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Disease	Synonyms	Description
aortic valve insufficiency	aortic incompetence; aortic insufficiency ; aortic.. [+] aortic incompetence; aortic insufficiency ; aortic regurgitation; Corrigan's disease; Rheumatic aortic insufficiency; Rheumatic aortic regurgitation; rheumatic aortic valve insufficiency; Rheumatic aortic valve regurgitation; [-]	An aortic valve disease that is characterized by l..[+] An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. [-]
aortic valve prolapse		n_a
aortic valve stenosis	Aortic stenosis; AS; Congenital aortic valve steno.. [+] Aortic stenosis; AS; Congenital aortic valve stenosis; Rheumatic aortic stenosis; rheumatic aortic valve stenosis; [-]	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. [-]
aortitis		n_a
aphasia		A language disorder that involves an acquired impa..[+] A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. [-]
aphthous stomatitis	Aphtha; Aphthous ulceration (disorder); Canker sor.. [+] Aphtha; Aphthous ulceration (disorder); Canker sore; Oral aphthae; Oral aphthous ulcer; oral ulcer; Aphthous ulceration; [-]	A stomatitis characterized by the repeated formati..[+] A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. [-]
apical myocardial infarction		n_a
aplastic anemia		An anemia that is characterized by a deficiency of..[+] An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. [-]
apocrine adenoma	tubular Apocrine adenoma;	n_a
apocrine adenosis of breast	Apocrine Adenosis of the breast;	n_a
apocrine carcinoma	Apocrine adenocarcinoma (morphologic abnormality);.. [+] Apocrine adenocarcinoma (morphologic abnormality); Apocrine carcinoma; apocrine gland carcinoma; carcinoma of the Apocrine gland; apocrine adenocarcinoma; [-]	An apocrine sweat gland cancer that derives_from e..[+] An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. [-]
apocrine sweat gland cancer	malignant Apocrine tumor;	n_a
apocrine sweat gland neoplasm	Apocrine tumor;	n_a
apparent mineralocorticoid excess	11-beta-hydroxysteroid dehydrogenase deficiency ty.. [+] 11-beta-hydroxysteroid dehydrogenase deficiency type 2; APE; cortisol 11-beta-ketoreductase deficiency; Ulick syndrome; [-]	An adrenal gland hyperfunction characterized by de..[+] An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. [-]
apparent mineralocorticoid excess syndrome	syndrome of apparent mineralocorticoid excess (dis.. [+] syndrome of apparent mineralocorticoid excess (disorder); [-]	n_a
appendiceal L-cell glucagon-like peptide producing tumor	malignant appendiceal glucagonoma; malignant appen.. [+] malignant appendiceal glucagonoma; malignant appendiceal L-cell glucagon-like peptide producing tumor; appendiceal L-cell glucagon-like peptide producing tumour; malignant appendiceal L-cell glucagon-like peptide producing tumour; [-]	n_a
appendiceal neoplasm	appendix neoplasm; neoplasm of appendix (disorder).. [+] appendix neoplasm; neoplasm of appendix (disorder); [-]	n_a
appendicitis	acute appendicitis; acute appendicitis with genera.. [+] acute appendicitis; acute appendicitis with generalized peritonitis; acute appendicitis with generalized peritonitis (disorder); acute appendicitis with peritoneal abscess; acute appendicitis with peritoneal abscess (disorder); [-]	A gastrointestinal system infectious disease that ..[+] A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. [-]
appendix adenocarcinoma	adenocarcinoma of appendix; adenocarcinoma of appe.. [+] adenocarcinoma of appendix; adenocarcinoma of appendix (disorder); Appendiceal adenocarcinoma; [-]	An appendix carcinoma that derives_from epithelial..[+] An appendix carcinoma that derives_from epithelial cells of glandular origin. [-]
appendix cancer	cancer of the appendix; malignant neoplasm of appe.. [+] cancer of the appendix; malignant neoplasm of appendix vermiformis; malignant tumor of appendix (disorder); malignant tumor of the appendix; [-]	A intestinal cancer that is located_in the appendi..[+] A intestinal cancer that is located_in the appendix. [-]
appendix carcinoid tumor	appendix carcinoid endocrine tumour;	An appendix cancer that has_material_basis_in neur..[+] An appendix cancer that has_material_basis_in neurodendocrine cells. [-]
appendix carcinoma	(Ca appendix) or (appendix carcinoma); Ca appendix.. [+] (Ca appendix) or (appendix carcinoma); Ca appendix; carcinoma of appendix; [-]	An appendix cancer that has_material_basis_in abno..[+] An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [-]
appendix leiomyoma	Appendiceal leiomyoma;	n_a
appendix lymphoma	Appendiceal Lymphoma;	n_a
appendix mucinous cystadenocarcinoma	Colloidal cystadenocarcinoma of the appendix;	n_a
apperceptive agnosia		An agnosia that is a loss of the ability to distin..[+] An agnosia that is a loss of the ability to distinguish visual shapes. [-]
apple allergy	Malus domestica fruit allergy;	A fruit allergy triggered by Malus domestica plant..[+] A fruit allergy triggered by Malus domestica plant fruit food product. [-]
apraxia		An agnosia that is a loss of the ability to map ou..[+] An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. [-]
apricot allergy	Prunus armeniaca fruit allergy;	A fruit allergy triggered by Prunus armeniaca plan..[+] A fruit allergy triggered by Prunus armeniaca plant fruit food product. [-]
aqueous misdirection		A glaucoma characterized by shallowing of the cent..[+] A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. [-]
arachnoiditis		n_a
arcus senilis	Arcus of cornea; corneal arcus;	n_a
argininosuccinic aciduria	Argininosuccinate lyase deficiency (disorder); arg.. [+] Argininosuccinate lyase deficiency (disorder); argininosuccinic acidemia; arginosuccinase deficiency; deficiency of argininosuccinate lyase (disorder); [-]	An amino acid metabolic disorder that involves the..[+] An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. [-]
ariboflavinosis	vitamin B2 deficiency;	n_a
aromatase excess syndrome	AEXS; familial hyperestrogenism; hereditary prepub.. [+] AEXS; familial hyperestrogenism; hereditary prepubertal gynecomastia; increased aromatase activity; [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
aromatic L-amino acid decarboxylase deficiency	AADC deficiency;	An inherited metabolic disorder characterized by r..[+] An inherited metabolic disorder characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction with onset in infancy or childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DDC gene on chromosome 7p12. [-]
arrhythmogenic right ventricular cardiomyopathy	arrhythmogenic right ventricular dysplasia; arrhyt.. [+] arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular dysplasia/cardiomyopathy; ARVC; ARVC cardiomyopathy; ARVD; [-]	An intrinsic cardiomyopathy that is characterized ..[+] An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. [-]
arrhythmogenic right ventricular dysplasia 1	arrhythmogenic right ventricular cardiomyopathy 1;.. [+] arrhythmogenic right ventricular cardiomyopathy 1; ARVC1; ARVD1; familial arrhythmogenic right ventricular dysplasia 1; Uhl anomaly; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. [-]
arrhythmogenic right ventricular dysplasia 10	arrhythmogenic right ventricular cardiomyopathy 10.. [+] arrhythmogenic right ventricular cardiomyopathy 10; ARVC10; ARVD10; familial arrhythmogenic right ventricular dysplasia 10; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. [-]
arrhythmogenic right ventricular dysplasia 11	arrhythmogenic right ventricular cardiomyopathy 11.. [+] arrhythmogenic right ventricular cardiomyopathy 11; ARVC11; ARVD11; familial arrhythmogenic right ventricular dysplasia 11; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. [-]
arrhythmogenic right ventricular dysplasia 12	arrhythmogenic right ventricular cardiomyopathy 12.. [+] arrhythmogenic right ventricular cardiomyopathy 12; ARVC12; ARVD12; familial arrhythmogenic right ventricular dysplasia 12; [-]	n_a
arrhythmogenic right ventricular dysplasia 13	arrhythmogenic right ventricular cardiomyopathy 13.. [+] arrhythmogenic right ventricular cardiomyopathy 13; ARVC13; ARVD13; familial arrhythmogenic right ventricular dysplasia 13; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. [-]
arrhythmogenic right ventricular dysplasia 2	arrhythmogenic right ventricular cardiomyopathy 2;.. [+] arrhythmogenic right ventricular cardiomyopathy 2; ARVC2; ARVD2; familial arrhythmogenic right ventricular dysplasia 2; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the cardiac ryanodine receptor-2 gene (RYR2) on chromosome 1q43. [-]
arrhythmogenic right ventricular dysplasia 3	arrhythmogenic right ventricular cardiomyopathy 3;.. [+] arrhythmogenic right ventricular cardiomyopathy 3; ARVC3; ARVD3; familial arrhythmogenic right ventricular dysplasia 3; [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. [-]
arrhythmogenic right ventricular dysplasia 4	arrhythmogenic right ventricular cardiomyopathy 4;.. [+] arrhythmogenic right ventricular cardiomyopathy 4; ARVC4; ARVD4; fanilial arrhythmogenic right ventricular dysplasia 4; [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. [-]
arrhythmogenic right ventricular dysplasia 5	arrhythmogenic right ventricular cardiomyopathy 5;.. [+] arrhythmogenic right ventricular cardiomyopathy 5; ARVC5; ARVD5; familial arrhythmogenic right ventricular dysplasia 5; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. [-]
arrhythmogenic right ventricular dysplasia 6	arrhythmogenic right ventricular cardiomyopathy 6;.. [+] arrhythmogenic right ventricular cardiomyopathy 6; ARVC6; ARVD6; familial arrhythmogenic right ventricular dysplasia 6; [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. [-]
arrhythmogenic right ventricular dysplasia 8	arrhythmogenic right ventricular cardiomyopathy 8;.. [+] arrhythmogenic right ventricular cardiomyopathy 8; ARVC8; ARVD8; familial arrhythmogenic right ventricular dysplasia 8; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. [-]
arrhythmogenic right ventricular dysplasia 9	arrhythmogenic right ventricular cardiomyopathy 9;.. [+] arrhythmogenic right ventricular cardiomyopathy 9; ARVC9; ARVD9; familial arrhythmogenic right ventricular dysplasia 9; [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11. [-]
arterial calcification of infancy	generalized arterial calcification of infancy; idi.. [+] generalized arterial calcification of infancy; idiopathic infantile arterial calcification; infantile arteriosclerosis; [-]	A vascular disease that is characterized by genera..[+] A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. [-]

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