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Disease	Synonyms	Description	Articles	Phenotypes
neuroectodermal tumor	primitive Neuroectodermal neoplasm	n_a
clear cell acanthoma	Pale (Clear cell) acanthoma; Clear cell acanthoma .. [+] Pale (Clear cell) acanthoma; Clear cell acanthoma (disorder); Clear cell acanthoma (morphologic abnormality); Clear cell acanthoma [-]	n_a
vascular cancer	pulmonary vein malignant neoplasm; pulmonary arter.. [+] pulmonary vein malignant neoplasm; pulmonary artery malignant neoplasm; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumour disorder; Haemangiomatous tumour; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors; Blood vessel tumors (morphologic abnormality); leiomyosarcoma of the renal Vein; Blood vessel tumors; Blood vessel tumor; malignant great vessel tumor; neoplasm of great vessel [-]	A cardiovascular cancer that is located_in blood v..[+] A cardiovascular cancer that is located_in blood vessels. [-]
ossifying fibroma	peripheral ossifying fibroma; Fibro-osteoma	A bone benign neoplasm that is located_in the mout..[+] A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. [-]
calcinosis	Pathologically calcified structure; pathologic cal.. [+] Pathologically calcified structure; pathologic calcification [-]	A calcium metabolism disease that is the result of..[+] A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. [-]
enamel caries	primary dental caries; Dental caries limited to en.. [+] primary dental caries; Dental caries limited to enamel; simple dental cavity [-]	n_a
lateral sclerosis	primary lateral sclerosis; adult-onset primary lat.. [+] primary lateral sclerosis; adult-onset primary lateral sclerosis [-]	A motor neuron disease characterized by painless b..[+] A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. [-]
chorioangioma	Placental hemangioma	n_a
olfactory neuroblastoma	paranasal sinus Olfactory neuroblastoma; Asthesion.. [+] paranasal sinus Olfactory neuroblastoma; Asthesioneuroblastoma (morphologic abnormality); Esthesioneuroepithelioma (morphologic abnormality); Esthesioneuroepithelioma [dup] (morphologic abnormality); Olfactory Esthesioneuroblastoma; Esthesioneuroblastoma (morphologic abnormality); Esthesioneuroepithelioma; Asthesioneuroblastoma; Esthesioneuroblastoma [-]	n_a
malignant olfactory nerve neoplasm	primary malignant neoplasm of olfactory nerve; mal.. [+] primary malignant neoplasm of olfactory nerve; malignant tumor of Olfactory nerve; malignant olfactory nerve tumor [-]	n_a
external ear disease	Preauricular sinus and fistula; Preauricular cyst; .. [+] Preauricular cyst; Preauricular sinus and fistula; Preauricular cyst (disorder); Preauricular sinus or fistula NOS (disorder); Preauricular sinus or fistula; Preauricular sinus and fistula (disorder) [-]	An auditory system disease that is located_in the ..[+] An auditory system disease that is located_in the external ear. [-]
restrictive cardiomyopathy	primary restrictive cardiomyopathy; primary restri.. [+] primary restrictive cardiomyopathy; primary restrictive cardiomyopathy (disorder); Cardiomyopathy, constrictive; Restrictive cardiomyopathy (disorder); Familial restrictive cardiomyopathy; Restrictive cardiomyopathy [-]	An intrinsic cardiomyopathy characterized by impai..[+] An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. [-]
systemic scleroderma	PSS (progressive systemic sclerosis); progressive .. [+] PSS (progressive systemic sclerosis); progressive systemic sclerosis; Scleroderma; systemic sclerosis; Scleroderma (& [systemic sclerosis]); Scleroderma syndrome [-]	A scleroderma that is characterized by fibrosis (o..[+] A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. [-]
hemangioma of lung	pulmonary hemangioma	n_a
jaw-winking syndrome	Pterygoid-levator synkinesis; Jaw-blinking; Marcus.. [+] Pterygoid-levator synkinesis; Jaw-blinking; Marcus-Gunn syndrome; abnormal innervation syndrome of eyelid [-]	A cranial nerve disease characterized by unilatera..[+] A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. [-]
nerve compression syndrome	peripheral nerve entrapment syndrome; Compression .. [+] peripheral nerve entrapment syndrome; Compression neuropathy; Entrapment Neuropathy; entrapment neuropathy [-]	n_a
cleft palate	Palatoschisis; cleft velum; Uranostaphyloschisis (.. [+] Palatoschisis; cleft velum; Uranostaphyloschisis (disorder) [-]	An orofacial cleft characterized by a fissure of t..[+] An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. [-]	11 articles
juvenile rheumatoid arthritis	Pauciarticular onset juvenile chronic arthritis; p.. [+] Pauciarticular onset juvenile chronic arthritis; pauciarticular juvenile arthritis; acute juvenile rheumatoid arthritis; monarticular juvenile rheumatoid arthritis; juvenile idiopathic arthritis; systemic juvenile rheumatoid arthritis; Still's disease; juvenile chronic polyarthritis [-]	A rheumatoid arthritis that involves an autoimmune..[+] A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. [-]
motor neuritis	peripheral motor neuropathy; peripheral motor neur.. [+] peripheral motor neuropathy; peripheral motor neuropathy (disorder); peripheral motor Neuropathy [-]	n_a
intraocular lymphoma	primary intraocular lymphoma	n_a
neuropathy	peripheral neuropathy	A nervous system disease that is located_in nerves..[+] A nervous system disease that is located_in nerves or nerve cells. [-]	28 articles
anaerobic pneumonia	pneumonia due to anaerobes	An aspiration pneumonia caused by anaerobic bacter..[+] An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. [-]
bacterial pneumonia	Pneumonia due to other gram-negative bacteria; gra.. [+] Pneumonia due to other gram-negative bacteria; gram-negative pneumonia [-]	A pneumonia involving inflammation of the lungs ca..[+] A pneumonia involving inflammation of the lungs caused by bacteria. [-]
autosomal dominant polycystic kidney disease	POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; Congenita.. [+] POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; Congenital biliary ectasias; ADPKD [-]	A polycystic kidney disease characterized by the p..[+] A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. [-]	11 articles
Zellweger syndrome	peroxisome biogenesis disorder; congenital iron ov.. [+] peroxisome biogenesis disorder; congenital iron overload; cerebrohepatorenal syndrome [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. [-]
open-angle glaucoma	pigmentary glaucoma; glaucoma simplex; open angle .. [+] pigmentary glaucoma; glaucoma simplex; open angle glaucoma; Wide-angle glaucoma [-]	A glaucoma characterized by optic nerve damage res..[+] A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. [-]
chondrocalcinosis	pseudogout; calcium pyrophosphate deposition disea.. [+] pseudogout; calcium pyrophosphate deposition disease [-]	An arthritis that has_material_basis_in the accumu..[+] An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. [-]
tibial neuropathy	Posterior tibial neuropathy; Posterior tibial neur.. [+] Posterior tibial neuropathy; Posterior tibial neuropathy (disorder); Tibial neuropathy (disorder); Tibial neuropathy (disorder) [Ambiguous]; Tibial neuropathy [-]	n_a
blood coagulation disease	postpartum coagulation defect with delivery; postp.. [+] postpartum coagulation defect with delivery; postpartum coagulation defect; inherited blood coagulation disease; coagulation protein disease [-]	A hematopoietic system disease that is characteriz..[+] A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. [-]
brain cancer	primary malignant neoplasm of brain; primary brain.. [+] primary malignant neoplasm of brain; primary brain tumor; primary malignant neoplasm of brain (disorder); primary brain neoplasm; brain neoplasm; malignant brain tumour; malignant primary brain neoplasm; malignant primary brain tumor; neoplasm of brain (disorder); neoplasm of unspecified nature of brain; neoplasm of unspecified nature of brain (disorder); tumor of the Brain; brain neoplasm, adult; adult brain tumor; BT - Brain tumour; malignant tumor of Brain; neoplasm of brain; adult malignant brain neoplasm; malignant tumor of adult brain [-]	A central nervous system cancer that is characteri..[+] A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. [-]	9 articles	18 matches
endometrial cancer	primary malignant neoplasm of endometrium; endomet.. [+] primary malignant neoplasm of endometrium; endometrial Ca; endometrial neoplasm; malignant neoplasm of endometrium; neoplasm of endometrium (disorder); tumor of Endometrium; neoplasm of endometrium; malignant endometrial neoplasm [-]	A uterine cancer that is located_in tissues lining..[+] A uterine cancer that is located_in tissues lining the uterus. [-]	1 articles
geographic tongue	Pityriasis linguae; benign migratory glossitis; Gl.. [+] Pityriasis linguae; benign migratory glossitis; Glossitis areata exfoliativa [-]	An atrophic glossitis that is characterized as an ..[+] An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. [-]
cholesterol embolism	purple toe syndrome; cholesterol crystal embolism; .. [+] purple toe syndrome; cholesterol crystal embolism; trash foot; warfarin blue toe syndrome; atheroembolism [-]	A vascular disease that is characterized by blood ..[+] A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. [-]
echinococcosis	pulmonary echinococcosis; Echinococcosis, unspecif.. [+] pulmonary echinococcosis; Echinococcosis, unspecified, of liver (disorder); Liver echinococcus unspecified (disorder); Echinococcosis of liver (disorder); Echinococcosis, unspecified, of liver; hepatic echinococcosis; hydatid disease; echinococcal disease; Echinococcosis of liver; hydatidosis; liver echinococcus [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. [-]
breast cancer	primary breast cancer; malignant neoplasm of breas.. [+] primary breast cancer; malignant neoplasm of breast; malignant tumor of the breast; mammary neoplasm; mammary cancer; mammary tumor; breast tumor [-]	A thoracic cancer that originates in the mammary g..[+] A thoracic cancer that originates in the mammary gland. [-]	13 articles
breast duct papilloma	papilloma of the breast; duct papilloma of breast .. [+] papilloma of the breast; duct papilloma of breast (disorder); duct papilloma of breast [-]	An intraductal papillary breast neoplasm that is h..[+] An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. [-]
benign breast phyllodes tumor	Phyllodes neoplasm; Phyllodes tumor, benign; Phyll.. [+] Phyllodes tumor, benign; Phyllodes neoplasm; Phyllodes tumor, benign (morphologic abnormality); benign cystosarcoma phyllodes; benign Phyllodes neoplasm; benign Phyllodes neoplasm of the breast; Cystosarcoma phyllodes NOS (morphologic abnormality); Cystosarcoma phyllodes, NOS; Cystosarcoma phyllodes [-]	A breast benign neoplasm that has_material_basis_i..[+] A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. [-]
malignant pineal area germ cell neoplasm	Pineal germ cell tumor; pineal germ cell tumor; Pi.. [+] pineal germ cell tumor; Pineal germ cell tumor; Pineal Region germ cell tumor; Pineal germ cell tumor (disorder); malignant Pineal Parenchymal germ cell tumor [-]	n_a
facial hemiatrophy	PARRY-ROMBERG SYNDROME	n_a
malignant exocrine pancreas neoplasm	pancreatic Exocrine tumour; pancreatic Exocrine tu.. [+] pancreatic Exocrine tumour; pancreatic Exocrine tumor; malignant tumor of exocrine pancreas (disorder); tumor of exocrine pancreas (disorder); malignant neoplasm of the Exocrine pancreas; malignant tumor of exocrine pancreas; malignant tumour of exocrine pancreas; tumour of exocrine pancreas [-]	A pancreatic cancer that arises from the epithelia..[+] A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue. [-]	1 articles
islet cell tumor	pancreatic Endocrine neoplasm; Islet cell neoplasm.. [+] pancreatic Endocrine neoplasm; Islet cell neoplasm; Islet cell tumor; malignant pancreatic Endocrine tumor; malignant tumor of endocrine pancreas (disorder); Islet cell tumour; endocrine pancreas cancer; islet cell tumour; malignant pancreatic Endocrine tumour; malignant tumour of endocrine pancreas; malignant tumor of endocrine pancreas [-]	A pancreatic cancer that is located_in the pancrea..[+] A pancreatic cancer that is located_in the pancreatic islet cells. [-]
neuritis	peripheral neuritis	n_a	1 articles
childhood absence epilepsy	petit mal seizure; pyknolepsy; absence seizure	A childhood electroclinical syndrome that is chara..[+] A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. [-]	1 articles
McCune Albright syndrome	polyostotic fibrous dysplasia; fibrous Dysplasia o.. [+] polyostotic fibrous dysplasia; fibrous Dysplasia of bone; fibrous dysplasia of bone (disorder); osteitis fibrosa disseminata; fibrous dysplasia of bone [-]	A syndrome that is characterized by polyostotic fi..[+] A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. [-]
Angelman syndrome	puppetlike syndrome; happy puppet syndrome	A syndrome that is characterized by delayed develo..[+] A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. [-]
Rubinstein-Taybi syndrome	proximal chromosome 16p13.3 deletion syndrome; Bro.. [+] proximal chromosome 16p13.3 deletion syndrome; Broad Thumb-Hallux syndrome; Rubinstein syndrome [-]	A syndrome characterized by short stature, moderat..[+] A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. [-]
intestinal perforation	Perforation of intestine	n_a
vulval Paget's disease	Paget's disease of vulva; Paget's disease of vulva.. [+] Paget's disease of vulva; Paget's disease of vulva (disorder); vulval Paget disease; Vulval Paget's disease (disorder); Vulvar Paget's disease [-]	A vulva adenocarcinoma that is characterized by di..[+] A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features. [-]
factor V deficiency	Proaccelerin deficiency; deficiency, labile; Hered.. [+] Proaccelerin deficiency; deficiency, labile; Hereditary hypoproaccelerinaemia; Labile factor deficiency [-]	n_a
blood platelet disease	platelet disorder; Thrombocytopathy	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. [-]

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