Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Brown-Sequard syndrome |
Brown-Squard syndrome (disorder); Brown-Squard syn..
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n_a
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Brown-Vialetto-Van Laere syndrome |
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A syndrome that is characterized by sensorineural ..[+]
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Brown-Vialetto-Van Laere syndrome 1 |
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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 |
Brugada type idiopathic ventricular fibrillation; ..
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A heart conduction disease that is characterized b..[+]
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4 articles | |
Brugada syndrome 1 |
BRGDA1;
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A Brugada syndrome that has material basis in hete..[+]
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1 articles | |
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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Budd-Chiari syndrome |
hepatic vein thrombosis;
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A hepatic vascular disease that is characterized b..[+]
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Burkitt lymphoma |
Burkitt lymphoma/leukaemia; Burkitt's tumor; malig..
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A mature B-cell neoplasm of B-cells found in the g..[+]
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1 articles | |
Burn-McKeown syndrome |
Choanal atresia - deafness - cardiac defects - dys..
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A syndrome that is characterized by bilateral choa..[+]
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Buruli ulcer disease |
Bairnsdale ulcer; Daintree ulcer; Searle's ulcer; ..
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A primary bacterial infectious disease that result..[+]
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Buschke-Ollendorff syndrome |
BOS; dermatofibrosis lenticularis disseminata with..
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A syndrome characterized by multiple subcutaneous ..[+]
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C syndrome |
Opitz C trigonocephaly; Opitz trigonocephaly C syn..
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A syndrome characterized by trigonocephaly, psycho..[+]
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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 |
hereditary multi-infarct dementia; cerebral autoso..
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A leukodystrophy characterized by recurrent subcor..[+]
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1 articles | |
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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8 articles | 21 matches |
CAKUT1 |
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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CAKUT2 |
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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 that has_materi..[+]
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CD3zeta deficiency |
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A severe combined immunodeficiency that affects th..[+]
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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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A syndrome that has_material_basis_in homozygous m..[+]
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CHARGE syndrome |
CHARGE association;
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A syndrome that is characterized by a pattern of c..[+]
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11 articles | |
CHILD syndrome |
CHILD nevus; congenital hemidysplasia with ichthyo..
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A syndrome characterized by congenital hemidysplas..[+]
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CHIME syndrome |
coloboma-congenital heart disease-ichthyosiform de..
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A syndrome characterized by colobomas, congenital ..[+]
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CIC-rearranged sarcoma |
Capicua transcriptional repressor (CIC)-rearranged..
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An EWSERI-negative small round cell tumor that is ..[+]
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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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CLOVES syndrome |
congenital lipomatous overgrowth, vascular malform..
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A syndrome that is characterized by congenital lip..[+]
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CNS neuroblastoma with FOXR2 activation |
central nervous system neuroblastoma with FOXR2 ac..
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A central nervous system neuroblastoma that is cha..[+]
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COACH syndrome |
cerebellar vermis hypo/aplasia, oligophrenia, cong..
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A syndrome characterized by autosomal recessive in..[+]
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CODAS syndrome |
cerebro-oculo-dento-auriculo-skeletal syndrome; ce..
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A syndrome characterized by developmental delay, a..[+]
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