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Disease	Synonyms	Description	Articles	Phenotypes
exotropia	Divergent concomitant strabismus; Divergent Strabi.. [+] Divergent concomitant strabismus; Divergent Strabismus [-]	n_a
transvestism	Dual-role transvestism; cross dresser; Transvestic.. [+] Dual-role transvestism; cross dresser; Transvestic fetishism; Fetishistic transvestism (disorder); Fetishistic transvestism [-]	n_a
capillary disease	disease of capillaries	A vascular disease that is located_in the capillar..[+] A vascular disease that is located_in the capillaries. [-]
ocular motility disease	disorder of eye movements; eye movement disorder	n_a
cardiovascular system disease	disease of subdivision of hemolymphoid system	A disease of anatomical entity which occurs in the..[+] A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. [-]	144 articles	79 matches
neurodegenerative disease	degenerative disease; Neurodegenerative disease	A central nervous system disease that results in t..[+] A central nervous system disease that results in the progressive deterioration of function or structure of neurons. [-]	89 articles	28 matches
paranasal sinus disease	disorder of nasal sinus	n_a	1 articles
candidiasis	Disseminated candidiasis; systemic candidiasis	An opportunistic mycosis that involves fungal infe..[+] An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. [-]
cecal disease	disorder of cecum; disorder of cecum (disorder)	An intestinal disease located_in the cecum.
pleural disease	disorder of pleura; non-neoplastic pleural disease.. [+] disorder of pleura; non-neoplastic pleural disease [-]	A thoracic disease which may involve inflammation ..[+] A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. [-]
breast duct papilloma	duct papilloma of breast; duct papilloma of breast.. [+] duct papilloma of breast; duct papilloma of breast (disorder); papilloma of the breast [-]	An intraductal papillary breast neoplasm that is h..[+] An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. [-]
intraductal papilloma	ductal papilloma; Intraductal papilloma (morpholog.. [+] ductal papilloma; Intraductal papilloma (morphologic abnormality) [-]	n_a
ichthyosis vulgaris	Dominant congenital ichthyosiform erythroderma; Do.. [+] Dominant congenital ichthyosiform erythroderma; Dominant congenital ichthyosiform erythroderma (disorder) [-]	An ichthyosis that has_material_basis_in heterozyg..[+] An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. [-]
malignant mesothelioma	Diffuse malignant Mesothelioma; advanced malignant.. [+] Diffuse malignant Mesothelioma; advanced malignant mesothelioma; asbestos-related malignant mesothelioma; malignant tumor of Mesothelium [-]	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. [-]
optic nerve disease	disorder of the second nerve; optic nerve disorder.. [+] disorder of the second nerve; optic nerve disorder; optic neuropathy [-]	A cranial nerve disease that is located_in the opt..[+] A cranial nerve disease that is located_in the optic nerve. [-]	1 articles
Lesch-Nyhan syndrome	deficiency of IMP pyrophosphorylase; HG-PRT defici.. [+] 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]; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency; X-linked hyperuricemia; Hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch - Nyhan syndrome [-]	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 hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26. [-]
Coffin-Siris syndrome	Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Sh.. [+] Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Short Stature-Onychodysplasia. [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. [-]	2 articles	6 matches
hepatitis D	delta hepatitis	A viral infectious disease that results_in inflamm..[+] A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. [-]
factor XIII deficiency	deficiency, Laki-Lorand factor; Factor XIII defici.. [+] deficiency, Laki-Lorand factor; Factor XIII deficiency disease (disorder); Hereditary factor XIII deficiency disease (disorder); Factor XIII deficiency disease; Hereditary factor XIII deficiency disease [-]	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. [-]
factor VII deficiency	deficiency, stable; Factor VII deficiency; Factor .. [+] deficiency, stable; Factor VII deficiency; Factor VII deficiency (disorder) [-]	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. [-]
factor V deficiency	deficiency, labile; Hereditary hypoproaccelerinaem.. [+] deficiency, labile; Hereditary hypoproaccelerinaemia; Labile factor deficiency; Proaccelerin deficiency [-]	n_a
Glanzmann's thrombasthenia	deficiency of GP IIb-IIIa complex; deficiency of g.. [+] deficiency of GP IIb-IIIa complex; deficiency of glycoprotein complex IIb-IIIa; deficiency of platelet fibrinogen receptor; BDPLT2; Glycoprotein IIb/IIIa defect; thrombasthenia of Glanzmann and Naegeli; Thrombocytasthenia; platelet glycoprotein IIb-IIIa deficiency; Glanzmann thrombasthenia; platelet-type bleeding disorder 2 [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. [-]
factor X deficiency	disease, Stuart-Prower; Factor X deficiency (disor.. [+] disease, Stuart-Prower; Factor X deficiency (disorder); Factor X deficiency [-]	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. [-]
platelet storage pool deficiency	Dense body defect (disorder); Dense body defect; P.. [+] Dense body defect; Dense body defect (disorder); Platelet dense granule deficiency (disorder); Platelet storage pool defect; Platelet dense granule deficiency [-]	n_a
factor XII deficiency	deficiency, Hageman; Hageman Factor deficiency; Fa.. [+] deficiency, Hageman; Hageman Factor deficiency; Factor XII deficiency disease [-]	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. [-]
iron metabolism disease	disorder of iron metabolism; disorder of iron meta.. [+] disorder of iron metabolism; disorder of iron metabolism NOS (disorder); disorder of iron metabolism (disorder); Iron disorder; iron disorder [-]	n_a
hemochromatosis	diabetes bronze; Haemochromatosis; iron storage di.. [+] diabetes bronze; Haemochromatosis; iron storage disorder [-]	A metal metabolism disorder characterized by the a..[+] A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. [-]	2 articles
phosphorus metabolism disease	disorder of phosphorus metabolism; disorder of pho.. [+] disorder of phosphorus metabolism; disorder of phosphorus metabolism (disorder); disorder of phosphorus metabolism NOS (disorder); Phosphorus disorder; phosphorus metabolism disorder [-]	n_a	3 articles
testicular disease	disorder of testis; testis disorder	n_a
splenic disease	Dyssplenism; Spleen disease	n_a	1 articles
suppurative periapical periodontitis	Dentoalveolar abscess; Apical abscess; Suppurative.. [+] Dentoalveolar abscess; Apical abscess; Suppurative apical periodontitis; Periapical abscess (disorder); Periapical abscess [-]	n_a
acatalasia	deficiency of catalase; deficiency of catalase (di.. [+] deficiency of catalase; deficiency of catalase (disorder); acatalasemia [-]	A peroxisomal disease characterized by loss of cat..[+] A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. [-]
pigmented villonodular synovitis	Diffuse Giant cell tumor of Tenosynovium; villous .. [+] Diffuse Giant cell tumor of Tenosynovium; villous tenosynovitis [-]	n_a
keratosis follicularis	DARIER-WHITE DISEASE; Darier's disease; Keratosis .. [+] Darier's disease; DARIER-WHITE DISEASE; Keratosis follicularis (disorder); Keratosis follicularis [-]	n_a
glycogen storage disease III	deficiency of debranching enzyme; deficiency of de.. [+] deficiency of debranching enzyme; deficiency of dextrin; Glycogen storage disease, type III (disorder); amylo 1,6 glucosidase deficiency; Glycogen storage disease, type III; 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 Ia	deficiency of glucose-6-phosphatase; Glycogen stor.. [+] deficiency of glucose-6-phosphatase; Glycogen storage disease, type I (disorder); glycogenosis type I; von Gierke's disease; glycogen storage disease type I; von Gierke disease; Glycogen storage disease, type I [-]	A glycogen storage disease I that has_material_bas..[+] A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. [-]
glycogen storage disease IV	deficiency of 1,4-alpha-glucan branching enzyme; A.. [+] deficiency of 1,4-alpha-glucan branching enzyme; Amylopectinosis; Branching-transferase deficiency glycogenosis (disorder); 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	deficiency of maltase; deficiency of glucoamylase; .. [+] deficiency of glucoamylase; deficiency of maltase; acid maltase deficiency; 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; 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. [-]
contact dermatitis	Dermatitis, venenata NOS; Dermatitis, venenata; de.. [+] Dermatitis, venenata; Dermatitis, venenata NOS; dermatitis venenata; Contact dermatitis NOS; Contact dermatitis NOS (disorder); Contact dermatitis (disorder); Contact dermatitis/eczema; Contact eczema; Contact dermatitis [-]	n_a	1 articles
idiopathic interstitial pneumonia	Diffuse idiopathic pulmonary fibrosis; Idiopathic .. [+] Diffuse idiopathic pulmonary fibrosis; Idiopathic fibrosing alveolitis; IPF [-]	A pneumonia located_in the lung parenchyma of unkn..[+] A pneumonia located_in the lung parenchyma of unknown cause. [-]	1 articles
nose disease	disorder of the nose; disorder of the nose (disord.. [+] disorder of the nose; disorder of the nose (disorder); nasal disorder [-]	n_a	2 articles	3 matches
glucosephosphate dehydrogenase deficiency	deficiency of G-6PD; Glucose-6-phosphate dehydroge.. [+] deficiency of G-6PD; Glucose-6-phosphate dehydrogenase deficiency [-]	A carbohydrate metabolic disorder that is characte..[+] A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). [-]
carbohydrate metabolic disorder	disorder of carbohydrate transport and metabolism; .. [+] disorder of carbohydrate transport and metabolism; inborn carbohydrate metabolism disorder; inborn errors of carbohydrate metabolism [-]	An inherited metabolic disorder that affect the ca..[+] An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. [-]	33 articles
breast ductal carcinoma	duct carcinoma; duct carcinoma, NOS	A breast carcinoma that derives_from the lining of..[+] A breast carcinoma that derives_from the lining of milk ducts. [-]	1 articles
invasive ductal carcinoma	ductal adenocarcinoma; Invasive ductal carcinoma, .. [+] ductal adenocarcinoma; Invasive ductal carcinoma, NST; Infiltrating ductal carcinoma of breast [-]	A breast ductal carcinoma that is characterized by..[+] A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. [-]	1 articles
Balkan nephropathy	Danubian endemic familial nephropathy; DEFN; Balka.. [+] DEFN; Danubian endemic familial nephropathy; Balkan endemic nephropathy [-]	An interstitial nephritis endemic to the regions a..[+] An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. [-]
gastrointestinal system cancer	digestive system cancer; gastrointestinal tract ca.. [+] digestive system cancer; gastrointestinal tract cancer; GI tumor [-]	An organ system cancer located_in gastrointestinal..[+] An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. [-]	14 articles
scalp dermatosis	Dermatosis of scalp; Dermatosis of scalp (disorder.. [+] Dermatosis of scalp; Dermatosis of scalp (disorder) [-]	n_a
lipid metabolism disorder	dyslipidemia; fatty acid metabolism disorder	An inherited metabolic disorder that involves the ..[+] An inherited metabolic disorder that involves the creation and degradation of lipids. [-]	4 articles
malignant spindle cell melanoma	desmoplastic melanoma; spindle cell melanoma NOS (.. [+] desmoplastic melanoma; spindle cell melanoma NOS (morphologic abnormality); Spitzoid malignant melanoma; spindle cell malignant melanoma; spindle cell melanoma [-]	A melanoma that is composed of spindled neoplastic..[+] A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. [-]

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