| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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spastic hemiplegia
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Congenital hemiplegia; Hemiplegic infantile cerebr..
[+]
Congenital hemiplegia; Hemiplegic infantile cerebral palsy; spastic hemiplegic cerebral palsy; Hemiplegic cerebral palsy; hemiplegic cerebral palsy
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A spastic cerebral palsy that affects one side of .. [+]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.
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prostatic cyst
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Cyst of prostate
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n_a
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respiratory failure
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chronic respiratory failure; acute respiratory Fai..
[+]
chronic respiratory failure; acute respiratory Failure; acute and chronic respiratory failure; respiratory insufficiency/failure; acute-on-chronic respiratory failure
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A lung disease characterized by inadequate gas exc.. [+]A lung disease characterized by inadequate gas exchange by the respiratory system.
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1 articles
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anogenital venereal wart
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Condyloma acuminatum; Anogenital warts; Genital wa..
[+]
Condyloma acuminatum; Anogenital warts; Genital warts; Anogenital Human papilloma Virus Infectious Disease; venereal wart; genital wart virus infectious disease
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A viral infectious disease that results_in infecti.. [+]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.
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syndactyly
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chromosome 2q35 duplication syndrome; symphalangis..
[+]
chromosome 2q35 duplication syndrome; symphalangism; symphalangy; webbing of digits
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A synostosis that results_in the fusion of two or .. [+]A synostosis that results_in the fusion of two or more digits.
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2 articles
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acute contagious conjunctivitis
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Contagious opthalmia; Pink eye; Pinkeye
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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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adhesive otitis media
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chronic adhesive otitis media
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An auditory system disease that is characterized b.. [+]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.
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appendix cancer
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cancer of the appendix; malignant neoplasm of appe..
[+]
cancer of the appendix; malignant neoplasm of appendix vermiformis; malignant tumor of the appendix; malignant tumor of appendix (disorder); malignant tumor of appendix
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A intestinal cancer that is located_in the appendi.. [+]A intestinal cancer that is located_in the appendix.
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1 articles
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typhus
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Classical typhus (fever); Classical typhus; endemi..
[+]
Classical typhus; 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; epidemic louse-borne typhus; Flea typhus; Jail fever; Murine [endemic] typhus; Prison fever; Typhus exanthematique; Epidemic louse-borne typhus fever due to Rickettsia prowazekii; Flea-borne typhus; Hospital fever; Louse-borne rickettsiosis; Moscow typhus; Petechial fever
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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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arteriovenous malformation
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Cirsoid aneurysm; Arteriovenous hemangioma (disord..
[+]
Cirsoid aneurysm; Arteriovenous hemangioma (disorder); Racemose Angioma; Racemose hemangioma (morphologic abnormality); Racemose aneurysm (morphologic abnormality); Arteriovenous hemangioma; Racemose aneurysm; Racemose hemangioma
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A hemangioma that is characterized by a configurat.. [+]A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.
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tetanus
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clostridial tetanus; Infection due to Clostridium ..
[+]
clostridial tetanus; Infection due to Clostridium tetani
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A primary bacterial infectious disease that result.. [+]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.
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arcus senilis
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corneal arcus; Arcus of cornea
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n_a
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stone in bladder diverticulum
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calculus in diverticulum of bladder
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n_a
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diphtheria
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corynebacterium infection
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A primary bacterial infectious disease that is cha.. [+]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.
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subglottis cancer
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Ca larynx - subglottis (disorder); Ca larynx - sub..
[+]
Ca larynx - subglottis (disorder); Ca larynx - subglottis; malignant tumor of subglottis (disorder); malignant tumor of subglottis; malignant Subglottic tumor
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n_a
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Horner's syndrome
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cervical sympathetic paralysis; Bernard Horner syn..
[+]
cervical sympathetic paralysis; Bernard Horner syndrome; Horner syndrome
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An autonomic neuropathy that is characterized by t.. [+]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.
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mitral valve insufficiency
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congenital mitral regurgitation; Congenital insuff..
[+]
congenital mitral regurgitation; Congenital insufficiency of mitral valve; congenital mitral insufficiency; Congenital insufficiency of mitral valve (disorder); mitral regurgitation; Mitral valve incompetence
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n_a
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fissured tongue
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Congenital plicated tongue; Congenital fissure of ..
[+]
Congenital plicated tongue; Congenital fissure of tongue; geographic tongue and fissured tongue; Plicated 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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neurocirculatory asthenia
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Cardiovascular neurosis; Cardiovascular malfunctio..
[+]
Cardiovascular neurosis; Cardiovascular malfunction arising from mental factors; Da Costa's syndrome; Krishaber's disease
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A somatoform disorder that involves heart disease .. [+]A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities.
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penile cancer
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Ca penis; malignant neoplasm of body of penis; Pen..
[+]
Ca penis; malignant neoplasm of body of penis; Penile Ca; malignant Penile tumor; penile neoplasm
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n_a
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bronchopulmonary dysplasia
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Chronic lung disease of prematurity; Bronchopulmon..
[+]
Chronic lung disease of prematurity; Bronchopulmonary dysplasia of newborn (disorder); neonatal chronic respiratory disease; Perinatal bronchopulmonary dysplasia; Bronchopulmonary dysplasia of newborn; 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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myotonic dystrophy type 1
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congenital myotonic dystrophy; Dystrophia myotonic..
[+]
congenital myotonic dystrophy; Dystrophia myotonica; myotonic dystrophy of Steinert; Steinert disease
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A myotonic disease that is characterized by progre.. [+]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.
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tracheal cancer
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Ca trachea; malignant neoplasm of trachea; maligna..
[+]
Ca trachea; malignant neoplasm of trachea; malignant Tracheal tumor; malignant tumor of trachea (disorder); tracheal neoplasm
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A respiratory system cancer that is located_in the.. [+]A respiratory system cancer that is located_in the trachea.
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1 articles
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factor VIII deficiency
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classic hemophilia A; Congenital factor VIII disor..
[+]
classic hemophilia A; Congenital factor VIII disorder; Subhemophilia; Hemophilia A
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A blood coagulation disease that has_material_basi.. [+]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.
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descending colon cancer
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Ca descending colon; Ca descending colon (disorder..
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Ca descending colon; Ca descending colon (disorder); malignant neoplasm of left colon; malignant tumor of descending colon (disorder); malignant tumor of descending colon
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n_a
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splenic flexure cancer
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Ca splenic flexure - colon (disorder); Ca splenic ..
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Ca splenic flexure - colon (disorder); Ca splenic flexure - colon; malignant neoplasm of splenic flexure; malignant tumor of splenic flexure (disorder); malignant tumor of splenic flexure
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n_a
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sigmoid colon cancer
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Ca sigmoid colon; Ca sigmoid colon (disorder); mal..
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Ca sigmoid colon (disorder); Ca sigmoid colon; malignant tumor of sigmoid colon (disorder); malignant tumor of sigmoid colon
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n_a
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dengue disease
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classic dengue; classical dengue; Dengue Fever; br..
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classical dengue; classic dengue; Dengue Fever; breakbone fever
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A viral infectious disease that results in infecti.. [+]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.
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1 articles
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primary biliary cholangitis
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chronic nonsuppurative destructive cholangitis; ch..
[+]
chronic nonsuppurative destructive cholangitis; cholestatic cirrhosis; biliary liver cirrhosis; primary biliary cirrhosis
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A liver cirrhosis characterized by chronic and slo.. [+]A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
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hemophilia B
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Congenital factor IX disorder; Congenital factor I..
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Congenital factor IX disorder; Congenital factor IX deficiency; deficiency, functional factor IX; factor IX deficiency
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A blood coagulation disease that has_material_basi.. [+]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.
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intrahepatic gall duct cancer
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Ca intrahepatic bile ducts; Ca intrahepatic bile d..
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Ca intrahepatic bile ducts; Ca intrahepatic bile ducts (disorder); malignant neoplasm of intrahepatic bile ducts NOS (disorder); malignant neoplasm of intrahepatic biliary passages; malignant neoplasm of intrahepatic gall duct (disorder); malignant neoplasm of intrahepatic biliary passages (disorder); malignant neoplasm of intrahepatic gall duct; malignant neoplasm of intrahepatic bile ducts
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n_a
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Dubin-Johnson syndrome
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chronic idiopathic jaundice; Dubin Johnson syndrom..
[+]
chronic idiopathic jaundice; Dubin Johnson syndrome
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A bilirubin metabolic disorder that involves eleva.. [+]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.
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retroperitoneum carcinoma
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carcinoma of the retroperitoneum; carcinoma of Ret..
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carcinoma of the retroperitoneum; carcinoma of Retroperitoneum
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n_a
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bronchopneumonia
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Chest infection - bronchopneumonia; Chest infectio..
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Chest infection - bronchopneumonia; Chest infection - unspecified bronchopneumonia; lobular pneumonia; bronchial pneumonia
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A pneumonia involving inflammation of lungs that b.. [+]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.
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neurohypophyseal diabetes insipidus
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central diabetes insipidus; Pituitary diabetes ins..
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central diabetes insipidus; Pituitary 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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pathological gambling
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Compulsive gambling; Pathological gambling
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An impulse control disorder that involves the unco.. [+]An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
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hypermobility of coccyx
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Coccygeal hypermobility syndrome; Coccygeal hyperm..
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Coccygeal hypermobility syndrome; Coccygeal hypermobility syndrome (disorder); hypermobility of coccyx (disorder); hypermobility of the coccyx (disorder); hypermobility of the coccyx
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n_a
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olecranon bursitis
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Capped elbow; Bursitis of elbow; Bursitis of elbow..
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Capped elbow; Bursitis of elbow; Bursitis of elbow region; Elbow bursitis (& olecranon); Miner's elbow; Miners' elbow; Shoe boil; Elbow bursitis
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n_a
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hypertrophic pyloric stenosis
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congenital or infantile stricture of pylorus; cong..
[+]
congenital or infantile stricture of pylorus; congenital hypertrophic pyloric stenosis
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A pyloric stenosis characterized by the enlargemen.. [+]A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
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displacement of cardia through esophageal hiatus
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Congenital hiatus hernia; Congenital hiatus hernia..
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Congenital hiatus hernia; Congenital hiatus hernia (disorder)
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n_a
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blastomycosis
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Chicago disease; Blastomyces Dermatitidis Infectio..
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Chicago disease; Blastomyces Dermatitidis Infection; Infection by Blastomyces dermatitidis; North American blastomycosis; Gilchrist's disease; Blastomycotic infection
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A primary systemic mycosis that results_in a syste.. [+]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.
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hyperprolactinemia
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Chiari-Frommel syndrome; hyperprolactinaemia; Preg..
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Chiari-Frommel syndrome; hyperprolactinaemia; Pregnancy-related A-G syndrome (disorder); Pregnancy-related A-G 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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Ellis-Van Creveld syndrome
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Chondroectodermal dysplasia; Chondroectodermal dys..
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Chondroectodermal dysplasia; Chondroectodermal dysplasia (disorder); mesoectodermal dysplasia; Ellis-van Creveld syndrome
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A syndrome characterized by short limbs, short rib.. [+]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.
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intermediate uveitis
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chronic cyclitis; peripheral uveoretinitis
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n_a
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hypercementosis
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Cementation hyperplasia
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n_a
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migraine without aura
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common migraine
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A migraine that is characterized by migraine heada.. [+]A migraine that is characterized by migraine headaches that are not accompanied by an aura.
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mucopolysaccharidosis IV
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chondroosteodystrophy; deficiency of chondroitinsu..
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chondroosteodystrophy; deficiency of chondroitinsulphatase; deficiency of N-acetylgalactosamine-6-sulphatase; galactosamine-6-sulfatase deficiency; Morquio syndrome A; MPS IV - Morquio syndrome A; MPS IV - Morquio syndrome B; mucopolysaccharidosis type IVA; Mucopolysaccharidosis, MPS-IV-A (disorder); Morquio A disease; Mucopolysaccharidosis type IVB; Osteochondrodystrophy; Mucopolysaccharidosis, MPS-IV
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A mucopolysaccharidosis characterized by a deficie.. [+]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.
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autistic disorder
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childhood autism; autism; autistic disorder of chi..
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childhood autism; autism; autistic disorder of childhood onset; Kanner's syndrome; infantile autism
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An autism spectrum disorder that is characterized .. [+]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.
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3 articles
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Achilles bursitis
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Capped hock; Achilles bursitis or tendinitis; Hagl..
[+]
Capped hock; Achilles bursitis or tendinitis; Haglund's deformity; Haglund's disease
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n_a
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dilated cardiomyopathy
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Congestive cardiomyopathy; Idiopathic dilation car..
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Congestive cardiomyopathy; Idiopathic dilation cardiomyopathy; primary dilated 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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