Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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focal labyrinthitis |
A labyrinthitis which is an infectious inflammator..[+]
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Tietze's syndrome |
n_a
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aorta atresia |
Congenital atresia and stenosis of aorta; Atresia ..
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An aortic disease that is characterized by an abse..[+]
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root caries |
Cementum caries; Dental caries of root surface; Ro..
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n_a
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boutonneuse fever |
Conor and Bruch's disease; african tick typhus; Af..
[+]
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A spotted fever that has_material_basis_in Rickett..[+]
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multiple symmetric lipomatosis |
cervical Symmetrical Lipomatosis; Launois-Bensaude..
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n_a
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ureterolithiasis |
calculus of ureter; Ureteric calculus; Ureteric st..
[+]
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n_a
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rheumatic congestive heart failure |
Congestive rheumatic heart failure (disorder); Rhe..
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n_a
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hypophosphatasia |
childhood hypophosphatasia (disorder); deficiency ..
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n_a
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tracheal calcification |
Calcification of trachea
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n_a
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Down syndrome |
A chromosomal disease that is characterized by fla..[+]
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oral candidiasis |
Candidiasis of mouth; Oral moniliasis; thrush; Thr..
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A candidiasis that involves fungal infection of th..[+]
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neurogenic arthropathy |
n_a
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LEOPARD syndrome |
n_a
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systemic primary carnitine deficiency disease |
An amino acid metabolic disorder that involves def..[+]
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norwegian scabies |
Crusted scabies
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A scabies that involves infestation of human itch ..[+]
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Legg-Calve-Perthes disease |
An osteochondrosis that results_in death and fract..[+]
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WAGR syndrome |
chromosome 11p13 deletion syndrome; 11p partial mo..
[+]
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A chromosomal deletion syndrome that is a nephrobl..[+]
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disease of cellular proliferation |
cell process disease; neoplasm
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A disease that is characterized by abnormally rapi..[+]
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thrombocytopenia-absent radius syndrome |
chromosome 1q21.1 deletion syndrome; Radial aplasi..
[+]
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n_a
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Sotos syndrome |
cerebral gigantism
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An autosomal recessive disease that occurs rarely ..[+]
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hypohidrotic ectodermal dysplasia |
Christ-Siemens-Touraine Syndrome; anhidrotic ectod..
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A monogenic disease that is characterized by malfo..[+]
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amodiaquine allergy |
Camoquin allergy; Flavoquine allergy
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A drug allergy that has_allergic_trigger amodiaqui..[+]
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Rocky Mountain spotted fever |
Choix; So Paulo fever; Brazillian spotted; Exanthe..
[+]
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A spotted fever that has_material_basis_in Rickett..[+]
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La Crosse encephalitis |
A viral infectious disease that results_in inflamm..[+]
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adenoiditis |
chronic adenoiditis
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An upper respiratory tract disease which involves ..[+]
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idiopathic pulmonary fibrosis |
cryptogenic fibrosing alveolitis; FIBROCYSTIC PULM..
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An idiopathic interstitial pneumonia which is a di..[+]
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tick-borne encephalitis |
Central European encephalitis; Far Eastern TBE; Ru..
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A viral infectious disease that results_in inflamm..[+]
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Wolf-Hirschhorn syndrome |
chromosome 4p16.3 deletion syndrome; 4p deletion s..
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A chromosomal deletion syndrome that is characteri..[+]
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Weill-Marchesani syndrome |
congenital mesodermal dystrophy; GEMSS syndrome; M..
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An autosomal genetic disease characterized by shor..[+]
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endemic typhus |
cat flea rickettsiosis; fleaborne typhus; murine t..
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A typhus that has_material_basis_in Rickettsia typ..[+]
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posterior polar cataract |
CATARACT, POSTERIOR POLAR
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n_a
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hereditary sensory neuropathy |
congenital insensitivity to pain; familial dysauto..
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A neuropathy characterized by congenital insensiti..[+]
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Walker-Warburg syndrome |
cerebroocular dysplasia-muscular dystrophy syndrom..
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n_a
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Sensenbrenner syndrome |
cranioectodermal dysplasia; Levin syndrome
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n_a
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muscular dystrophy-dystroglycanopathy type B1 |
CMD due to dystroglycanopathy; Muscular dystrophy-..
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A congenital muscular dystrophy characterized by m..[+]
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Aicardi-Goutieres syndrome |
Cree encephalitis
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An autosomal recessive disease that is a genetical..[+]
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transthyretin amyloidosis |
Corino de Andrade's disease; Amyloidosis, heredita..
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An amyloidosis that is characterized by a loss of ..[+]
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Bannayan-Riley-Ruvalcaba syndrome |
Cowden syndrome 1; BANNAYAN-ZONANA SYNDROME; RILEY..
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A Cowden syndrome that is characterized by macroce..[+]
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AGAT deficiency |
CEREBRAL CREATINE DEFICIENCY SYNDROME 3; arginine:..
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An amino acid metabolic disorder that has_material..[+]
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fatal infantile encephalocardiomyopathy |
cardioencephalomyopathy, fatal infantile, due to c..
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A mitochondrial metabolism disease that has_materi..[+]
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methylmalonic aciduria and homocystinuria type cblC |
Cobalamin C deficiency
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A methylmalonic acidemia that has_material_basis_i..[+]
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methylmalonic aciduria and homocystinuria type cblD |
Cobalamin D deficiency
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A methylmalonic aciduria that is characterized by ..[+]
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methylmalonic aciduria and homocystinuria type cblF |
Cobalamin F deficiency
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A methylmalonic acidemia that is characterized by ..[+]
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neutral lipid storage disease |
Chanarin-Dorfman syndrome
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A lipid storage disease that is characterized by a..[+]
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vitamin B12 deficiency |
cobalamin deficiency; hypocobalaminemia
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A vitamin metabolic disorder that results from low..[+]
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paraganglioma |
chemodectoma
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n_a
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proximal symphalangism |
Cushing's symphalangism
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An autosomal dominant disease that is characterize..[+]
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multiple cutaneous and mucosal venous malformations |
cutaneomucosal venous malformation; mucocutaneous ..
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A vein disease that is characterized by multiple b..[+]
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guanidinoacetate methyltransferase deficiency |
A cerebral creatine deficiency syndrome that is ch..[+]
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