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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
nephrolithiasis
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calculus of kidney and ureter; NEPHROLITHIASIS, CA..
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calculus of kidney and ureter; NEPHROLITHIASIS, CALCIUM OXALATE; UROLITHIASIS, CALCIUM OXALATE; Stone - kidney/ureter; kidney stones
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A kidney disease characterized by the formation of.. [+]
A kidney disease characterized by the formation of stoney concentrations in the kidneys.
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5 articles
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severe combined immunodeficiency
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combined T and B cell inborn immunodeficiency; SCI..
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combined T and B cell inborn immunodeficiency; SCID
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A combined T cell and B cell immunodeficiency that.. [+]
A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.
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urethra cancer
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cancer of urethra; urethral Ca; malignant tumour o..
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cancer of urethra; urethral Ca; malignant tumour of urethra; malignant urethral neoplasm
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An urinary tract cancer that derives_from the tiss.. [+]
An urinary tract cancer that derives_from the tissues of the urethra.
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situs inversus
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Complete transposition; Complete transposition (mo..
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Complete transposition; Complete transposition (morphologic abnormality); Laterality sequence (disorder); situs inversus viscerum (disorder); Laterality sequence; situs inversus viscerum
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A visceral heterotaxy that is characterized by com.. [+]
A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs.
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7 articles
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36 matches
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periodontitis
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chronic pericementitis
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n_a
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Bartholin's duct cyst
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Cyst of Bartholin's gland duct; Cyst of Bartholin'..
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Cyst of Bartholin's gland duct; Cyst of Bartholin's gland; Bartholin duct cyst; Bartholin's Cyst
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A female reproductive system disease that is chara.. [+]
A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands.
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Wilson disease
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Cerebral pseudosclerosis; hepatolenticular degener..
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Cerebral pseudosclerosis; hepatolenticular degeneration; Westphal pseudosclerosis; Westphal-Strumpell syndrome; Wilson's disease
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A metal metabolism disease that is characterized b.. [+]
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.
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autosomal dominant polycystic kidney disease
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Congenital biliary ectasias; POLYCYSTIC KIDNEY AND..
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Congenital biliary ectasias; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; ADPKD
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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.
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11 articles
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Zellweger syndrome
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cerebrohepatorenal syndrome; congenital iron overl..
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cerebrohepatorenal syndrome; congenital iron overload; peroxisome biogenesis disorder
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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.
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alopecia areata
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Circumscribed alopecia
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An autoimmune disease resulting in the loss of hai.. [+]
An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
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Fanconi syndrome
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Congenital Fanconi syndrome; Congenital Fanconi sy..
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Congenital Fanconi syndrome; Congenital Fanconi syndrome (disorder); adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome; deToni Fanconi syndrome; adult Fanconi Anemia
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A renal tubular transport disease of the proximal .. [+]
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
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2 articles
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primary open angle glaucoma
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chronic simple glaucoma
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An open-angle glaucoma that is characterized by th.. [+]
An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.
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Edwards syndrome
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Complete trisomy 18 syndrome; Complete trisomy 18 ..
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Complete trisomy 18 syndrome; Complete trisomy 18 syndrome (disorder); E3 Trisomy; trisomy 18
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A chromosomal duplciation syndrome that is charact.. [+]
A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18.
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esophageal carcinoma
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cancer of oesophagus; carcinoma of esophagus; carc..
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carcinoma of esophagus; cancer of oesophagus; carcinoma of oesophagus; carcinoma of esophagus (disorder); carcinoma OF ESOPHAGUS; cancer of esophagus
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A esophageal cancer that has_material_basis_in abn.. [+]
A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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1 articles
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sarcoma
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connective and soft tissue neoplasm; tumor of soft..
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connective and soft tissue neoplasm; tumor of soft tissue and skeleton
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A cell type cancer that has_material_basis_in abno.. [+]
A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.
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1 articles
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3 matches
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Rett syndrome
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cerebroatrophic hyperammonemia; Rett's disorder
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A pervasive developmental disease that is characte.. [+]
A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
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4 articles
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paranoid schizophrenia
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chronic paranoid schizophrenia; Paranoid type schi..
[+]
chronic paranoid schizophrenia; Paranoid type schizophrenia; Paraphrenia - late; Paraphrenic schizophrenia; paranoid type schizophrenia subchronic state
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A schizophrenia characterized by delusions or audi.. [+]
A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.
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transvestism
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cross dresser; Transvestic fetishism; Fetishistic ..
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cross dresser; Transvestic fetishism; Fetishistic transvestism (disorder); Dual-role transvestism; Fetishistic transvestism
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n_a
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vulva cancer
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Ca vulva; malignant neoplasm of vulva unspecified ..
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Ca vulva; malignant neoplasm of vulva unspecified (disorder); malignant neoplasm of vulva, NOS; malignant neoplasm of vulva, unspecified; malignant tumor of vulva (disorder); malignant Vulvar tumor; vulvar neoplasm; malignant neoplasm of vulva unspecified; neoplasm of vulva (disorder); malignant neoplasm of vulva; malignant tumor of vulva; vulval cancer; vulval neoplasm; Vulvar tumor; neoplasm of vulva
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A female reproductive organ cancer that is located.. [+]
A female reproductive organ cancer that is located_in the vulva.
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blood coagulation disease
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coagulation protein disease; postpartum coagulatio..
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coagulation protein disease; postpartum coagulation defect; postpartum coagulation defect with delivery; inherited blood coagulation disease
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A hematopoietic system disease that is characteriz.. [+]
A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding.
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labia minora carcinoma
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carcinoma of labia minora; Labia Minora cancer
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A vulva carcinoma that is located_in the labia min.. [+]
A vulva carcinoma that is located_in the labia minora.
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vulva carcinoma
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carcinoma of vulva; Vulvar carcinoma
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A vulva cancer that has_material_basis_in abnormal.. [+]
A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
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Diamond-Blackfan anemia
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chronic constitutional pure red cell anaemia; Blac..
[+]
chronic constitutional pure red cell anaemia; Blackfan - Diamond syndrome
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A pure red-cell aplasia that is characterized by a.. [+]
A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.
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4 articles
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urinary schistosomiasis
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cystitis with bilharziasis; cystitis with bilharzi..
[+]
cystitis with bilharziasis; cystitis with bilharziasis (disorder); bladder Schistosomiasis; Schistosoma haematobium (& vesical schistosomiasis); Schistosoma hematobium infectious disease; Schistosomiasis due to schistosoma haematobium; Schistosomiasis of bladder; Schistosoma haematobium infection; Schistosoma haematobium; Schistosoma Hematobium Infection; Vesical schistosomiasis
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A schistosomiasis that involves parasitic infectio.. [+]
A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.
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major depressive disorder
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clinical depression; single major depressive episo..
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clinical depression; single major depressive episode; recurrent major depression; major depression; unipolar depression
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A depressive disorder that is characterized by at .. [+]
A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.
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1 articles
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lymphangioma
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Congenital lymphangioma; benign lymphangioma (morp..
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Congenital lymphangioma; benign lymphangioma (morphologic abnormality); benign lymphangioma
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A benign vascular tumor that is composed of dilate.. [+]
A benign vascular tumor that is composed of dilated lymphatic channels.
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personality disorder
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character disorder
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A disease of mental health that involve long-term .. [+]
A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work.
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parathyroid carcinoma
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carcinoma of Parathyroid gland; parathyroid gland ..
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carcinoma of Parathyroid gland; parathyroid gland cancer; malignant neoplasm of parathyroid gland; malignant tumor of parathyroid gland (disorder); neoplasm of parathyroid gland; parathyroid gland adenocarcinoma; Parathyroid gland neoplasm; parathyroid neoplasm; malignant neoplasm of the Parathyroid; malignant tumor of parathyroid gland
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An endocrine gland cancer located_in the parathyro.. [+]
An endocrine gland cancer located_in the parathyroid glands located in the neck.
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head and neck carcinoma
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carcinoma of the neck; carcinoma of neck
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A head and neck cancer that has_material_basis_in .. [+]
A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx.
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1 articles
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melancholic depression
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clinical depression; unipolar depression; endogeno..
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clinical depression; unipolar depression; endogenous depression; major depressive disorder with melancholic features; melancholia
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A major depressive disorder characterized by near-.. [+]
A major depressive disorder characterized by near-complete absence of pleasure.
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lymphadenitis
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chronic Lymphadenitis; chronic adenitis; acute ade..
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chronic adenitis; chronic Lymphadenitis; acute adenitis; acute lymphadenitis; Adenitis; Inflammation of lymph node
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A lymph node disease that is characterized by an a.. [+]
A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes.
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1 articles
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breast fibroadenoma
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cellular Fibroadenoma; Complex Fibroadenoma of bre..
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cellular Fibroadenoma; Complex Fibroadenoma of breast; fibroadenoma; Juvenile fibroadenoma (morphologic abnormality); juvenile fibroadenoma of breast; Fibroadenoma of breast (disorder); Fibroadenoma; Fibroadenoma of breast; Juvenile fibroadenoma
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A breast benign neoplasm comprised of fibrous and .. [+]
A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
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benign breast phyllodes tumor
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Cystosarcoma phyllodes; Cystosarcoma phyllodes, NO..
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Cystosarcoma phyllodes; Cystosarcoma phyllodes, NOS; Cystosarcoma phyllodes NOS (morphologic abnormality); benign cystosarcoma phyllodes; benign Phyllodes neoplasm; benign Phyllodes neoplasm of the breast; Phyllodes tumor, benign (morphologic abnormality); Phyllodes neoplasm; Phyllodes tumor, benign
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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.
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heart septal defect
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Congenital septal defect of heart; Cardiac septal ..
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Congenital septal defect of heart; Cardiac septal defects; Congenital septal defect of heart (disorder); Cardiac septal defects (disorder); septal defect; Septal defect NOS; Septal defect NOS (disorder); Septal defect
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n_a
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5 articles
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aortic valve stenosis
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Congenital aortic valve stenosis; AS; rheumatic ao..
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Congenital aortic valve stenosis; AS; rheumatic aortic valve stenosis; Rheumatic aortic stenosis; Aortic stenosis
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An aortic valve disease that is characterized by n.. [+]
An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.
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2 articles
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duodenal ulcer
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Curling Ulcer; Curling's ulcers; Stress Ulcer
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n_a
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peritoneum cancer
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cancer of peritoneum; peritoneal neoplasm
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An organ system cancer that is located in the peri.. [+]
An organ system cancer that is located in the peritoneum.
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malignant conjunctival melanoma
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Conjunctival melanoma; malignant melanoma of conju..
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Conjunctival melanoma; malignant melanoma of conjunctiva (disorder); malignant melanoma of conjunctiva
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n_a
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Melkersson-Rosenthal syndrome
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Cheilitis granulomatosa of Mescher-Melkersson-Rose..
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Cheilitis granulomatosa of Mescher-Melkersson-Rosenthal; Melkersson's syndrome
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n_a
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pancreatic cancer
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Ca head of pancreas; Ca tail of pancreas; Ca body ..
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Ca tail of pancreas; Ca head of pancreas; Ca body of pancreas; malignant neoplasm of tail of pancreas; pancreas neoplasm; pancreatic neoplasm; pancreatic tumor; malignant neoplasm of body of pancreas; malignant neoplasm of head of pancreas
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An endocrine gland cancer located_in the pancreas.
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3 articles
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6 matches
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pancreatic endocrine carcinoma
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carcinoma of endocrine pancreas; carcinoma of endo..
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carcinoma of endocrine pancreas; carcinoma of endocrine pancreas (disorder); Islet cell carcinoma (morphologic abnormality); Islet cell carcinoma; malignant neoplasm of islets of Langerhans; pancreatic neuroendocrine carcinoma
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An islet cell tumor that has_material_basis_in epi.. [+]
An islet cell tumor that has_material_basis_in epithelial cells.
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Menkes disease
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COPPER TRANSPORT DISEASE; Menkes kinky-hair syndro..
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COPPER TRANSPORT DISEASE; Menkes kinky-hair syndrome; steely hair syndrome
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n_a
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giant cell reparative granuloma
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central giant cell reparative granuloma of jaw; ce..
[+]
central giant cell reparative granuloma of jaw; central giant cell granuloma; central giant cell reparative granuloma of jaw (disorder); central giant cell (reparative) granuloma
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n_a
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atrial heart septal defect
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congenital atrial septal defect; atrial septal def..
[+]
congenital atrial septal defect; atrial septal defect; atrioseptal defect; interatrial septal defect; auricular septal defect; interauricular septal defect
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A heart septal defect located_in in the septum tha.. [+]
A heart septal defect located_in in the septum that separates the two atria of the heart.
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2 articles
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hepatitis C
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chronic hepatitis C; Viral hepatitis C; hepatitis ..
[+]
chronic hepatitis C; Viral hepatitis C; hepatitis C infection; NANBH; hepatitis nonA nonB
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A viral infectious disease that results_in inflamm.. [+]
A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
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allergic contact dermatitis of eyelid
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Contact and allergic dermatitis of eyelid
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A noninfectious dermatoses of eyelid that is chara.. [+]
A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant.
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Lesch-Nyhan syndrome
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Complete hypoxanthine-guanine phosphoribosyltransf..
[+]
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; deficiency of IMP pyrophosphorylase; HG-PRT deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch-Nyhan syndrome (disorder); X-linked hyperuricemia (disorder) [Ambiguous]; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency; X-linked hyperuricemia; Hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch - Nyhan syndrome; HPRT1 deficiency
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A purine-pyrimidine metabolic disorder characteriz.. [+]
A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26.
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fallopian tube carcinoma
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carcinoma of fallopian tube; carcinoma of fallopia..
[+]
carcinoma of fallopian tube; carcinoma of fallopian tube (disorder); cancer of the fallopian tube; fallopian tube Ca
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A fallopian tube cancer that is located_in the fal.. [+]
A fallopian tube cancer that is located_in the fallopian tube.
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rectum cancer
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carcinoma of rectum; carcinoma of the rectum; canc..
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carcinoma of the rectum; carcinoma of rectum; cancer of rectum; malignant Rectal tumor; malignant tumor of rectum (disorder); malignant neoplasm of rectum; malignant rectum tumor; malignant tumor of rectum; rectal cancer
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A colorectal cancer that is located_in the rectum.
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preretinal fibrosis
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cellophane maculopathy; Macular puckering of retin..
[+]
cellophane maculopathy; Macular puckering of retina; Macular retinal puckering
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n_a
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