar tremor; Dyssynergia cerebellaris myoclonica
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n_a
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newborn respiratory distress syndrome
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pulmonary hypoperfusion syndrome of newborn; pulmo..
[+]
pulmonary hypoperfusion syndrome of newborn; pulmonary hyaline membrane disease; respiratory distress syndrome of newborn; Neonatal respiratory Distress syndrome; hyaline membrane disease; HMD - Hyaline membrane disease
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A respiratory failure that is characterized by def.. [+]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.
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multiple epiphyseal dysplasia
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polyepiphyseal dysplasia
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An osteochondrodysplasia that has_material_basis_i.. [+]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.
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intermediate uveitis
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peripheral uveoretinitis; chronic cyclitis
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n_a
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diabetic polyneuropathy
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Polyneuropathy in diabetes; Diabetes mellitus with..
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Polyneuropathy in diabetes; Diabetes mellitus with polyneuropathy; Diabetic polyneuropathy (disorder); Diabetic polyneuropathy
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n_a
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Guillain-Barre syndrome
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Post-infectious polyneuritis; Postinfectious polyn..
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Post-infectious polyneuritis; Postinfectious polyneuritis; acute infective polyneuritis; Infectious neuronitis; acute inflammatory demyelinating polyradiculopathy; acute postinfectious polyneuropathy
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An autoimmune disease of peripheral nervous system.. [+]An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
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thromboangiitis obliterans
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Presenile gangrene; Presenile gangrene (disorder); ..
[+]
Presenile gangrene (disorder); Presenile gangrene; Buerger's disease; Thromboangiitis obliterans (disorder); Thromboangiitis obliterans [Buerger's disease]; Thromboangiitis obliterans NOS (disorder); Thromboangiitis obliterans
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n_a
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dilated cardiomyopathy
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primary dilated cardiomyopathy; Idiopathic dilatio..
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primary dilated cardiomyopathy; Idiopathic dilation cardiomyopathy; Congestive cardiomyopathy; Familial dilated cardiomyopathy
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An intrinsic cardiomyopathy that is characterized .. [+]An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
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3 articles
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retinopathy of prematurity
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premature retinopathy; Retrolental fibroplasia
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n_a
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Moyamoya disease
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progressive intracranial arterial occlusion
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A cerebral arterial disease characterized by const.. [+]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.
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severe pre-eclampsia
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postpartum severe pre-eclampsia; antepartum severe..
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postpartum severe pre-eclampsia; antepartum severe pre-eclampsia; severe preeclampsia; Severe pre-eclampsia, with delivery
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A pre-eclampsia that has_symptom at least one of t.. [+]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.
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Werdnig-Hoffmann disease
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progressive muscular atrophy of infancy; HMN (Here..
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progressive muscular atrophy of infancy; HMN (Hereditary motor Neuropathy) Proximal type I; infantile muscular atrophy; Werdnig-Hoffman disease; hereditary motor neuropathy proximal type I; SMA1; Spinal muscular atrophy 1
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A childhood spinal muscular atrophy that is a seve.. [+]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.
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allergic bronchopulmonary aspergillosis
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pulmonary aspergillus disease
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An aspergillosis that involves an allergic reactio.. [+]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.
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