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Disease	Synonyms	Description
aortic valve prolapse		n_a
aortic valve stenosis	AS; Congenital aortic valve stenosis; Aortic steno.. [+] AS; Congenital aortic valve stenosis; Aortic 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 language modality such as producing or comprehending spoken or written language. [-]
aphthous stomatitis	Aphthous ulceration (disorder); Aphtha; Oral aphth.. [+] Aphthous ulceration (disorder); Aphtha; Oral aphthae; Oral aphthous ulcer; oral ulcer; Aphthous ulceration; Canker sore; [-]	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
aplasia of lacrimal and salivary glands	ALSG; congenital absence of lacrimal puncta and sa.. [+] ALSG; congenital absence of lacrimal puncta and salivary glands; [-]	A syndrome characterized by irritable eyes, epipho..[+] A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. [-]
aplastic anemia		A normocytic anemia that is characterized by a def..[+] A normocytic 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;	A non-proliferative fibrocystic change of the brea..[+] A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change. [-]
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
apolipoprotein A-IV associated amyloidosis	AApoAIV amyloidosis; renal AApoAIV amyloidosis;	An amyloidosis that is characterized by slowly pro..[+] An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. [-]
apolipoprotein C-III deficiency	HALP2; hyperalphalipoproteinemia 2;	A cholesterol-ester transfer protein deficiency ch..[+] A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. [-]
apparent mineralocorticoid excess syndrome	syndrome of apparent mineralocorticoid excess (dis.. [+] syndrome of apparent mineralocorticoid excess (disorder); 11-beta-hydroxysteroid dehydrogenase deficiency type 2; cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid excess; Ulick syndrome; [-]	A steroid inherited metabolic disorder characteriz..[+] A steroid inherited metabolic disorder 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. [-]
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	neoplasm of appendix (disorder); appendix neoplasm.. [+] neoplasm of appendix (disorder); appendix neoplasm; neoplasm of appendix; [-]	n_a
appendicitis	acute appendicitis with generalized peritonitis (d.. [+] acute appendicitis with generalized peritonitis (disorder); acute appendicitis with peritoneal abscess (disorder); acute appendicitis; acute appendicitis with generalized peritonitis; acute appendicitis with peritoneal abscess; [-]	An appendix disease that involves inflammation and..[+] An appendix 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	malignant tumor of appendix (disorder); cancer of .. [+] malignant tumor of appendix (disorder); cancer of the appendix; malignant neoplasm of appendix vermiformis; malignant tumor of the appendix; malignant tumor of 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 disease		A gastrointestinal system disease that is located_..[+] A gastrointestinal system disease that is located_in the appendix. [-]
appendix leiomyoma	Appendiceal leiomyoma;	A gastrointestinal system benign neoplasm that der..[+] A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix. [-]
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. [-]
APP-related cerebral amyloid angiopathy	Amyloidosis, Cerebroarterial, App-Related; Amyloid.. [+] Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Arctic Variant; Cerebral Amyloid Angiopathy, App-Related, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Flemish Variant; Cerebral Amyloid Angiopathy, App-Related, Iowa Variant; Cerebral Amyloid Angiopathy, App-Related, Italian Variant; HCHWAD; [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. [-]
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
Arboleda-Tham syndrome	MRD32; ARTHS; autosomal dominant intellectual disa.. [+] MRD32; ARTHS; autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; autosomal dominant mental retardation 32; autosomal dominant non-syndromic intellectual disability 32; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. [-]
ARC syndrome	Arthrogryposis, renal dysfunction and cholestasis .. [+] Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome; ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; Arthrogryposis-renal dysfunction-cholestasis; [-]	A syndrome that is characterized by congenital joi..[+] A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. [-]
arcus senilis	Arcus of cornea; corneal arcus;	n_a
Arenaviridae infectious disease		A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. [-]
Argentine hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. [-]
argininosuccinic aciduria	Argininosuccinate lyase deficiency (disorder); def.. [+] Argininosuccinate lyase deficiency (disorder); deficiency of argininosuccinate lyase (disorder); argininosuccinic acidemia; arginosuccinase deficiency; Argininosuccinate lyase deficiency; deficiency of argininosuccinate lyase; [-]	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. [-]
Argyll Robertson pupil	Argyll Robertson pupil, atypical; Atypical Argyll-.. [+] Argyll Robertson pupil, atypical; Atypical Argyll-Robertson pupil; Argyll Robertson phenomenon or pupil, nonsyphilitic; [-]	An abnormal pupillary function characterized by a ..[+] An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. [-]
Armfield syndrome	Armfield X-linked mental retardation syndrome; men.. [+] Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Armfield type; MRXSA; syndromic X-linked mental retardation Armfield type; X-linked intellectual disability, Armfield type; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. [-]
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 that is characteri..[+] An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. [-]
arrhythmogenic biventricular cardiomyopathy	biventricular ACM;	An intrinsic cardiomyopathy characterized by hypok..[+] An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. [-]
arrhythmogenic left ventricular cardiomyopathy	ALVC; left ventricular ACM; left-dominant arrhythm.. [+] ALVC; left ventricular ACM; left-dominant arrhythmogenic cardiomyopathy; [-]	An intrinsic cardiomyopathy characterized by hypok..[+] An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. [-]
arrhythmogenic right ventricular cardiomyopathy	arrhythmogenic right ventricular dysplasia/cardiom.. [+] arrhythmogenic right ventricular dysplasia/cardiomyopathy; ARVC; ARVC cardiomyopathy; ARVD; arrhythmogenic right ventricular dysplasia; right ventricular ACM; [-]	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 and limited or no involvement of the left ventricle. [-]
arrhythmogenic right ventricular dysplasia 1	ARVD1; familial arrhythmogenic right ventricular d.. [+] ARVD1; familial arrhythmogenic right ventricular dysplasia 1; arrhythmogenic right ventricular cardiomyopathy 1; ARVC1; 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. [-]

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