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Disease	Synonyms	Description	Articles	Phenotypes
Brown-Sequard syndrome	Brown-Squard syndrome (disorder); Brown-Squard syn.. [+] Brown-Squard syndrome (disorder); Brown-Squard syndrome; [-]	n_a
Brown-Vialetto-Van Laere syndrome		A syndrome that is characterized by sensorineural ..[+] A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. [-]
Brown-Vialetto-Van Laere syndrome 1		A Brown-Vialetto-Van Laere syndrome that is charac..[+] A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. [-]
Brucella abortus brucellosis		A brucellosis that involves an infection caused by..[+] A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. [-]
Brucella canis brucellosis		A brucellosis involving an infection caused by Bru..[+] A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. [-]
Brucella melitensis brucellosis		A brucellosis that involves an infection caused by..[+] A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. [-]
Brucella suis brucellosis		A brucellosis that involves an infection caused by..[+] A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. [-]
Bruck syndrome	osteogenesis imperfecta with congenital joint cont.. [+] osteogenesis imperfecta with congenital joint contractures; [-]	A syndrome characterized by a combination of multi..[+] A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. [-]
Brugada syndrome	Brugada type idiopathic ventricular fibrillation; .. [+] Brugada type idiopathic ventricular fibrillation; Pokkuri death syndrome; sudden unexplained nocturnal death syndrome; Dream disease; Bangungut; SUNDS; [-]	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. [-]	4 articles
Brugada syndrome 1	BRGDA1;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22. [-]	1 articles
Brugada syndrome 2	BRGDA2;	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. [-]
Brugada syndrome 3	BRGDA3;	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. [-]
Brugada syndrome 4	BRGDA4;	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. [-]
Brugada syndrome 5	BRGDA5;	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. [-]
Brugada syndrome 6	BRGDA6;	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. [-]
Brugada syndrome 7	BRGDA7;	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24. [-]
Brugada syndrome 8	BRGDA8;	A Brugada syndrome that has_material_basis_in hete..[+] A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. [-]
Brugada syndrome 9	BRGDA9;	A Brugada syndrome that has material basis in hete..[+] A Brugada syndrome that has material basis in heterozygous mutation in the KCND3 gene on chromosome 1p13. [-]
Brunner Syndrome	monoamine oxidase A deficiency;	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. [-]
Budd-Chiari syndrome	hepatic vein thrombosis;	A hepatic vascular disease that is characterized b..[+] A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. [-]
Burkitt lymphoma	Burkitt lymphoma/leukaemia; Burkitt's tumor; malig.. [+] Burkitt lymphoma/leukaemia; Burkitt's tumor; malignant lymphoma, Burkitt's type; small Non-Cleaved cell Lymphoma, Burkitt's type; Burkitt's tumor or lymphoma; Burkitt's Lymphoma; [-]	A mature B-cell neoplasm of B-cells found in the g..[+] A mature B-cell neoplasm of B-cells found in the germinal center. [-]	1 articles
Burn-McKeown syndrome	Choanal atresia - deafness - cardiac defects - dys.. [+] Choanal atresia - deafness - cardiac defects - dysmorphism syndrome; [-]	A syndrome that is characterized by bilateral choa..[+] A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, \nhearing loss, heart abnormalities, and short stature. [-]
Buruli ulcer disease	Bairnsdale ulcer; Daintree ulcer; Searle's ulcer; .. [+] Bairnsdale ulcer; Daintree ulcer; Searle's ulcer; Searl ulcer; Mossman ulcer; [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. [-]
Buschke-Ollendorff syndrome	BOS; dermatofibrosis lenticularis disseminata with.. [+] BOS; dermatofibrosis lenticularis disseminata with osteopoikilosis; disseminated dermatofibrosis with osteopoikilosis; osteopathia condensans disseminata; dermatoosteopoikilosis; [-]	A syndrome characterized by multiple subcutaneous ..[+] A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. [-]
C syndrome	Opitz C trigonocephaly; Opitz trigonocephaly C syn.. [+] Opitz C trigonocephaly; Opitz trigonocephaly C syndrome; Opitz trigonocephaly syndrome; OTCS; trigonocephaly C syndrome; [-]	A syndrome characterized by trigonocephaly, psycho..[+] A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. [-]
C-P angle neurinoma	Cerebellopontine Angle Neurinoma;	n_a
C1 inhibitor deficiency	Quincke edema;	A complement deficiency that is a functional defic..[+] A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. [-]
CADASIL	hereditary multi-infarct dementia; cerebral autoso.. [+] hereditary multi-infarct dementia; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; [-]	A leukodystrophy characterized by recurrent subcor..[+] A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. [-]	1 articles
CADASIL 1	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1; [-]	A CADASIL characterized by migraine, strokes, and ..[+] A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. [-]
CADASIL 2	autosomal dominant cerebral arteriopathy with subc.. [+] autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2; [-]	A CADASIL characterized by stroke, transient ische..[+] A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. [-]
CAKUT	Congenital anomalies of the kidney and urinary tra.. [+] Congenital anomalies of the kidney and urinary tract; Renal or urinary tract malformation; [-]	A urinary system disease characterized by structur..[+] A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. [-]	8 articles	21 matches
CAKUT1	Congenital anomalies of the kidney and urinary tra.. [+] Congenital anomalies of the kidney and urinary tract 1; [-]	A CAKUT that has_material_basis_in heterozygous mu..[+] A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. [-]
CAKUT2		A CAKUT that has_material_basis_in heterozygous mu..[+] A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. [-]
CD3delta deficiency	CD3D;	A severe combined immunodeficiency that is charact..[+] A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. [-]
CD3epsilon deficiency		A severe combined immunodeficiency that is an auto..[+] A severe combined immunodeficiency that is an autosomal recessive immunodeficiency that has material basis in mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. [-]
CD3gamma deficiency		A severe combined immunodeficiency that has_materi..[+] A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. [-]
CD3zeta deficiency		A severe combined immunodeficiency that affects th..[+] A severe combined immunodeficiency that affects the development and function of T cells. [-]
CD40 ligand deficiency	HIGMX-1; X-linked hyper-IgM syndrome;	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. [-]
CD45 deficiency		A severe combined immunodeficiency that is an auto..[+] A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. [-]
CEDNIK syndrome	cerebral dysgenesis, neuropathy, ichthyosis and ke.. [+] cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome; [-]	A syndrome that has_material_basis_in homozygous m..[+] A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. [-]
CHARGE syndrome	CHARGE association;	A syndrome that is characterized by a pattern of c..[+] A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. [-]	11 articles
CHILD syndrome	CHILD nevus; congenital hemidysplasia with ichthyo.. [+] CHILD nevus; congenital hemidysplasia with ichthyosiform nevus and limbs defects; [-]	A syndrome characterized by congenital hemidysplas..[+] A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. [-]
CHIME syndrome	coloboma-congenital heart disease-ichthyosiform de.. [+] coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; congenital disorder of glycosylation due to PIGL deficiency; neuroectodermal dysplasia, CHIME type; neuroectodermal syndrome, Zunich type; PIGL-CDG; Zunich neuroectodermal syndrome; Zunich-Kaye syndrome; [-]	A syndrome characterized by colobomas, congenital ..[+] A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. [-]
CIC-rearranged sarcoma	Capicua transcriptional repressor (CIC)-rearranged.. [+] Capicua transcriptional repressor (CIC)-rearranged sarcoma; [-]	An EWSERI-negative small round cell tumor that is ..[+] An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. [-]
CINCA Syndrome	chronic infantile neurological cutaneous articular.. [+] chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome; IOMID syndrome; infantile-onset multisystem inflammatory disease; [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
CK syndrome	X-linked intellectual disability-microcephaly-cort.. [+] X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome; [-]	A lipid metabolism disorder characterized by incre..[+] A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. [-]
CLOVES syndrome	congenital lipomatous overgrowth, vascular malform.. [+] congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; [-]	A syndrome that is characterized by congenital lip..[+] A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. [-]
CNS neuroblastoma with FOXR2 activation	central nervous system neuroblastoma with FOXR2 ac.. [+] central nervous system neuroblastoma with FOXR2 activation; CNS NB-FOXR2; CNS neuroblastoma, FOXR2-activated; [-]	A central nervous system neuroblastoma that is cha..[+] A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. [-]
COACH syndrome	cerebellar vermis hypo/aplasia, oligophrenia, cong.. [+] cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; Gentile syndrome; JS-H; Joubert syndrome with congenital hepatic fibrosis; Joubert syndrome with hepatic defect; [-]	A syndrome characterized by autosomal recessive in..[+] A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). [-]
CODAS syndrome	cerebro-oculo-dento-auriculo-skeletal syndrome; ce.. [+] cerebro-oculo-dento-auriculo-skeletal syndrome; cerebral, ocular, dental, auricular, and skeletal syndrome; [-]	A syndrome characterized by developmental delay, a..[+] A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. [-]

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