| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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ectodermal dysplasia 6
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ectodermal dysplasia 6, hair/nail type; ECTD6
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A pure hair and nail ectodermal dysplasia that has.. [+]A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2.
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ectodermal dysplasia 7
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ectodermal dysplasia 7, hair/nail type; ECTD7
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A pure hair and nail ectodermal dysplasia that has.. [+]A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13.
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ectodermal dysplasia 8
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ectodermal dysplasia 8, hair/tooth/nail type; ECTD..
[+]
ectodermal dysplasia 8, hair/tooth/nail type; ECTD8; Fried's tooth and nail syndrome
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An ectodermal dysplasia characterized by hypotrich.. [+]An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3.
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ectodermal dysplasia 14
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ectodermal dysplasia 14, hair/tooth type with or w..
[+]
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis; ECTN14
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An ectodermal dysplasia characterized by scalp hyp.. [+]An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3.
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ectodermal dysplasia 10A
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ectodermal dysplasia 10A, hypohidrotic/hair/nail t..
[+]
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; ECTD10A
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A hypohidrotic ectodermal dysplasia that has_mater.. [+]A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13.
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ectodermal dysplasia 1
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ectodermal dysplasia 1, hypohidrotic/hair/tooth ty..
[+]
ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked; ectodermal dysplasia 1, hypohidrotic, X-linked; ED1; ectodermal dysplasia 1, anhidrotic; CST syndrome; HED1; hypohidrotic ectodermal dysplasia, X-Linked; X-linked anhidrotic ectodermal dysplasia; XHED; XLHED; Christ-Siemens-Touraine syndrome
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A hypohidrotic ectodermal dysplasia that has_mater.. [+]A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
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ectodermal dysplasia 10B
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ectodermal dysplasia 10B, hypohidrotic/hair/nail t..
[+]
ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive; ECTD10B
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A hypohidrotic ectodermal dysplasia that has_mater.. [+]A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13.
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enterokinase deficiency
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congenital enterokinase deficiency; deficiency of ..
[+]congenital enterokinase deficiency; deficiency of enteropeptidase; congenital enteropathy due to enteropeptidase deficiency
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An intestinal disease characterized by early-onset.. [+]An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1.
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essential fructosuria
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fructokinase deficiency; hepatic fructokinase defi..
[+]fructokinase deficiency; hepatic fructokinase deficiency; ketohexokinase deficiency
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A carbohydrate metabolic disorder characterized by.. [+]A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.
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Eiken syndrome
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Eiken skeletal dysplasia; bone modeling defect of ..
[+]
Eiken skeletal dysplasia; bone modeling defect of hands and feet
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A bone development disease characterized by severe.. [+]A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31.
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squamous cell papilloma
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Epidermoid papilloma; squamous cell papilloma (mor..
[+]
Epidermoid papilloma; squamous cell papilloma (morphologic abnormality)
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n_a
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carcinoma
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epithelioma; epithelial cancer; malignant Epitheli..
[+]
epithelial cancer; epithelioma; malignant Epithelioma
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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 epithelial cells.
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11 articles
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20 matches
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accessory nerve disease
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Eleventh nerve disorder; disorder of 11th nerve; d..
[+]
Eleventh nerve disorder; disorder of 11th nerve; disorder of accessory [11th] nerve; disorder of accessory nerve (disorder); disorder of accessory nerve
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A glossopharyngeal nerve disease that is character.. [+]A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).
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cervix endometriosis
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Endometriosis of cervix; cervical Endometriosis
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A cervix disease that is characterized by the grow.. [+]A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix.
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olfactory neuroblastoma
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Esthesioneuroepithelioma; Esthesioneuroblastoma; E..
[+]
Esthesioneuroblastoma; Esthesioneuroepithelioma; Esthesioneuroblastoma (morphologic abnormality); Esthesioneuroepithelioma [dup] (morphologic abnormality); Esthesioneuroepithelioma (morphologic abnormality); Asthesioneuroblastoma (morphologic abnormality); Olfactory Esthesioneuroblastoma; paranasal sinus Olfactory neuroblastoma; Asthesioneuroblastoma
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n_a
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Loeffler endocarditis
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Eosinophilic Endomyocardial disease
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A restrictive cardiomyopathy that affects the endo.. [+]A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils.
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histiocytoid hemangioma
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epithelioid hemangioma; epithelioid hemangioma (mo..
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epithelioid hemangioma; epithelioid hemangioma (morphologic abnormality); epithelioid haemangioma; Angiolymphoid hyperplasia with eosinophilia (disorder); Angiolymphoid hyperplasia with eosinophilia
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n_a
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ophthalmoplegia
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eye movement paralysis; extraocular muscle paralys..
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eye movement paralysis; extraocular muscle paralysis; oculomotor paralysis; Total ophthalmoplegia
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n_a
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nerve compression syndrome
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Entrapment Neuropathy; entrapment neuropathy; Comp..
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entrapment neuropathy; Entrapment Neuropathy; Compression neuropathy; peripheral nerve entrapment syndrome
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n_a
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viral encephalitis
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epidemic encephalitis
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An encephalitis that involves inflammation of the .. [+]An encephalitis that involves inflammation of the brain caused by viral infection.
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1 articles
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dental enamel hypoplasia
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Enamel hypoplasia; enamel hypoplasia; Enamel hypop..
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enamel hypoplasia; Enamel hypoplasia; Enamel hypoplasia (disorder); Enamel Hypoplasia
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n_a
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liver neoplasm
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epithelial hepatic and intrahepatic bile duct neop..
[+]
epithelial hepatic and intrahepatic bile duct neoplasm
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n_a
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brain disease
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encephalopathy
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A central nervous system disease that is located_i.. [+]A central nervous system disease that is located_in the brain.
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137 articles
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32 matches
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hypereosinophilic syndrome
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eosinophilia; Eosinophilic leukocytosis
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A leukocyte disease that is characterized by high .. [+]A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs.
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hemolytic disease of the fetus
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EF - Erythroblastosis foetalis; erythroblastosis f..
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EF - Erythroblastosis foetalis; erythroblastosis fetalis; (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn); Haemolytic disease due to rhesus isoimmunisation; rhesus isoimmunisation of the newborn; alloimmune HDFN; fetal erythroblastosis; Hemolytic disease of the fetus and newborn
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A microcytic anemia that is characterized by Rho(D.. [+]A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
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hyperlipoproteinemia type IV
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Endogenous hyperlipidaemia; familial hypertriglyce..
[+]
Endogenous hyperlipidaemia; familial hypertriglyceridemia; Fredrickson type IV hyperlipoproteinemia (disorder); Fredrickson type IV Lipidemia; VLDL hyperlipoproteinemia; Fredrickson type IV hyperlipoproteinemia; Fredrickson type IV lipidaemia
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n_a
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ocular motility disease
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eye movement disorder; disorder of eye movements
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n_a
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miliaria
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eccrine miliaria; sweat rash; heat rash
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A sweat gland disease that is characterized by blo.. [+]A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
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parasitic infectious disease
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Ectoparasitic disease; parasitemia
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A disease by infectious agent that is carried out .. [+]A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
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18 articles
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cystic echinococcosis
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Echinococcus granulosus infection of thyroid; echi..
[+]
Echinococcus granulosus infection of thyroid; echinococcus granulosus infectious disease of thyroid; Echinococcus granulosus infectious disease of liver; Echinococcus granulosus infection; echinococcus granulosus; Echinococcus granulosus infectious disease of liver (disorder); echinococcus granulosus infectious disease; Echinococcus granulosus infection, unspecified; Echinococcus granulosus infection of thyroid (disorder); Echinococcus granulosus infection of lung (disorder); Echinococcus granulosus infection of lung; Echinococcus granulosus infection (disorder); echinococcus granulosus infectious disease of liver; Liver echinococcus granulosus (disorder); lung echinococcus granulosus; lung echinococcus granulosus (disorder); Thyroid echinococcus granulosus (disorder); unilocular echinococcosis; unilocular hydatid disease; Unspecified echinococcus granulosus (disorder); Liver echinococcus granulosus; Thyroid echinococcus granulosus
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An echinococcosis that is caused by the larvae of .. [+]An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.
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alcohol use disorder
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Ethanol abuse; alcohol abuse
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A substance abuse that involves the recurring use .. [+]A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
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1 articles
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melancholic depression
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endogenous depression; clinical depression; unipol..
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endogenous depression; clinical depression; unipolar 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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squamous cell carcinoma
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epidermoid carcinoma; malignant squamous cell tumo..
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epidermoid carcinoma; malignant squamous cell tumor; squamous cell carcinoma (disorder); squamous cell carcinoma (morphologic abnormality); squamous cell carcinoma NOS (morphologic abnormality); squamous cell Epithelioma; squamous carcinoma; squamous cell cancer
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A carcinoma that derives_from squamous epithelial .. [+]A carcinoma that derives_from squamous epithelial cells.
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2 articles
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4 matches
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ocular melanoma
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eye melanoma; intraocular melanoma; melanoma of ey..
[+]
eye melanoma; intraocular melanoma; melanoma of eye
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An ocular cancer that has_material_basis_in melano.. [+]An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
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islet cell tumor
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endocrine pancreas cancer; Islet cell neoplasm; Is..
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endocrine pancreas cancer; Islet cell neoplasm; Islet cell tumor; malignant pancreatic Endocrine tumor; malignant tumor of endocrine pancreas (disorder); Islet cell tumour; islet cell tumour; malignant pancreatic Endocrine tumour; malignant tumour of endocrine pancreas; pancreatic Endocrine neoplasm; malignant tumor of endocrine pancreas
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A pancreatic cancer that is located_in the pancrea.. [+]A pancreatic cancer that is located_in the pancreatic islet cells.
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impotence
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erectile dysfunction; Sexual impotence (finding); ..
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erectile dysfunction; Sexual impotence (finding); Sexual impotence
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A sexual dysfunction that is characterized by pers.. [+]A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.
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1 articles
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otosalpingitis
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Eustachian salpingitis; Eustachian tube salpingiti..
[+]
Eustachian salpingitis; Eustachian tube salpingitis
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A eustachian tube disorder which involves inflamma.. [+]A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube.
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nodular hidradenoma
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Eccrine nodular hidradenoma; nodular hidradenoma
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n_a
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ovary epithelial cancer
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epithelial tumor of ovary (disorder); epithelial t..
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epithelial tumor of ovary (disorder); epithelial tumor of ovary; Ovarian Surface epithelial-Stromal tumor
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An ovarian cancer that is derives_from ovarian sur.. [+]An ovarian cancer that is derives_from ovarian surface epithelium.
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ocular cancer
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eye neoplasm; neoplasm of eye; Ocular tumor; neopl..
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eye neoplasm; neoplasm of eye; Ocular tumor; neoplasm of eye proper; malignant eye neoplasm
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A sensory system cancer located_in the eye that is.. [+]A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye.
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7 articles
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25 matches
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frontal sinus squamous cell carcinoma
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Epidermoid carcinoma of the Frontal sinus
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A squamous cell carcinoma that is located_in the f.. [+]A squamous cell carcinoma that is located_in the frontal sinus.
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basal cell carcinoma
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Epithelioma basal cell; Epithelioma basal cell (di..
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Epithelioma basal cell; Epithelioma basal cell (disorder); Basal cell cancer; Basal cell carcinoma NOS (morphologic abnormality); BASAL CELL carcinoma OF SKIN; Basal cell carcinoma of skin (disorder); Basal cell neoplasm NOS (morphologic abnormality); malignant Basal cell neoplasm; malignant basal cell tumor; Basal cell neoplasm (morphologic abnormality); Basal cell tumor (morphologic abnormality); malignant basal cell tumor (morphologic abnormality); Basal cell neoplasm; Rodent ulcer; Basal cell carcinoma of skin; Basal cell tumor
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A skin carcinoma affecting basal cells.
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1 articles
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3 matches
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reflex epilepsy
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epilepsy, sensory-induced
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A variable age at onset electroclinical syndrome t.. [+]A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.
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dermatitis
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eczema; skin inflammation
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A skin disease characterized by itchy, erythematou.. [+]A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
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1 articles
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auditory system disease
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ear and mastoid disease
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A sensory system disease that is characterized by .. [+]A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
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17 articles
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asthma
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Exercise induced asthma; exercise-induced asthma; ..
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exercise-induced asthma; Exercise induced asthma; chronic obstructive asthma; chronic obstructive asthma with acute exacerbation; chronic obstructive asthma with status asthmaticus; bronchial hyperreactivity
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A bronchial disease that is characterized by chron.. [+]A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.
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4 articles
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laryngeal squamous cell carcinoma
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Epidermoid carcinoma of the Larynx; squamous cell ..
[+]
Epidermoid carcinoma of the Larynx; squamous cell carcinoma of larynx (disorder); squamous cell carcinoma of larynx
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A laryngeal carcinoma that has_material_basis_in s.. [+]A laryngeal carcinoma that has_material_basis_in squamous cells.
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female reproductive endometrioid cancer
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endometrioid tumor; endometrioid tumor (morphologi..
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endometrioid tumor; endometrioid tumor (morphologic abnormality); endometrioid neoplasm; female reproductive endometrioid neoplasm
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A female reproductive organ cancer that is charact.. [+]A female reproductive organ cancer that is characterized by a resemblance to endometrium.
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skin squamous cell carcinoma
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Epidermoid skin carcinoma; squamous cell carcinoma..
[+]
Epidermoid skin carcinoma; squamous cell carcinoma of skin
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A skin carcinoma that has_material_basis_in squamo.. [+]A skin carcinoma that has_material_basis_in squamous cells.
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squamous cell neoplasm
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Epidermoid cell tumor; squamous cell tumor (qualif..
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Epidermoid cell tumor; squamous cell tumor (qualifier value); squamous cell tumor
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A cell type benign neoplasm composed_of epithelial.. [+]A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities.
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