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Disease	Synonyms	Description
Brown-Vialetto-Van Laere syndrome 2		A Brown-Vialetto-Van Laere syndrome that is charac..[+] A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. [-]
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	Bangungut; Brugada type idiopathic ventricular fib.. [+] Bangungut; Brugada type idiopathic ventricular fibrillation; Dream disease; Pokkuri death syndrome; sudden unexplained nocturnal death syndrome; 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. [-]
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. [-]
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. [-]
Bruton-type agammaglobulinemia	Bruton agammaglobulinemia tyrosine kinase deficien.. [+] Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's agammaglobulinaemia; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; BTK deficiency; X-linked agammaglobulinemia (disorder); [-]	A B cell deficiency that is that has material basi..[+] A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [-]
Budd-Chiari syndrome	hepatic vein thrombosis;	n_a
Burkitt lymphoma	Burkitt lymphoma/leukaemia; Burkitt's Lymphoma; Bu.. [+] Burkitt lymphoma/leukaemia; Burkitt's Lymphoma; Burkitt's tumor; Burkitt's tumor or lymphoma; malignant lymphoma, Burkitt's type; small Non-Cleaved cell Lymphoma, Burkitt's type; [-]	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. [-]
Buruli ulcer disease	Bairnsdale ulcer; Daintree ulcer; Mossman ulcer; S.. [+] Bairnsdale ulcer; Daintree ulcer; Mossman ulcer; Searl ulcer; Searle's 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. [-]
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	cerebral autosomal dominant arteriopathy with subc.. [+] cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; hereditary multi-infarct dementia; [-]	An autosomal dominant cerebrovascular disorder cha..[+] An autosomal dominant cerebrovascular disorder characterized by recurrent subcortical ischemic stroke and cognitive impairment. [-]
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. [-]
CAKUT1		A CAKUT that has_material_ basis_in heterozygous m..[+] A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. [-]
CAKUT2	Congenital anomalies of the kidney and urinary tra.. [+] Congenital anomalies of the kidney and urinary tract 2; [-]	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 an autosomal re..[+] A severe combined immunodeficiency an autosomal recessive immunodeficiency that has material basis in 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 deficiency	hyper-IgM syndrome due to CD40 deficiency; immunod.. [+] hyper-IgM syndrome due to CD40 deficiency; immunodeficiency with hyper-IgM type 3; type 3 hyper-IgM immunodeficiency ; [-]	A combined T cell and B cell immunodeficiency that..[+] A combined T cell and B cell immunodeficiency that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. [-]
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; [-]	An autosomal recessive disease that has material b..[+] An autosomal recessive disease 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 acterized by a pattern of conge..[+] A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. [-]
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. [-]
CINCA Syndrome	chronic infantile neurological cutaneous articular.. [+] chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; infantile-onset multisystem inflammatory disease; IOMID syndrome; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome; [-]	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. [-]
CLL/SLL	chronic lymphocytic leukemia/small lymphocytic lym.. [+] chronic lymphocytic leukemia/small lymphocytic lymphoma; chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality); [-]	A chronic lymphocytic leukemia that is characteriz..[+] A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. [-]
CREST syndrome		A syndrome characterized by calcinosis, Raynaud's ..[+] A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. [-]
CST3-related cerebral amyloid angiopathy	Amyloidosis VI; Amyloidosis, Cerebroarterial, Icel.. [+] Amyloidosis VI; Amyloidosis, Cerebroarterial, Icelandic Type; Cerebral Hemorrhage, Hereditary, with Amyloidosis; HCHWA; Hereditary Cerebral Hemorrhage with Amyloidosis; [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of CST3 on chromosome 20p11.21. [-]
Caffey disease	cortical congenital hyperostosis; infantile cortic.. [+] cortical congenital hyperostosis; infantile cortical hyperostosis; [-]	A bone inflammation disease that causes bone chang..[+] A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. [-]
Camurati-Engelmann disease	Diaphyseal dysplasia; Engelman's disease; progress.. [+] Diaphyseal dysplasia; Engelman's disease; progressive diaphyseal dysplasia; [-]	An osteosclerosis that has_material_basis_in mutat..[+] An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. [-]
Canavan disease	CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degen.. [+] CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degeneration of central nervous system; [-]	n_a
Capgras syndrome	Capgras delusion theory;	A delusional disorder in which a person holds a de..[+] A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. [-]
Caplan's syndrome	Caplan syndrome; Caplan's disease; Caplans syndrom.. [+] Caplan syndrome; Caplan's disease; Caplans syndrome; Rheumatoid pneumoconiosis; [-]	A pneumoconiosis that results_in humans that also ..[+] A pneumoconiosis that results_in humans that also have rheumatoid arthritis. [-]
Carey-Fineman-Ziter syndrome		A syndrome characterized by hypotonia, Moebius seq..[+] A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. [-]

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