Echinobase

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 ???pagination.result.next???

Disease	Synonyms	Description
benign neoplasm		A disease of cellular proliferation that results i..[+] A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. [-]
breast benign neoplasm		A thoracic benign neoplasm that is characterized b..[+] A thoracic benign neoplasm that is characterized by lack of malignancy. [-]
bone benign neoplasm		A connective tissue benign neoplasm that is locate..[+] A connective tissue benign neoplasm that is located_in bone. [-]
benign glioma		A cell type benign neoplasm that has_material_basi..[+] A cell type benign neoplasm that has_material_basis_in glial cells. [-]
brain meningioma		A brain cancer that is characterized by tumor of t..[+] A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. [-]
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. [-]
body dysmorphic disorder	body dysmorphia; dysmorphic syndrome; dysmorphopho.. [+] body dysmorphia; dysmorphic syndrome; dysmorphophobia [-]	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; BFIC; BFIE; be.. [+] BFIE; BFIC; benign familial infantile seizures; benign familial infantile convulsion [-]	An infancy electroclinical syndrome that is charac..[+] An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months. [-]
Balo concentric sclerosis	Balo's concentric sclerosis	A demyelinating disease characterized by the fact ..[+] A demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers. [-]
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. [-]
blepharophimosis-intellectual disability syndrome, SBBYS type	Ohdo syndrome, SBBYS Variant; Say-Barber-Biesecker.. [+] Ohdo syndrome, SBBYS Variant; Say-Barber-Biesecker-Young-Simpson syndrome; SBBYSS [-]	n_a
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	adult B acute lymphoblastic leukemia; adult b-cell.. [+] adult B acute lymphoblastic leukemia; adult b-cell acute lymphoblastic leukemia; adult b-cell lymphocytic leukemia; adult B-lymphoblastic leukemia [-]	n_a
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. [-]
Brooks-Wisniewski-Brown syndrome	X-linked intellectual disability, Brooks type	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has_material_basis_in variation on the X chromosome. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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. [-]
B-cell childhood acute lymphoblastic leukemia		A childhood acute lymphoblastic leukemia that has_..[+] A childhood acute lymphoblastic leukemia that has_material_basis in B-cells. [-]
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. [-]
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. [-]
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. [-]
bronchiectasis 2		A bronchiectasis that has_material_basis_in mutati..[+] A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. [-]
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-lymphoblastic leukemia/lymphoma MLL rearranged	B-lymphoblastic leukemia/lymphoma with t(v; B-lymp.. [+] B-lymphoblastic leukemia/lymphoma with t(v; B-lymphoblastic leukemia/lymphoma KMT2A rearranged; B-ALL KMT2A rearranged; B lymphoblastic leukemia/lymphoma with t(v; 11q23); MLL 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 iAMP21	B-ALL with iAMP21; Intrachromosomal amplification .. [+] B-ALL with iAMP21; Intrachromosomal amplification of chromosome 21 (iAMP21) [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. [-]
BASAN syndrome		An ectodermal dysplasia that is characterized by n..[+] An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. [-]
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. [-]
bilateral generalized polymicrogyria		A polymicrogyria that is characterized severe inte..[+] A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. [-]
bilateral perisylvian polymicrogyria		A polymicrogyria that is characterized by striking..[+] A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. [-]
Bardet-Biedl syndrome 21		A Bardet-Biedl syndrome that is characterized by o..[+] A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. [-]
blastic plasmacytoid dendritic cell neoplasm	Blastic NK-Cell Lymphoma; Blastic Natural Killer L.. [+] Blastic NK-Cell Lymphoma; Blastic Natural Killer Leukemia/Lymphoma; Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor; Agranular CD4+ Natural Killer Cell Leukemia; CD4+/CD56+ Hematodermic Neoplasm; natural killer (NK) cell leukemia/lymphoma [-]	An acute leukemia that is derived from the precurs..[+] An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. [-]
Baraitser-Winter syndrome 2		A Baraitser-Winter syndrome that has_material_basi..[+] A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. [-]
benign familial infantile seizures 5	Benign Familial Infantile Seizures, 5	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy 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 and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. [-]

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