Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Brown-Vialetto-Van Laere syndrome 2 |
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A Brown-Vialetto-Van Laere syndrome that is charac..[+]
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Brucella abortus brucellosis |
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A brucellosis that involves an infection caused by..[+]
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Brucella canis brucellosis |
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A brucellosis involving an infection caused by Bru..[+]
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Brucella melitensis brucellosis |
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A brucellosis that involves an infection caused by..[+]
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Brucella suis brucellosis |
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A brucellosis that involves an infection caused by..[+]
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Bruck syndrome |
osteogenesis imperfecta with congenital joint cont..
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A syndrome characterized by a combination of multi..[+]
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Brugada syndrome |
Bangungut; Brugada type idiopathic ventricular fib..
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A heart conduction disease that is characterized b..[+]
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Brugada syndrome 1 |
BRGDA1;
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A Brugada syndrome that has_material_basis_in hete..[+]
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Brugada syndrome 2 |
BRGDA2;
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A Brugada syndrome that has material basis in hete..[+]
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Brugada syndrome 3 |
BRGDA3;
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A Brugada syndrome that has_material_basis_in hete..[+]
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Brugada syndrome 4 |
BRGDA4;
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A Brugada syndrome that has material basis in hete..[+]
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Brugada syndrome 5 |
BRGDA5;
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A Brugada syndrome that has material basis in hete..[+]
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Brugada syndrome 6 |
BRGDA6;
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A Brugada syndrome that has_material_basis_in hete..[+]
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Brugada syndrome 7 |
BRGDA7;
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A Brugada syndrome that has_material_basis_in hete..[+]
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Brugada syndrome 8 |
BRGDA8;
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A Brugada syndrome that has material basis in hete..[+]
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Brugada syndrome 9 |
BRGDA9;
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A Brugada syndrome that has material basis in hete..[+]
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Brunner Syndrome |
monoamine oxidase A deficiency;
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An amino acid metabolic disorder characterized by ..[+]
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Bruton-type agammaglobulinemia |
Bruton agammaglobulinemia tyrosine kinase deficien..
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A B cell deficiency that is that has material basi..[+]
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Budd-Chiari syndrome |
hepatic vein thrombosis;
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n_a
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Burkitt lymphoma |
Burkitt lymphoma/leukaemia; Burkitt's Lymphoma; Bu..
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A mature B-cell neoplasm of B-cells found in the g..[+]
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Buruli ulcer disease |
Bairnsdale ulcer; Daintree ulcer; Mossman ulcer; S..
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A primary bacterial infectious disease that result..[+]
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C-P angle neurinoma |
Cerebellopontine Angle Neurinoma;
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n_a
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C1 inhibitor deficiency |
Quincke edema;
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A complement deficiency that is a functional defic..[+]
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CADASIL |
cerebral autosomal dominant arteriopathy with subc..
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An autosomal dominant cerebrovascular disorder cha..[+]
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CADASIL 1 |
autosomal dominant cerebral arteriopathy with subc..
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A CADASIL characterized by migraine, strokes, and ..[+]
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CADASIL 2 |
autosomal dominant cerebral arteriopathy with subc..
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A CADASIL characterized by stroke, transient ische..[+]
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CAKUT |
Congenital anomalies of the kidney and urinary tra..
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A urinary system disease characterized by structur..[+]
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CAKUT1 |
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A CAKUT that has_material_ basis_in heterozygous m..[+]
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CAKUT2 |
Congenital anomalies of the kidney and urinary tra..
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A CAKUT that has_material_basis_in heterozygous mu..[+]
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CD3delta deficiency |
CD3D;
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A severe combined immunodeficiency that is charact..[+]
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CD3epsilon deficiency |
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A severe combined immunodeficiency that is an auto..[+]
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CD3gamma deficiency |
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A severe combined immunodeficiency an autosomal re..[+]
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CD3zeta deficiency |
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A severe combined immunodeficiency that affects th..[+]
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CD40 deficiency |
hyper-IgM syndrome due to CD40 deficiency; immunod..
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A combined T cell and B cell immunodeficiency that..[+]
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CD40 ligand deficiency |
HIGMX-1; X-linked hyper-IgM syndrome;
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A combined T cell and B cell immunodeficiency that..[+]
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CD45 deficiency |
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A severe combined immunodeficiency that is an auto..[+]
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CEDNIK syndrome |
cerebral dysgenesis, neuropathy, ichthyosis and ke..
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An autosomal recessive disease that has material b..[+]
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CHARGE syndrome |
CHARGE association;
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A syndrome that is acterized by a pattern of conge..[+]
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CHILD syndrome |
CHILD nevus; congenital hemidysplasia with ichthyo..
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A syndrome characterized by congenital hemidysplas..[+]
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CINCA Syndrome |
chronic infantile neurological cutaneous articular..
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An autoimmune disease characterized by neonatal on..[+]
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CK syndrome |
X-linked intellectual disability-microcephaly-cort..
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A lipid metabolism disorder characterized by incre..[+]
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CLL/SLL |
chronic lymphocytic leukemia/small lymphocytic lym..
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A chronic lymphocytic leukemia that is characteriz..[+]
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CREST syndrome |
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A syndrome characterized by calcinosis, Raynaud's ..[+]
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CST3-related cerebral amyloid angiopathy |
Amyloidosis VI; Amyloidosis, Cerebroarterial, Icel..
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A cerebral amyloid angiopathy that has_material_ba..[+]
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Caffey disease |
cortical congenital hyperostosis; infantile cortic..
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A bone inflammation disease that causes bone chang..[+]
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Camurati-Engelmann disease |
Diaphyseal dysplasia; Engelman's disease; progress..
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An osteosclerosis that has_material_basis_in mutat..[+]
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Canavan disease |
CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degen..
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n_a
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Capgras syndrome |
Capgras delusion theory;
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A delusional disorder in which a person holds a de..[+]
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Caplan's syndrome |
Caplan syndrome; Caplan's disease; Caplans syndrom..
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A pneumoconiosis that results_in humans that also ..[+]
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Carey-Fineman-Ziter syndrome |
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A syndrome characterized by hypotonia, Moebius seq..[+]
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