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Disease	Synonyms	Description	Articles	Phenotypes
hereditary spastic paraplegia 84	spastic paraplegia 84 autosomal recessive; SPG84	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. [-]
hereditary spastic paraplegia 78	spastic paraplegia 78 autosomal recessive; SPG78	A hereditary spastic paraplegia characterized pred..[+] A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. [-]
hereditary spastic paraplegia 81	autosomal recessive complex spastic paraplegia due.. [+] autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; autosomal recessive complex SPG due to Kennedy pathway dysfunction; spastic paraplegia 81 autosomal recessive; SPG81 [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. [-]
vascular cancer	Haemangiomatous tumour; Blood Vessel neoplasm; blo.. [+] Haemangiomatous tumour; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumour disorder; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors; Blood vessel tumors (morphologic abnormality); pulmonary artery malignant neoplasm; leiomyosarcoma of the renal Vein; pulmonary vein malignant neoplasm; Blood vessel tumors; Blood vessel tumor; malignant great vessel tumor; neoplasm of great vessel [-]	A cardiovascular cancer that is located_in blood v..[+] A cardiovascular cancer that is located_in blood vessels. [-]
kidney hemangiopericytoma	hemangiopericytoma of kidney; hemangiopericytoma o.. [+] hemangiopericytoma of kidney; hemangiopericytoma of kidney (disorder); renal hemangiopericytoma [-]	A kidney cancer which is manifested in the kidney.
liver angiosarcoma	hemangiosarcoma of the Liver; angiosarcoma of live.. [+] hemangiosarcoma of the Liver; angiosarcoma of liver (disorder); angiosarcoma of liver [-]	An angiosarcoma and sarcoma of liver and hemangiom..[+] An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. [-]
liver sarcoma	hepatic sarcoma	A sarcoma and malignant non-epithelial hepatic and..[+] A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. [-]
gastric hemangioma	hemangioma of stomach	n_a
tropical spastic paraparesis	HTLV-associated myelopathy; Tropical spastic paral.. [+] HTLV-associated myelopathy; Tropical spastic paralysis; Tropical spastic paraplegia [-]	A viral infectious disease that results in inflamm..[+] A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. [-]
liver disease	hepatic disorder; disorder of liver (disorder); di.. [+] hepatic disorder; disorder of liver (disorder); disorder of liver [-]	n_a	9 articles	3 matches
autoimmune disease	hypersensitivity reaction type II disease; autoimm.. [+] hypersensitivity reaction type II disease; autoimmune disease; autoimmune hypersensitivity disease [-]	An immune system disease that is an overactive imm..[+] An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. [-]	26 articles	12 matches
primary hyperaldosteronism	hyperaldosteronism; Cushing syndrome; Cushing's sy.. [+] hyperaldosteronism; Cushing syndrome; Cushing's syndrome [-]	An adrenal gland hyperfunction disease that result..[+] An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. [-]	2 articles
subglottic angioma	hemangioma of the Subglottis	n_a
breast hemangioma	hemangioma of breast; Angioma of the breast	A breast benign neoplasm that is characterized by ..[+] A breast benign neoplasm that is characterized by a collection of excess blood vessels. [-]
central nervous system hemangioma	hemangioma of CNS	n_a
bilateral hypoactive labyrinth	Hypoactive bilateral labyrinthine dysfunction; Hyp.. [+] Hypoactive bilateral labyrinthine dysfunction; Hypoactive labyrinth, bilateral; Hypoactive bilateral labyrinthine dysfunction (disorder); Bilateral hypoactive labyrinth (disorder); Bilateral hypoactive labyrinth [-]	n_a
congenital hemolytic anemia	hereditary hemolytic anemia; hereditary hemolytic .. [+] hereditary hemolytic anemia; hereditary hemolytic anaemia; congenital hemolytic anaemia [-]	n_a
primary immunodeficiency disease	hypoimmunity; immune deficiency disorder; immunode.. [+] hypoimmunity; immune deficiency disorder; immunodeficiency syndrome [-]	An immune system disease that results when one or ..[+] An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. [-]	26 articles	12 matches
scrotal angioma	hemangioma of scrotum	n_a
splenic manifestation of hairy cell leukemia	hairy cell leukaemia of spleen; hairy cell leukemi.. [+] hairy cell leukaemia of spleen; hairy cell leukemia of spleen; splenic manifestation of hairy cell leukaemia [-]	n_a
ocular hypotension	Hypotony of eye	n_a
extrinsic allergic alveolitis	hypersensitivity pneumonitis; alveolitis	An interstitial lung disease involving inflammatio..[+] An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. [-]
parasitic helminthiasis infectious disease	helminthiasis; helminth infection; helminthosis; w.. [+] helminthosis; helminth infection; helminthiasis; worm infection [-]	A parasitic infectious disease that occurs when pa..[+] A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. [-]
Wilson disease	hepatolenticular degeneration; Westphal pseudoscle.. [+] hepatolenticular degeneration; Westphal pseudosclerosis; Westphal-Strumpell syndrome; Cerebral pseudosclerosis; Wilson's disease [-]	A metal metabolism disease that is characterized b..[+] A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. [-]
peliosis hepatis	hepatic peliosis	n_a
attention deficit hyperactivity disorder	hyperkinetic disorder; ADHD; attention deficit dis.. [+] hyperkinetic disorder; ADHD; attention deficit disorder [-]	A specific developmental disorder that is characte..[+] A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. [-]	2 articles
palindromic rheumatism	Hench's syndrome; Hench-Rosenberg syndrome	An arthritis that involves sudden and rapidly deve..[+] An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. [-]
familial hyperlipidemia	hyperlipemia; hyperlipidaemia; familial hyperlipop.. [+] hyperlipidaemia; hyperlipemia; familial hyperlipoproteinemia [-]	n_a	1 articles
allergic disease	hypersensitivity reaction type I disease; hypersen.. [+] hypersensitivity reaction type I disease; hypersensitivity; allergic disease; allergy; allergic hypersensitivity disease [-]	An immune system disease that is an exaggerated im..[+] An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. [-]	2 articles	3 matches
ocular hyperemia	hyperemia of conjunctiva; hyperEMIA eye	n_a
miliaria	heat rash; eccrine miliaria; sweat rash	A sweat gland disease that is characterized by blo..[+] A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. [-]
atrophic glossitis	Hunter's glossitis; Glossitis, Hunter's; Atrophy o.. [+] Hunter's glossitis; Glossitis, Hunter's; Atrophy of tongue papillae; smooth atrophic tongue [-]	n_a
echinococcosis	hydatid disease; hydatidosis; hepatic echinococcos.. [+] hydatidosis; hydatid disease; hepatic echinococcosis; Echinococcosis, unspecified, of liver (disorder); Liver echinococcus unspecified (disorder); Echinococcosis of liver (disorder); Echinococcosis, unspecified, of liver; pulmonary echinococcosis; echinococcal disease; Echinococcosis of liver; liver echinococcus [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. [-]
congenital heart disease	heart defect; Heart-congenital defect; Heart Malfo.. [+] Heart-congenital defect; heart defect; Heart Malformation; Congenital Heart Defects; congenital heart defect; Congenital anomaly of heart [-]	n_a	40 articles	77 matches
conversion disorder	Hysterical neurosis, conversion type; Conversion h.. [+] Hysterical neurosis, conversion type; Conversion hysteria or reaction; Conversion Hysterical Neurosis [-]	A somatoform disorder that involves numbness, blin..[+] A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. [-]
unilateral hyperactive labyrinth	hyperactive unilateral labyrinthine dysfunction; h.. [+] hyperactive unilateral labyrinthine dysfunction; hyperactive labyrinth, unilateral; hyperactive unilateral labyrinthine dysfunction (disorder); Unilateral hyperactive labyrinth (disorder); Unilateral hyperactive labyrinth [-]	n_a
angiosarcoma	hemangiosarcoma	A vascular cancer that derives_from the cells that..[+] A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. [-]
viral hepatitis	human viral hepatitis; animal viral hepatitis; Uns.. [+] human viral hepatitis; animal viral hepatitis; Unspecified viral hepatitis with hepatic coma; viral hepatitis with hepatic coma; Viral hepatitis with hepatic coma (disorder); Viral hepatitis with hepatic coma [-]	A hepatitis that involves viral infection causing ..[+] A hepatitis that involves viral infection causing inflammation of the liver. [-]
endodermal sinus tumor	Hepatoid yolk sac tumour; Yolk sac tumor; infantil.. [+] Hepatoid yolk sac tumour; Yolk sac tumor; infantile embryonal carcinoma; Yolk Sac neoplasm; Yolk sac tumour; endodermal sinus tumour; yolk sac tumor [-]	A germ cell cancer that has_material_basis_in cell..[+] A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. [-]
Lesch-Nyhan syndrome	Hypoxanthine-guanine phosphoribosyltransferase def.. [+] Hypoxanthine-guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); HG-PRT deficiency; deficiency of IMP pyrophosphorylase; Lesch-Nyhan syndrome (disorder); X-linked hyperuricemia (disorder) [Ambiguous]; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; X-linked hyperuricemia; 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. [-]
Klinefelter syndrome	Hypogonadotropic Hypogonadism; Klinefelter syndrom.. [+] Hypogonadotropic Hypogonadism; Klinefelter syndrome; XXY syndrome; XXY trisomy; 47, XXY; Klinefelter's syndrome [-]	A chromosomal duplication syndrome that is charact..[+] A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. [-]
Angelman syndrome	happy puppet syndrome; puppetlike syndrome	A syndrome that is characterized by delayed develo..[+] A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. [-]
factor XIII deficiency	Hereditary factor XIII deficiency disease; Heredit.. [+] Hereditary factor XIII deficiency disease; Hereditary factor XIII deficiency disease (disorder); Factor XIII deficiency disease (disorder); Factor XIII deficiency disease; deficiency, Laki-Lorand factor [-]	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 V deficiency	Hereditary hypoproaccelerinaemia; deficiency, labi.. [+] Hereditary hypoproaccelerinaemia; deficiency, labile; Labile factor deficiency; Proaccelerin deficiency [-]	n_a
Bernard-Soulier syndrome	Hemorrhagic dystrophic thrombocytopenia; Bernard -.. [+] Hemorrhagic dystrophic thrombocytopenia; Bernard - Soulier thrombopathy; Bernard Soulier syndrome; Thrombopathy, Bernard-Soulier; Giant platelet syndrome (disorder); Giant platelet syndrome [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. [-]
essential thrombocythemia	hemorrhagic thrombocythemia; hereditary thrombocyt.. [+] hemorrhagic thrombocythemia; hereditary thrombocythemia; familial thrombocytosis; primary Thrombocytosis; Essential thrombocythaemia [-]	A myeloproliferative neoplasm that is characterize..[+] A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. [-]
factor XI deficiency	hemophilia C; Hereditary factor XI deficiency dise.. [+] hemophilia C; Hereditary factor XI deficiency disease; plasma thromboplastin antecedent deficiency; Rosenthal's disease; Congenital factor XI deficiency [-]	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. [-]
factor XII deficiency	Hageman Factor deficiency; deficiency, Hageman; Fa.. [+] Hageman Factor deficiency; deficiency, Hageman; 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. [-]
prothrombin deficiency	Hereditary factor II deficiency disease; hypoproth.. [+] Hereditary factor II deficiency disease; hypoprothrombinemia; Factor II deficiency; Congenital factor II deficiency [-]	A thrombophilia that is characterized by bleeding ..[+] A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. [-]
thrombophilia	hypercoagulability state	A blood coagulation disease that is characterized ..[+] A blood coagulation disease that is characterized by an increased tendency to form clots. [-]

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