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Disease	Synonyms	Description	Articles	Phenotypes
breast adenoma	Ademoma - breast	A breast benign neoplasm that is has_material_basi..[+] A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. [-]
breast adenomyoepithelioma	adenomyoepithelioma of the breast; breast Adenomyo.. [+] adenomyoepithelioma of the breast; breast Adenomyoepithelioma with malignant Change; malignant adenomyoepithelioma of breast [-]	A breast myoepithelial neoplasm that affects the b..[+] A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. [-]
Behcet's syndrome arthropathy	Arthropathy in Behcet's syndrome involving upper a.. [+] Arthropathy in Behcet's syndrome involving upper arm; Arthropathy in Behcet's syndrome involving lower leg; Arthropathy in Behcet's syndrome involving pelvic region and thigh; Arthropathy in Behcet's syndrome involving ankle and foot; Arthropathy in Behcet's syndrome involving shoulder region; Arthropathy in Behcet's syndrome involving multiple sites; Arthropathy in Behcet's syndrome involving hand; Arthropathy in Behcet's syndrome involving forearm; Behcet syndrome arthropathy [-]	n_a
peritoneal mesothelioma	advanced malignant peritoneal mesothelioma; Advanc.. [+] advanced malignant peritoneal mesothelioma; Advanced malignant Mesothelioma of Peritoneum; malignant mesothelioma of peritoneum [-]	A peritoneum cancer that develops from cells of th..[+] A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. [-]
malignant mesothelioma	asbestos-related malignant mesothelioma; advanced .. [+] asbestos-related malignant mesothelioma; advanced malignant mesothelioma; malignant tumor of Mesothelium; Diffuse malignant Mesothelioma [-]	A cell type cancer that has_material_basis_in meso..[+] A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. [-]
childhood absence epilepsy	absence seizure; pyknolepsy; petit mal 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
viral hepatitis	animal viral hepatitis; human viral hepatitis; Uns.. [+] animal viral hepatitis; human viral hepatitis; Unspecified viral hepatitis with hepatic coma; viral hepatitis with hepatic coma; Viral hepatitis with hepatic coma (disorder); Viral hepatitis with hepatic coma [-]	A hepatitis that involves viral infection causing ..[+] A hepatitis that involves viral infection causing inflammation of the liver. [-]
Gaucher's disease	acid beta-glucosidase deficiency; glocucerebrosida.. [+] acid beta-glucosidase deficiency; glocucerebrosidase deficiency; kerasin thesaurismosis; lipoid histiocytosis (kerasin type); glucosylceramide beta-glucosidase deficiency; Gaucher disease [-]	A sphingolipidosis characterized by deficiency of ..[+] A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. [-]
cholecystitis	acute cholecystitis; acute cholecystitis NOS (diso.. [+] acute cholecystitis; acute cholecystitis NOS (disorder); acute on chronic cholecystitis; acute cholecystitis unspecified (disorder); acute cholecystitis (disorder); acute and chronic cholecystitis (disorder); acute and chronic cholecystitis; chronic cholecystitis; chronic cholecystitis (disorder) [-]	A cholangitis that is characterized by an inflamma..[+] A cholangitis that is characterized by an inflammation that is located in the gallbladder. [-]
rectum adenocarcinoma	adenocarcinoma of rectum; adenocarcinoma of rectum.. [+] adenocarcinoma of rectum; adenocarcinoma of rectum (disorder); Rectal adenocarcinoma [-]	A rectum cancer that derives_from epithelial cells..[+] A rectum cancer that derives_from epithelial cells of glandular origin. [-]
minor vestibular glands adenoma	adenoma of minor vestibular glands	A vestibular gland benign neoplasm that is located..[+] A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. [-]
vulva adenocarcinoma	adenocarcinoma of Vulva; adenocarcinoma of the vul.. [+] adenocarcinoma of Vulva; adenocarcinoma of the vulva [-]	A vulva carcinoma that derives_from epithelial cel..[+] A vulva carcinoma that derives_from epithelial cells of glandular origin. [-]
nephroblastoma	adult renal Wilms' tumor; adult nephroblastoma; ch.. [+] adult nephroblastoma; adult renal Wilms' tumor; childhood renal Wilms tumor; childhood renal Wilms' cancer; renal Wilms tumor; Wilms' tumor [-]	A kidney cancer that affects the kidneys and typic..[+] A kidney cancer that affects the kidneys and typically located_in children. [-]
hepatitis	animal hepatitis; acute hepatitis; acute/subac. ne.. [+] acute hepatitis; animal hepatitis; acute/subac. necrosis of liver; acute and subacute liver necrosis; chronic hepatitis; chronic persistent hepatitis [-]	n_a
pharyngitis	acute sore throat; acute pharyngitis; chronic phar.. [+] acute pharyngitis; acute sore throat; chronic pharyn/nasopharyngitis; chronic pharyngitis; chronic pharyngitis and nasopharyngitis; Inflamed throat; Persistent sore throat; Pharyngeal disorder; Pharyngitis - acute; Sore throat - chronic; chronic sore throat; pharyngeal disease [-]	An upper respiratory tract disease involving infla..[+] An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. [-]
hidradenitis suppurativa	Acne inversa, familial; Hidradenitis suppurativa; .. [+] Acne inversa, familial; Hidradenitis suppurativa; Hidradenitis suppurativa (disorder) [-]	A hidradenitis that is characterized by chronic in..[+] A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. [-]
malt worker's lung	alveolitis due to aspergillus clavatus; malt worke.. [+] alveolitis due to aspergillus clavatus; malt worker lung; Malt-workers' lung; Malt workers' lung [-]	An extrinsic allergic alveolitis which is caused b..[+] An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. [-]
myelophthisic anemia	Anemia, leukoerythroblastic; ANEMIA LEUKOERYTHROBL.. [+] Anemia, leukoerythroblastic; ANEMIA LEUKOERYTHROBLASTIC; Leukoerythroblastosis; myelophthisis [-]	An aplastic anemia that is characterized by displa..[+] An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. [-]
macrocytic anemia	ANEMIA MACROCYTIC; Macrocytic anaemia of unspecifi.. [+] ANEMIA MACROCYTIC; Macrocytic anaemia of unspecified cause; Macrocytic Anemia; Macrocytic anemia (disorder); Macrocytic anemia of unspecified cause (disorder); Macrocytic anemia; Macrocytic anaemia [-]	An anemia that is characterized by the production ..[+] An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL). [-]	1 articles
Takayasu's arteritis	Aortic arch syndrome; aortic arch syndrome; Aortic.. [+] aortic arch syndrome; Aortic arch syndrome; Aortic Arch syndrome; Aortic arch arteritis; (Aortic arch arteritis) or (Takayasu's disease[& pulseless]); Takayasu's disease; Idiopathic aortitis (disorder); Idiopathic aortitis; Takayasu arteritis [-]	A vasculitis that involves inflammation of the aor..[+] A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body. [-]
intracranial structure hemangioma	Angioma of intracranial Structure; hemangioma of i.. [+] Angioma of intracranial Structure; hemangioma of intracranial structure (disorder); hemangioma of intracranial structures; hemangioma of intracranial structures (disorder); hemangioma of intracranial structure [-]	n_a
Landau-Kleffner syndrome	acquired epileptic aphasia	A childhood electroclinical syndrome that is chara..[+] A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. [-]	1 articles
suppurative periapical periodontitis	Apical abscess; Suppurative apical periodontitis; .. [+] Apical abscess; Suppurative apical periodontitis; Periapical abscess (disorder); Periapical abscess; Dentoalveolar abscess [-]	n_a
sebaceous adenoma	adenoma of the Sebaceous gland; Sebaceous adenoma .. [+] adenoma of the Sebaceous gland; Sebaceous adenoma (morphologic abnormality); skin appendage sebaceous adenoma; Sebaceous adenoma [-]	n_a
epidermolysis bullosa	acantholysis bullosa; Epidermolysis bullosa (disor.. [+] acantholysis bullosa; Epidermolysis bullosa (disorder); Epidermolysis bullosa [-]	A vesiculobullous skin disease that is characteriz..[+] A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. [-]
skin atrophy	Atrophoderma; Atrophy - skin; atrophic condition o.. [+] Atrophy - skin; Atrophoderma; atrophic condition of skin [-]	n_a	1 articles
Hajdu-Cheney syndrome	acroosteolysis with osteoporosis and changes in sk.. [+] acroosteolysis with osteoporosis and changes in skull and mandible; arthrodentoosteodysplasia; HJCYS; serpentine fibula-polycystic kidney syndrome; SFPKS; Cheney syndrome [-]	A bone disease characterized by short stature, coa..[+] A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. [-]
glycogen storage disease III	amylo 1,6 glucosidase deficiency; deficiency of de.. [+] amylo 1,6 glucosidase deficiency; deficiency of dextrin; Glycogen storage disease, type III (disorder); Glycogen storage disease, type III; deficiency of debranching enzyme; Glycogen storage disease 3 [-]	A glycogen storage disease that is characterized b..[+] A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. [-]
glycogen storage disease IV	Amylopectinosis; Branching-transferase deficiency .. [+] Amylopectinosis; Branching-transferase deficiency glycogenosis (disorder); deficiency of 1,4-alpha-glucan branching enzyme; Glycogen storage disease, type IV (disorder); brancher deficiency glycogenosis; Branching-transferase deficiency glycogenosis; Glycogen storage disease, type IV; Glycogen storage disease 4 [-]	A glycogen storage disease that has_material_basis..[+] A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. [-]
glycogen storage disease II	acid maltase deficiency; deficiency of maltase; Ge.. [+] acid maltase deficiency; deficiency of maltase; Generalized glycogenosis (disorder); glycogen storage disease type II; Glycogenosis, type 2; Lysosomal alpha-1,4-glucosidase deficiency (disorder); Glycogen storage disease, type II (disorder); Lysosomal alpha-1,4-glucosidase deficiency; Generalized glycogenosis; Pompe's disease; deficiency of glucoamylase; Glycogen storage disease, type II; Glycogen storage disease 2 [-]	A glycogen storage disease that has_material_basis..[+] A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. [-]
ethmoid sinus adenoid cystic carcinoma	adenoid cystic carcinoma of the ethmoid sinus; ade.. [+] adenoid cystic carcinoma of the ethmoid sinus; adenoid cystic carcinoma of ethmoid sinus [-]	n_a
ethmoid sinus adenocarcinoma	adenocarcinoma of the ethmoid sinus; adenocarcinom.. [+] adenocarcinoma of the ethmoid sinus; adenocarcinoma of ethmoid sinus [-]	An ethmoid sinus cancer that derives from epitheli..[+] An ethmoid sinus cancer that derives from epithelial cells of glandular origin. [-]
long bone adamantinoma	adamantinoma of long bones (morphologic abnormalit.. [+] adamantinoma of long bones (morphologic abnormality); adamantinoma of long bones; adamantinoma of long bone (disorder); adamantinoma of long bone [-]	An adamantinoma that is located_in the long bones ..[+] An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. [-]
Dandy-Walker syndrome	Atresia of foramina of Magendie and Luschka	A cerebellar disease that is characterized by hypo..[+] A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. [-]
endometrial adenocarcinoma	adenocarcinoma of uterus; adenocarcinoma of endome.. [+] adenocarcinoma of uterus; adenocarcinoma of endometrium; adenocarcinoma of uterus (disorder); adenocarcinoma of the Endometrium; adenocarcinoma of endometrium (disorder); endometrial adenoacanthoma; endometrioid adenoma or carcinoma NOS (morphologic abnormality); endometrioid adenomas and carcinomas (morphologic abnormality); endometrial endometrioid adenocarcinoma; endometrioid adenoma or carcinoma; endometrioid adenomas and carcinomas; endometrial endometrioid adenocarcinoma with squamous differentiation; endometrioid carcinoma of Endometrium [-]	An endometrial carcinoma that derives_from epithel..[+] An endometrial carcinoma that derives_from epithelial cells of glandular origin. [-]
prostatic adenoma	adenoma of prostate; adenoma - prostate; benign ad.. [+] adenoma - prostate; adenoma of prostate; benign adenoma of prostate; benign adenoma of prostate (disorder); prostate adenoma [-]	A male reproductive organ benign neoplasm that der..[+] A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate. [-]
thyroid adenoma	adenoma of thyroid gland	An endocrine organ benign neoplasm that is located..[+] An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells. [-]	1 articles
Klippel-Trenaunay syndrome	angioosteohypertrophy syndrome; Haemangiectatic hy.. [+] angioosteohypertrophy syndrome; Haemangiectatic hypertrophy; Klippel-Trenaunay-Weber syndrome [-]	A syndrome that is characterized by large cutaneou..[+] A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. [-]
cecum adenocarcinoma	adenocarcinoma of cecum (disorder); adenocarcinoma.. [+] adenocarcinoma of cecum (disorder); adenocarcinoma of cecum; Cecal adenocarcinoma [-]	A cecum carcinoma that derives_from epithelial cel..[+] A cecum carcinoma that derives_from epithelial cells of glandular origin. [-]
Churg-Strauss syndrome	Allergic Granulomatous Angiitis; Allergic granulom.. [+] Allergic Granulomatous Angiitis; Allergic granulomatosis angiitis; Allergic granulomatosis angiitis (disorder); Churg-Strauss vasculitis [-]	A vasculitits that is systemic vasculitis realized..[+] A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. [-]
glioblastoma	adult glioblastoma multiforme; GBM; GBM (Glioblast.. [+] adult glioblastoma multiforme; GBM; GBM (Glioblastoma); grade IV adult Astrocytic tumor; primary glioblastoma multiforme; spongioblastoma multiforme; glioblastoma multiforme [-]	A malignant astrocytoma characterized by the prese..[+] A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. [-]	6 articles	8 matches
malignant astrocytoma	Astrocytoma, NOS; astroglioma; astrocytoma of Cere.. [+] astroglioma; Astrocytoma, NOS; astrocytoma of Cerebrum; astrocytoma of brain; astrocytoma, no ICD-O subtype (morphologic abnormality); astrocytoma of brain (disorder); Astrocytic tumor; cerebral astrocytoma [-]	A malignant glioma that is has_material_basis_in a..[+] A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. [-]	6 articles	8 matches
gingivitis	acute gingivitis; chronic gingivitis	n_a
pleomorphic rhabdomyosarcoma	anaplastic Rhabdomyosarcoma; Pleomorphic rhabdomyo.. [+] anaplastic Rhabdomyosarcoma; Pleomorphic rhabdomyosarcoma (disorder); Pleomorphic rhabdomyosarcoma, adult type [-]	n_a
Tay-Sachs disease	A GM2 gangliosidosis that is characterized the ons.. [+] A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.; disease, Tay-Sachs; hexosaminidase A deficiency; Tay-Sachs disease (disorder); GM2 gangliosidosis, type 1 [-]	A GM2 gangliosidosis that is characterized onset i..[+] A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. [-]
coronary aneurysm	Aneurysmal lesion of coronary artery; Arteriovenou.. [+] Aneurysmal lesion of coronary artery; Arteriovenous aneurysm of coronary vessels; Aneurysm of coronary vessels [-]	n_a
breast adenocarcinoma	adenocarcinoma of breast; Mammary adenocarcinoma	A breast carcinoma that originates in the milk duc..[+] A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. [-]
extrahepatic bile duct adenocarcinoma	adenocarcinoma of the extrahepatic bile duct; aden.. [+] adenocarcinoma of the extrahepatic bile duct; adenocarcinoma of extrahepatic bile duct [-]	An extrahepatic bile duct carcinoma that derives_f..[+] An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. [-]
gallbladder adenocarcinoma	adenocarcinoma of the gallbladder	A gallbladder carcinoma that derives_from epitheli..[+] A gallbladder carcinoma that derives_from epithelial cells of glandular origin. [-]
Canavan disease	ASPA DEFICIENCY; ASPARTOACYLASE DEFICIENCY; ASP DE.. [+] ASPARTOACYLASE DEFICIENCY; ASPA DEFICIENCY; ASP DEFICIENCY; AMINOACYLASE 2 DEFICIENCY; ACY2 DEFICIENCY; CANAVAN-VAN BOGAERT-BERTRAND DISEASE; Spongy degeneration of central nervous system [-]	A leukodystrophy characterized by onset in early i..[+] A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. [-]

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