Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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brachydactyly type E1 |
BDE1
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A brachydactyly characterized by shortening of the..[+]
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brachydactyly type A1B |
BDA1B
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A brachydactyly type A1 characterized by shortened..[+]
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brachydactyly type B2 |
BDB2
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A brachydactyly characterized by hypoplasia/aplasi..[+]
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brachydactyly type E2 |
BDE2
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A characterized byautosomal dominant inheritance o..[+]
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brachydactyly type A1C |
BDA1C
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A brachydactyly type A1 has_material_basis_in homo..[+]
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brachydactyly type A1D |
BDA1D
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A brachydactyly type A1 that has_material_basis_in..[+]
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Bernard-Soulier syndrome type A2 |
BSSA2
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A Bernard-Soulier syndrome characterized by autoso..[+]
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birdshot chorioretinopathy |
A posterior uveitis characterized by multiple smal..[+]
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Boucher-Neuhauser syndrome |
ataxia-hypogonadism-choroidal dystrophy syndrome
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A syndrome characterized by spinocerebellar ataxia..[+]
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Behr syndrome |
BEHRS; Abortive cerebellar ataxia (BEHRS); optic a..
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A nervous system disease characterized by early-on..[+]
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B cell and dendritic cell deficiency |
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A combined immunodeficiency characterized by impai..[+]
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Bosch-Boonstra-Schaaf optic atrophy syndrome |
BBSOAS; optic atrophy-intellectual disability synd..
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A syndrome characterized by delayed development, m..[+]
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brain small vessel disease 2 |
BSVD2; porencephaly 2
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A brain small vessel disease characterized by dist..[+]
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hematopoietic system disease |
An immune system disease that has_material_basis_i..[+]
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intestinal infectious disease |
bacterial enteritis
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An intestinal disease that involves intestinal inf..[+]
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esophageal varix |
n_a
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vascular cancer |
A cardiovascular cancer that is located_in blood v..[+]
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exostosis |
A hyperostosis that involves formation of new bone..[+]
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hyperostosis |
bone hypertrophy; hypertrophy of bone; hypertrophy..
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A bone remodeling disease that results in an abnor..[+]
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epididymis adenomatoid tumor |
benign Epididymal epithelial Mesothelioma; adenoma..
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n_a
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adenomatoid tumor |
benign localized epithelial Mesothelioma; adenomat..
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n_a
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holocarboxylase synthetase deficiency |
Biotin-(propionyl-CoA-carboxylase) ligase deficien..
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A multiple carboxylase deficiency that involves a ..[+]
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mitral valve prolapse |
Barlow's syndrome; floppy mitral valve; mitral lea..
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A mitral valve disease where one or both of the cu..[+]
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chronic lymphocytic leukemia |
A lymphoblastic leukemia characterized by over pro..[+]
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pertussis |
bordetella infection; WC - Whooping cough; whoopin..
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A commensal bacterial infectious disease that resu..[+]
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Diamond-Blackfan anemia |
Blackfan - Diamond syndrome; chronic constitutiona..
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A congenital hypoplastic anemia that is characteri..[+]
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urinary schistosomiasis |
bladder Schistosomiasis; cystitis with bilharziasi..
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A schistosomiasis that involves parasitic infectio..[+]
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cerebral degeneration |
Brain degeneration
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A brain disease that is characterized by loss of s..[+]
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geographic tongue |
benign migratory glossitis; Glossitis areata exfol..
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An atrophic glossitis that is characterized as an ..[+]
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lymphangioma |
benign lymphangioma (morphologic abnormality); Con..
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n_a
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supratentorial cancer |
Brain neoplasm, Supratentorial; malignant Supraten..
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A brain cancer that is located_in the supratentori..[+]
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hyperuricemia |
Blood urate raized; (Blood urate raized) or (hyper..
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An acquired metabolic disease that has_material_ba..[+]
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Rubinstein-Taybi syndrome |
Broad Thumb-Hallux syndrome; proximal chromosome 1..
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An autosomal dominant disease characterized by sho..[+]
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pneumonic tularemia |
bronchopneumonic tularemia; Pneumonic tularaemia; ..
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A tularemia that is located_in lungs. The bacteria..[+]
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Glanzmann's thrombasthenia |
BDPLT2; deficiency of glycoprotein complex IIb-III..
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A blood coagulation disease characterized by autos..[+]
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kernicterus |
bilirubin encephalopathy
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A brain disease that is characterized by hyperbili..[+]
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nevoid basal cell carcinoma syndrome |
basal cell nevus syndrome; Gorlin syndrome
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n_a
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hematologic cancer |
blood cancer; Hematologic malignancy; Hematologic ..
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An organ system cancer located in the hematologica..[+]
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Wolffian duct adenoma |
benign mesonephroma; Mesonephric adenoma; Mesoneph..
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A reproductive organ benign neoplasm that derives_..[+]
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ovarian Brenner tumor |
An ovarian benign neoplasm that has_material_basis..[+]
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myoepithelioma |
benign myoepithelioma; Myoepithelial adenoma; Myoe..
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A sweat gland neoplasm that is composed_of outgrow..[+]
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adult mesoblastic nephroma |
benign MEST; MEST; mixed epithelial and stromal tu..
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A mixed neoplasm that is seen mostly in early infa..[+]
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myoma |
benign neoplasm of the Muscle
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n_a
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nodular tenosynovitis |
n_a
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glycogen storage disease IV |
Branching-transferase deficiency glycogenosis (dis..
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n_a
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asthma |
bronchial hyperreactivity; chronic obstructive ast..
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A bronchial disease that is characterized by chron..[+]
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prostatic adenoma |
n_a
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IgA glomerulonephritis |
Berger's IgA or IgG nephropathy; Focal Glomerulone..
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A glomerulonephritis characterized by build up of ..[+]
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familial Mediterranean fever |
benign paroxysmal peritonitis
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An autoimmune disease characterized by recurrent e..[+]
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scleredema adultorum |
Buschke's scleredema
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A skin disease that is characterized by induration..[+]
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