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Disease	Synonyms	Description
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	hypermethioninemia due to S-adenosylhomocysteine h.. [+] hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency; psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. [-]
hyperphosphatemic familial tumoral calcinosis	hyperphosphatemia tumoral calcinosis; hyperphospha.. [+] hyperphosphatemia tumoral calcinosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia hyperostosis; hyperostosis with hyperphosphatemia; hypercalcemic tumoral calcinosis; HHS; HFTC; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
hyaline body myopathy	myosin storage myopathy	A congenital myopathy characterized by accumulatio..[+] A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. [-]
hydrolethalus syndrome 2	HLS2	A hydrolethalus syndrome that has_material_basis_i..[+] A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. [-]
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	hypotrichosis-lymphedema-telangiectasia-membranopr.. [+] hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; HLTRS; HLT-renal defect syndrome; glomerulonephritis with sparse hair and telangiectases; telangiectatic membranoproliferative glomerulonephritis [-]	A syndrome characterized by onset in childhood of ..[+] A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. [-]
hereditary mixed polyposis syndrome 2	HMPS2	A hereditary mixed polyposis syndrome that has_mat..[+] A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. [-]
homocystinuria-megaloblastic anemia cblG type	homocystinuria-megaloblastic anemia, cblG compleme.. [+] homocystinuria-megaloblastic anemia, cblG complementation type; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type; HMAG; methylcobalamin deficiency, cblG type [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. [-]
hereditary spastic paraplegia 79B	autosomal recessive spastic paraplegia 79B; early-.. [+] autosomal recessive spastic paraplegia 79B; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; spastic paraplegia 79 autosomal recessive; SPG79B [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]
vascular cancer	Haemangiomatous tumour; Blood Vessel neoplasm; blo.. [+] Haemangiomatous tumour; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumors (morphologic abnormality); Blood vessel tumour disorder; leiomyosarcoma of the renal Vein; malignant great vessel tumor; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; neoplasm of great vessel; pulmonary artery malignant neoplasm; pulmonary vein malignant neoplasm; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors [-]	A cardiovascular cancer that is located_in blood v..[+] A cardiovascular cancer that is located_in blood vessels. [-]
kidney hemangiopericytoma	hemangiopericytoma of kidney (disorder); renal hem.. [+] 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; angiosarcoma of liver (disorder) [-]	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
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. [-]
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. [-]
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 labyrinth, bilateral; Hypoactive bilate.. [+] Hypoactive labyrinth, bilateral; Hypoactive bilateral labyrinthine dysfunction (disorder); Bilateral hypoactive labyrinth (disorder) [-]	n_a
congenital hemolytic anemia	hereditary hemolytic anemia	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. [-]
scrotal angioma	hemangioma of scrotum	n_a
splenic manifestation of hairy cell leukemia	hairy cell leukemia of spleen	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	helminth infection; helminthiasis; helminthosis; w.. [+] helminthosis; helminthiasis; helminth infection; 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; Cerebral pseudoscle.. [+] hepatolenticular degeneration; Cerebral pseudosclerosis; Westphal pseudosclerosis; Westphal-Strumpell syndrome; Wilson's disease [-]	n_a
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. [-]
palindromic rheumatism	Hench-Rosenberg syndrome; Hench's syndrome	A syndrome that involves sudden and rapidly develo..[+] A syndrome 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
allergic hypersensitivity disease	hypersensitivity reaction type I disease; hypersen.. [+] hypersensitivity reaction type I disease; hypersensitivity; allergic disease; allergy [-]	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. [-]
ocular hyperemia	hyperemia of conjunctiva; hyperEMIA eye	n_a
atrophic glossitis	Hunter's glossitis; Atrophy of tongue papillae; Gl.. [+] Hunter's glossitis; Atrophy of tongue papillae; Glossitis, Hunter's; smooth atrophic tongue [-]	n_a
echinococcosis	hydatid disease; hydatidosis; hepatic echinococcos.. [+] hydatidosis; hydatid disease; hepatic echinococcosis; echinococcal disease; Echinococcosis of liver (disorder); Echinococcosis, unspecified, of liver; Echinococcosis, unspecified, of liver (disorder); Liver echinococcus unspecified (disorder); pulmonary echinococcosis; 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 Malformation; Heart-congenital defect; heart.. [+] Heart-congenital defect; Heart Malformation; heart defect; Congenital anomaly of heart; congenital heart defect; Congenital Heart Defects [-]	n_a
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 (d.. [+] hyperactive unilateral labyrinthine dysfunction (disorder); hyperactive labyrinth, unilateral; Unilateral hyperactive labyrinth (disorder) [-]	n_a
angiosarcoma	hemangiosarcoma	A malignant Vascular tumor that results_in rapidly..[+] A malignant Vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derives_from blood vessels and derived_from the lining of irregular blood-filled spaces. [-]
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) [-]	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; infantile embryonal carc.. [+] Hepatoid yolk sac tumour; infantile embryonal carcinoma; Yolk Sac neoplasm; Yolk sac tumor; endodermal sinus tumour; yolk sac tumor; Yolk sac tumour [-]	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 (& [Lesch - Nyhan syndrome]); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); hypoxanthine guanine phosphoribosyltransferase deficiency; HG-PRT deficiency; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; deficiency of IMP pyrophosphorylase; Lesch - Nyhan syndrome; Lesch-Nyhan syndrome (disorder); X-linked hyperuricemia (disorder) [Ambiguous] [-]	n_a
Klinefelter's syndrome	Hypogonadotropic Hypogonadism; Klinefelter syndrom.. [+] Hypogonadotropic Hypogonadism; Klinefelter syndrome; XXY syndrome; XXY trisomy [-]	n_a
Angelman syndrome	happy puppet syndrome; puppetlike syndrome	n_a
factor XIII deficiency	Hereditary factor XIII deficiency disease; Heredit.. [+] Hereditary factor XIII deficiency disease; Hereditary factor XIII deficiency disease (disorder); deficiency, Laki-Lorand factor; Factor XIII deficiency disease (disorder); 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 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; Giant platelet syndrome (disorder); Thrombopathy, Bernard-Soulier; 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	hereditary thrombocythemia; hemorrhagic thrombocyt.. [+] hereditary thrombocythemia; hemorrhagic thrombocythemia; Essential thrombocythaemia; familial thrombocytosis; primary Thrombocytosis [-]	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. [-]

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