Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 ???pagination.result.next???

Disease	Synonyms	Description	Articles	Phenotypes
brain glioma	lower grade glioma	A brain cancer that has_material_basis_in glial ce..[+] A brain cancer that has_material_basis_in glial cells. [-]	1 articles
body dysmorphic disorder	body dysmorphia; dysmorphophobia; dysmorphic syndr.. [+] body dysmorphia; dysmorphophobia; dysmorphic syndrome [-]	A somatoform disorder that involves an excessive c..[+] A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). [-]
bipolar ll disorder		A bipolar disorder that is characterized by at lea..[+] A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. [-]
benign familial infantile epilepsy	benign familial infantile seizures; BFIE; BFIC; be.. [+] BFIC; BFIE; benign familial infantile seizures; benign familial infantile convulsion [-]	An infancy electroclinical syndrome that is charac..[+] An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. [-]
Balo concentric sclerosis	Balo's concentric sclerosis; Balo disease; Tumefac.. [+] Balo disease; Balo's concentric sclerosis; Tumefactive multiple sclerosis [-]	A multiple sclerosis that is characterized by conc..[+] A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. [-]
Baraitser-Winter syndrome		A syndrome characterized by distinctive facial fea..[+] A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. [-]
basal ganglia calcification	Fahr disease	A basal ganglia disease characterized by the prese..[+] A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. [-]
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. [-]
branchiootic syndrome	branchiootic dysplasia; BOR; BO syndrome	A syndrome characterized by malformations of the o..[+] A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. [-]	4 articles	26 matches
blepharophimosis-intellectual disability syndrome, SBBYS type	Say-Barber-Biesecker-Young-Simpson syndrome; SBBYS.. [+] Say-Barber-Biesecker-Young-Simpson syndrome; SBBYSS; Ohdo syndrome, SBBYS Variant [-]	A Ohdo syndrome that is characterized by blepharop..[+] A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability. [-]
breast abscess		A breast disease characterized by a collection of ..[+] A breast disease characterized by a collection of pus in the breast. [-]
bacillary angiomatosis		A bartonellosis that has_material_basis_in Bartone..[+] A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. [-]
beta-lactam allergy		A drug allergy triggered by a beta-lactam.
brown shrimp allergy	Farfantepenaeus aztecus allergy	A crustacean allergy triggered by Farfantepenaeus ..[+] A crustacean allergy triggered by Farfantepenaeus aztecus. [-]
Barber-Say syndrome		A syndrome characterized by d by the association o..[+] A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
B-cell adult acute lymphocytic leukemia	B-cell adult acute lymphocytic leukaemia; adult B .. [+] B-cell adult acute lymphocytic leukaemia; adult B acute lymphoblastic leukemia; adult b-cell acute lymphoblastic leukemia; adult B-lymphoblastic leukemia; adult B acute lymphoblastic leukaemia; adult b-cell acute lymphoblastic leukaemia; adult b-cell lymphocytic leukaemia; adult B-lymphoblastic leukaemia; adult b-cell lymphocytic leukemia [-]	An adult acute lymphoblastic leukemia occurring in..[+] An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. [-]
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. [-]
basal laminar drusen	cuticular drusen; drusen of bruch membrane; early .. [+] cuticular drusen; drusen of bruch membrane; early adult-onset grouped drusen [-]	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. [-]
bullous congenital ichthyosiform erythroderma	bullous type ichthyosis; superficial epidermolytic.. [+] bullous type ichthyosis; superficial epidermolytic ichthyosis; ichthyosis bullosa of Siemens [-]	An ichthyosis characterized by congenital erythema..[+] An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. [-]
blastoma		A cell type cancer that has_material_basis_in abno..[+] A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. [-]
benign recurrent intrahepatic cholestasis	BRIC; Summerskill-Walshe-Tygstrup syndrome	An intrahepatic cholestasis characterized by inter..[+] An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. [-]
benign recurrent intrahepatic cholestasis 1	BRIC1; BRIC type 1; Summerskill syndrome	A benign recurrent intrahepatic cholestasis charac..[+] A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. [-]
benign recurrent intrahepatic cholestasis 2	BRIC2; BRIC type 2	A benign recurrent intrahepatic cholestasis charac..[+] A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. [-]
bradyopsia 1	prolonged electroretinal response suppression 1	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. [-]
bradyopsia 2	prolonged electroretinal response suppression 2	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. [-]
brachycephaly, trichomegaly, and developmental delay	BTDD; Macinnes syndrome; MCINS	A syndrome characterized by brachycephaly, trichom..[+] A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. [-]
Borrelia miyamotoi disease	BMD; hard tick-borne relapsing fever	A primary bacterial infectious disease that has_ma..[+] A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. [-]
bone disease	skeletal disease	A connective tissue disease that affects the struc..[+] A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. [-]	56 articles	40 matches
bone remodeling disease		A bone disease that results_in formation or resorp..[+] A bone disease that results_in formation or resorption abnormalities located_in bone. [-]	9 articles
bone development disease		A bone disease that results_in abnormal growth and..[+] A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. [-]	23 articles	9 matches
bone deterioration disease		A bone structure disease that results_in change or..[+] A bone structure disease that results_in change or damage of structure located_in bone. [-]
bone structure disease		A bone disease that has_material_basis_in an abnor..[+] A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. [-]	5 articles	23 matches
bone resorption disease		A bone remodeling disease that results in an abnor..[+] A bone remodeling disease that results in an abnormal decrease of bone density or mass. [-]	1 articles
bladder exstrophy-epispadias-cloacal exstrophy complex	exstrophy-epispadias complex	A physical disorder that is characterized as a spe..[+] A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. [-]	1 articles
bladder exstrophy		A bladder exstrophy-epispadias-cloacal exstrophy c..[+] A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. [-]	1 articles
bilateral renal aplasia		A renal agenesis that is characterized by the abse..[+] A renal agenesis that is characterized by the absence of both kidneys at birth. [-]
bicuspid aortic valve disease	Familial bicuspid aortic valve	An aortic valve disease that is characterized by t..[+] An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. [-]
blepharocheilodontic syndrome	Blepharo-cheilo-odontic syndrome	A syndrome that is characterized by lower eyelid e..[+] A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. [-]
benign teratoma		A germ cell benign neoplasm that derives_from matu..[+] A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. [-]
B-lymphoblastic leukemia/lymphoma	B lymphoblastic leukemia/lymphoma; B-ALL; precurso.. [+] B-ALL; B lymphoblastic leukemia/lymphoma; precursor B lymphoblastic lymphoma/leukemia [-]	A B-cell acute lymphoblastic leukemia that is char..[+] A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. [-]
B-cell acute lymphoblastic leukemia	B-cell acute lymphocytic leukemia; B acute lymphob.. [+] B-cell acute lymphocytic leukemia; B acute lymphoblastic leukemia [-]	An acute lymphocytic leukemia characterized by too..[+] An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. [-]
bone sarcoma		A bone cancer that has_material_basis_in abnormall..[+] A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. [-]
B-lymphoblastic leukemia/lymphoma with BCR-ABL1	BCR-ABL1; B-lymphoblastic leukemia/lymphoma with t.. [+] BCR-ABL1; B-lymphoblastic leukemia/lymphoma with t(9; B-ALL with BCR-ABL1; 22)(q34.1; q11.2) [-]	A B-lymphoblastic leukemia/lymphoma that derives_f..[+] A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. [-]
B-lymphoblastic leukemia/lymphoma KMT2A rearranged	B-lymphoblastic leukemia/lymphoma with t(v; B-ALL .. [+] B-lymphoblastic leukemia/lymphoma with t(v; B-ALL KMT2A rearranged; 11q23.3); KMT2A rearranged [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. [-]
B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1	B-lymphoblastic leukemia/lymphoma with t(12; B-ALL.. [+] B-lymphoblastic leukemia/lymphoma with t(12; B-ALL with ETV6-RUNX1; 21)(p13.2; q22.1); ETV6-RUNX1 [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. [-]
B-lymphoblastic leukemia/lymphoma with hyperdiploidy	B-ALL with hyperdiploidy	A B-lymphoblastic leukemia/lymphoma that is compos..[+] A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. [-]
B-lymphoblastic leukemia/lymphoma with hypodiploidy	B-ALL with hypodiploidy	A B-lymphoblastic leukemia/lymphoma that is compos..[+] A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. [-]
B-lymphoblastic leukemia/lymphoma with IL3-IGH	B-lymphoblastic leukemia/lymphoma with t(5; B-ALL .. [+] B-lymphoblastic leukemia/lymphoma with t(5; B-ALL with IL3-IGH; 14)(q31.1; q32.3) IL3-IGH [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). [-]
B-lymphoblastic leukemia/lymphoma with TCF3-PBX1	B-lymphoblastic leukemia/lymphoma with t(1; B-ALL .. [+] B-lymphoblastic leukemia/lymphoma with t(1; B-ALL with TCF3-PBX1; B Acute Lymphoblastic Leukemia with t(1; 19)(q23; p13.3); E2A-PBX1 (TCF3-PBX1); 19)(q23; p13.3); TCF3-PBX1 [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. [-]
B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like	B lymphoblastic leukemia/lymphoma, BCR-ABL1-like; .. [+] B lymphoblastic leukemia/lymphoma, BCR-ABL1-like; B-ALL BCR-ABL1–like [-]	A B-lymphoblastic leukemia/lymphoma that has a gen..[+] A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion. [-]

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 ???pagination.result.next???