Echinobase

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Disease	Synonyms	Description
bestrophinopathy	autosomal recessive bestrophinopathy;	n_a
beta thalassemia		A thalassemia characterized by the reduced or abse..[+] A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. [-]
beta-ketothiolase deficiency	2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase .. [+] 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; Mitochondrial acetoacetyl-CoA Thiolase deficiency; peroxisomal thiolase deficiency (disorder); peroxisomal thiolase deficiency; [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. [-]
beta-lactam allergy		A drug allergy triggered by a beta-lactam.
beta-mannosidosis	Beta-D-mannosidosis (disorder); beta-mannosidase d.. [+] Beta-D-mannosidosis (disorder); beta-mannosidase deficiency; lysosomal beta-mannosidase deficiency; Beta-D-mannosidosis; [-]	A lysosomal storage disease that has_material_basi..[+] A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. [-]
bicipital tenosynovitis		n_a
bilateral breast cancer	Bilateral breast carcinoma;	A breast carcinoma that is characterized by an ind..[+] A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. [-]
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 hyperactive labyrinth	Bilateral hyperactive labyrinth (disorder); hypera.. [+] Bilateral hyperactive labyrinth (disorder); hyperactive bilateral labyrinthine dysfunction (disorder); hyperactive labyrinth, bilateral; [-]	n_a
bilateral hypoactive labyrinth	Bilateral hypoactive labyrinth (disorder); Hypoact.. [+] Bilateral hypoactive labyrinth (disorder); Hypoactive bilateral labyrinthine dysfunction (disorder); Hypoactive labyrinth, bilateral; [-]	n_a
bilateral meningioma of optic nerve	Bilateral meningioma of the optic nerve;	n_a
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. [-]
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. [-]
bilateral retinoblastoma		A retinoblastoma that develops in both eyes.
bile duct adenocarcinoma		A bile duct carcinoma that derives_from epithelial..[+] A bile duct carcinoma that derives_from epithelial cells of glandular origin. [-]
bile duct adenoma	bile duct adenoma (morphologic abnormality); Chola.. [+] bile duct adenoma (morphologic abnormality); Cholangioadenoma; [-]	An adenoma and biliary tract cancer that results_i..[+] An adenoma and biliary tract cancer that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. [-]
bile duct cancer	bile duct tumor; Ca extrahepatic bile ducts; malig.. [+] bile duct tumor; Ca extrahepatic bile ducts; malignant neoplasm of the extrahepatic bile duct; [-]	A biliary tract cancer that is located_in the bile..[+] A biliary tract cancer that is located_in the bile duct. [-]
bile duct carcinoma		A bile duct cancer that has_material_basis_in abno..[+] A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [-]
bile duct carcinoma in situ		n_a
bile duct clear cell adenocarcinoma	bile duct clear cell carcinoma;	n_a
bile duct cystadenocarcinoma	bile duct cystadenocarcinoma (morphologic abnormal.. [+] bile duct cystadenocarcinoma (morphologic abnormality); biliary cystadenocarcinoma; [-]	n_a
bile duct cystadenoma	bile duct cystadenoma (morphologic abnormality); C.. [+] bile duct cystadenoma (morphologic abnormality); Cystadenoma of the bile duct; [-]	A biliary tract benign neoplasm that is located_in..[+] A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells. [-]
bile duct disease	bile duct disorder NOS (disorder); disorder of bil.. [+] bile duct disorder NOS (disorder); disorder of bile duct (disorder); [-]	n_a
bile duct mucinous adenocarcinoma	mucinous carcinoma of the bile duct;	n_a
bile duct mucoepidermoid carcinoma	Mucoepidermoid carcinoma of the bile duct;	n_a
bile duct rhabdomyosarcoma	rhabdomyosarcoma of the bile duct;	A rhabdomyosarcoma and sarcoma of bile duct that i..[+] A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. [-]
bile duct sarcoma	sarcoma of the bile duct;	A sarcoma and malignant tumor of extrahepatic bile..[+] A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. [-]
bile duct signet ring cell carcinoma	bile duct Signet Ring cell carcinoma;	n_a
bile reflux		n_a
biliary atresia	Atresia of bile duct; biliary atresia, congenital;.. [+] Atresia of bile duct; biliary atresia, congenital; Congenital biliary atresia (disorder); [-]	A cholestasis characterized by blockage of the duc..[+] A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. [-]
biliary dyskinesia	sphincter of oddi dysfunction;	A gallbladder disease characterized by altered ton..[+] A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. [-]
biliary papillomatosis	bile duct papillomatosis;	A biliary tract neoplasm characterized by multiple..[+] A biliary tract neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. [-]
biliary tract benign neoplasm	extrahepatic bile duct neoplasm; neoplasm of extra.. [+] extrahepatic bile duct neoplasm; neoplasm of extrahepatic bile ducts (disorder); tumor of the extrahepatic bile duct; neoplasm of extrahepatic bile ducts; [-]	A hepatobiliary benign neoplasm located_in the bil..[+] A hepatobiliary benign neoplasm located_in the biliary tract. [-]
biliary tract cancer	malignant tumour of biliary tract;	A gastrointestinal system cancer that results_in m..[+] A gastrointestinal system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. [-]
biliary tract disease		A hepatobiliary disease that is located_in the bil..[+] A hepatobiliary disease that is located_in the biliary tract. [-]
biliary tract intraductal papillary mucinous neoplasm		n_a
bilirubin metabolic disorder	hereditary hyperbilirubinemia; hyperbilirubinaemia.. [+] hereditary hyperbilirubinemia; hyperbilirubinaemia; hyperbilirubinemia; [-]	An inherited metabolic disorder that involves elev..[+] An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. [-]
binocular vision disease	simultaneous visual perception without fusion;	n_a
biotin deficiency	B7 deficiency;	A nutritional deficiency disease that is character..[+] A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. [-]
biotin-responsive basal ganglia disease		n_a
biotinidase deficiency	BTD deficiency ; deficiency of biotinidase (disord.. [+] BTD deficiency ; deficiency of biotinidase (disorder); Juvenile-onset multiple carboxylase deficiency ; Late-onset multiple carboxylase deficiency; deficiency of biotinidase; [-]	A multiple carboxylase deficiency that involves a ..[+] A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. [-]
biphasic synovial sarcoma	Biphasic sarcoma of Synovium; Synovial sarcoma, bi.. [+] Biphasic sarcoma of Synovium; Synovial sarcoma, biphasic (morphologic abnormality); [-]	n_a
bipolar I disorder		A bipolar disorder that is characterized by at lea..[+] A bipolar disorder that is characterized by at least one manic or mixed episode. [-]
bipolar disorder	bipolar depression; bipolar disorder manic phase; .. [+] bipolar depression; bipolar disorder manic phase; Depressive-manic psych.; Manic Bipolar Affective disorder; Manic bipolar I disorder; manic depression; Manic Depressive disorder; manic disorder; mixed bipolar disorder; [-]	A mood disorder that involves alternating periods ..[+] A mood disorder that involves alternating periods of mania and depression. [-]
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. [-]
bird fancier's lung	Avian hypersensitivity Pneumonitis; bird breeder's.. [+] Avian hypersensitivity Pneumonitis; bird breeder's lung; bird fancier lung; Bird-fancier's lung; Bird-fanciers' lung; pigeon breeder's lung; poultry worker's lung; [-]	An extrinsic allergic alveolitis which is caused b..[+] An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. [-]
birdshot chorioretinopathy	birdshot chorioretinitis; birdshot retinochoroidit.. [+] birdshot chorioretinitis; birdshot retinochoroiditis; birdshot retinochoroidopathy; BSCR; vitiliginous choroiditis; [-]	A posterior uveitis characterized by multiple smal..[+] A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. [-]
bizarre leiomyoma	Atypical leiomyoma; Pleomorphic leiomyoma; Symplas.. [+] Atypical leiomyoma; Pleomorphic leiomyoma; Symplastic leiomyoma; [-]	n_a
black piedra		A superficial mycosis that is a superficial fungal..[+] A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. [-]
blackwater fever	Black water fever (disorder); Blackwater fever; He.. [+] Black water fever (disorder); Blackwater fever; Hemoglobinuric, malaria; Malarial Hemoglobinuria; [-]	A malaria that presents as a rare febrile complica..[+] A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. [-]

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