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Disease	Synonyms	Description
breast duct papilloma	duct papilloma of breast (disorder); papilloma of .. [+] duct papilloma of breast (disorder); papilloma of the breast [-]	n_a
intraductal papilloma	ductal papilloma; Intraductal papilloma (morpholog.. [+] ductal papilloma; Intraductal papilloma (morphologic abnormality) [-]	n_a
ichthyosis vulgaris	Dominant congenital ichthyosiform erythroderma (di.. [+] Dominant congenital ichthyosiform erythroderma (disorder) [-]	n_a
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. [-]
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. [-]
Lesch-Nyhan syndrome	deficiency of IMP pyrophosphorylase; Complete hypo.. [+] deficiency of IMP pyrophosphorylase; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; HG-PRT deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch - Nyhan syndrome; Lesch-Nyhan syndrome (disorder); X-linked hyperuricemia (disorder) [Ambiguous] [-]	n_a
sex differentiation disease	disorder of sexual differentiation (disorder); sex.. [+] disorder of sexual differentiation (disorder); sex differentiation disorder [-]	n_a
Coffin-Siris syndrome	Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Sh.. [+] Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Short Stature-Onychodysplasia. [-]	A genetic disease that is characterized by underde..[+] A genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability. [-]
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) [-]	n_a
factor V deficiency	deficiency, labile; Hereditary hypoproaccelerinaem.. [+] deficiency, labile; Hereditary hypoproaccelerinaemia; Labile factor deficiency; Proaccelerin deficiency [-]	n_a
Glanzmann's thrombasthenia	deficiency of platelet fibrinogen receptor; defici.. [+] deficiency of platelet fibrinogen receptor; deficiency of GP IIb-IIIa complex; deficiency of glycoprotein complex IIb-IIIa; BDPLT2; Glanzmann thrombasthenia; Glycoprotein IIb/IIIa defect; platelet glycoprotein IIb-IIIa deficiency; platelet-type bleeding disorder 2; thrombasthenia of Glanzmann and Naegeli; Thrombocytasthenia [-]	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) [-]	n_a
platelet storage pool deficiency	Dense body defect (disorder); Platelet dense granu.. [+] Dense body defect (disorder); Platelet dense granule deficiency (disorder); Platelet storage pool defect [-]	n_a
factor XII deficiency	deficiency, Hageman; Factor XII deficiency disease.. [+] deficiency, Hageman; Factor XII deficiency disease; Hageman Factor deficiency [-]	n_a
iron metabolism disease	disorder of iron metabolism NOS (disorder); disord.. [+] disorder of iron metabolism NOS (disorder); disorder of iron metabolism (disorder); disorder of iron metabolism; 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. [-]
phosphorus metabolism disease	disorder of phosphorus metabolism NOS (disorder); .. [+] disorder of phosphorus metabolism NOS (disorder); disorder of phosphorus metabolism (disorder); disorder of phosphorus metabolism; Phosphorus disorder; phosphorus metabolism disorder [-]	n_a
testicular disease	disorder of testis; testis disorder	n_a
splenic disease	Dyssplenism; Spleen disease	n_a
suppurative periapical periodontitis	Dentoalveolar abscess; Apical abscess; Periapical .. [+] Dentoalveolar abscess; Apical abscess; Periapical abscess (disorder); Suppurative apical periodontitis [-]	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's disease; DARIER-WHITE DISEASE; Keratosis .. [+] DARIER-WHITE DISEASE; Darier's disease; Keratosis follicularis (disorder) [-]	n_a
glycogen storage disease III	deficiency of dextrin; deficiency of debranching e.. [+] deficiency of dextrin; deficiency of debranching enzyme; amylo 1,6 glucosidase deficiency; Glycogen storage disease, type III (disorder); Glycogen storage disease 3; Glycogen storage disease, type III [-]	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 I	deficiency of glucose-6-phosphatase; glycogen stor.. [+] deficiency of glucose-6-phosphatase; glycogen storage disease type I; Glycogen storage disease, type I (disorder); glycogenosis type I; von Gierke disease; von Gierke's disease [-]	A glycogen storage disease that has_material_basis..[+] A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. [-]
glycogen storage disease IV	deficiency of 1,4-alpha-glucan branching enzyme; A.. [+] deficiency of 1,4-alpha-glucan branching enzyme; Amylopectinosis; brancher deficiency glycogenosis; Branching-transferase deficiency glycogenosis (disorder); Glycogen storage disease, type IV (disorder) [-]	n_a
glycogen storage disease II	deficiency of glucoamylase; deficiency of maltase; .. [+] deficiency of maltase; deficiency of glucoamylase; acid maltase deficiency; Generalized glycogenosis (disorder); glycogen storage disease type II; Glycogen storage disease, type II (disorder); Glycogenosis, type 2; Lysosomal alpha-1,4-glucosidase deficiency (disorder); Pompe's disease [-]	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; Dermatitis, venenata NOS; Con.. [+] Dermatitis, venenata NOS; dermatitis venenata; Contact dermatitis (disorder); Contact dermatitis NOS; Contact dermatitis NOS (disorder); Contact dermatitis/eczema; Contact eczema [-]	n_a
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. [-]
nose disease	disorder of the nose (disorder); nasal disorder	n_a
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 characterised 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. [-]
breast ductal carcinoma	duct carcinoma, NOS	A breast carcinoma that derives_from the lining of..[+] A breast carcinoma that derives_from the lining of milk ducts. [-]
invasive ductal carcinoma	ductal adenocarcinoma; Infiltrating ductal carcino.. [+] ductal adenocarcinoma; Infiltrating ductal carcinoma of breast; Invasive ductal carcinoma, NST [-]	n_a
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. [-]
scalp dermatosis	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. [-]
malignant spindle cell melanoma	desmoplastic melanoma; spindle cell malignant mela.. [+] desmoplastic melanoma; spindle cell malignant melanoma; spindle cell melanoma; spindle cell melanoma NOS (morphologic abnormality); Spitzoid malignant melanoma [-]	A melanoma that is most commonly located_in sun-ex..[+] A melanoma that is most commonly located_in sun-exposed skin and results_in_formation_ of spindle-like shaped cells that have a high recurrence rate even with treatment. [-]
Pelizaeus-Merzbacher disease	diffuse familial brain sclerosis; HLD1; hypomyelin.. [+] diffuse familial brain sclerosis; HLD1; hypomyelinating leukodystrophy 1; Leukodystrophy, sudanophilic; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; PMD; sudanophilic leukodystrophy, Paelizeus-Merzbacher type [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. [-]
lysosomal storage disease	disorder of lysosomal enzyme (disorder); inborn ly.. [+] disorder of lysosomal enzyme (disorder); inborn lysosomal enzyme disorder; lysosomal storage metabolism disorder [-]	An inherited metabolic disorder that involve an ab..[+] An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. [-]
bipolar disorder	Depressive-manic psych.; bipolar depression; bipol.. [+] Depressive-manic psych.; bipolar depression; bipolar disorder manic phase; Manic Bipolar Affective disorder; Manic bipolar I disorder; manic depression; Manic Depressive disorder; manic disorder; mixed bipolar disorder [-]	A mood disorder that involves alternating periods ..[+] A mood disorder that involves alternating periods of mania and depression. [-]
Tay-Sachs disease	disease, Tay-Sachs; hexosaminidase A deficiency; T.. [+] disease, Tay-Sachs; hexosaminidase A deficiency; Tay-Sachs disease (disorder) [-]	n_a
gangliosidosis GM1	deficiency of beta-galactosidase (disorder); Beta-.. [+] deficiency of beta-galactosidase (disorder); Beta-galactosidase deficiency; beta-Galactosidase deficiency; GM1 gangliosidosis (disorder); GM>1< gangliosidosis (disorder); Landing syndrome [-]	n_a
periodontal disease	disease of supporting structures of teeth; disease.. [+] disease of supporting structures of teeth; disease of supporting structures of teeth, NOS; Periodontal disease; Periodontal disease (disorder); periodontium disorder [-]	A mouth disease that is relating to or affecting t..[+] A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. [-]
carotid artery disease	disorder of carotid artery (disorder)	n_a
alpha-mannosidosis	deficiency of alpha-mannosidase (disorder); Alpha-.. [+] deficiency of alpha-mannosidase (disorder); Alpha-D-mannosidosis; alpha-mannosidase deficiency [-]	A lysosomal storage disease that has_material_basi..[+] A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. [-]
inclusion body myositis	Distal myopathy, Nonaka type; Distal Myopathy with.. [+] Distal myopathy, Nonaka type; Distal Myopathy with Rimmed Vacuoles (DMRV); Hereditary Inclusion Body Myopathy; HIBM; IBM-3; IBM2; inclusion body myopathy 2; inclusion body myopathy 3; Nonaka Myopathy; Nonaka myopathy [-]	A myositis that is characterized by late onset of ..[+] A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. [-]

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