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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
congenital hemolytic anemia
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hereditary hemolytic anemia; hereditary hemolytic ..
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hereditary hemolytic anemia; hereditary hemolytic anaemia; congenital hemolytic anaemia
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n_a
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primary immunodeficiency disease
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hypoimmunity; immune deficiency disorder; immunode..
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hypoimmunity; immune deficiency disorder; immunodeficiency syndrome
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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.
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26 articles
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12 matches
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scrotal angioma
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hemangioma of scrotum
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n_a
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splenic manifestation of hairy cell leukemia
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hairy cell leukaemia of spleen; hairy cell leukemi..
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hairy cell leukaemia of spleen; hairy cell leukemia of spleen; splenic manifestation of hairy cell leukaemia
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n_a
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ocular hypotension
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Hypotony of eye
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n_a
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extrinsic allergic alveolitis
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hypersensitivity pneumonitis; alveolitis
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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.
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parasitic helminthiasis infectious disease
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helminthiasis; helminth infection; helminthosis; w..
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helminthosis; helminth infection; helminthiasis; worm infection
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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.
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Wilson disease
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hepatolenticular degeneration; Westphal pseudoscle..
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hepatolenticular degeneration; Westphal pseudosclerosis; Westphal-Strumpell syndrome; Cerebral pseudosclerosis; Wilson's disease
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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.
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peliosis hepatis
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hepatic peliosis
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n_a
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attention deficit hyperactivity disorder
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hyperkinetic disorder; ADHD; attention deficit dis..
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hyperkinetic disorder; ADHD; attention deficit disorder
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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.
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2 articles
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palindromic rheumatism
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Hench's syndrome; Hench-Rosenberg syndrome
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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.
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familial hyperlipidemia
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hyperlipemia; hyperlipidaemia; familial hyperlipop..
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hyperlipidaemia; hyperlipemia; familial hyperlipoproteinemia
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n_a
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1 articles
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allergic disease
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hypersensitivity reaction type I disease; hypersen..
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hypersensitivity reaction type I disease; hypersensitivity; allergic disease; allergy; allergic hypersensitivity disease
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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.
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2 articles
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3 matches
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ocular hyperemia
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hyperemia of conjunctiva; hyperEMIA eye
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n_a
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miliaria
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heat rash; eccrine miliaria; sweat rash
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A sweat gland disease that is characterized by blo.. [+]
A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts.
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atrophic glossitis
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Hunter's glossitis; Glossitis, Hunter's; Atrophy o..
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Hunter's glossitis; Glossitis, Hunter's; Atrophy of tongue papillae; smooth atrophic tongue
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n_a
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echinococcosis
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hydatid disease; hydatidosis; hepatic echinococcos..
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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
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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.
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congenital heart disease
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heart defect; Heart-congenital defect; Heart Malfo..
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Heart-congenital defect; heart defect; Heart Malformation; Congenital Heart Defects; congenital heart defect; Congenital anomaly of heart
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n_a
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40 articles
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77 matches
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conversion disorder
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Hysterical neurosis, conversion type; Conversion h..
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Hysterical neurosis, conversion type; Conversion hysteria or reaction; Conversion Hysterical Neurosis
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A somatoform disorder that involves numbness, blin.. [+]
A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause.
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unilateral hyperactive labyrinth
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hyperactive unilateral labyrinthine dysfunction; h..
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hyperactive unilateral labyrinthine dysfunction; hyperactive labyrinth, unilateral; hyperactive unilateral labyrinthine dysfunction (disorder); Unilateral hyperactive labyrinth (disorder); Unilateral hyperactive labyrinth
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n_a
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angiosarcoma
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hemangiosarcoma
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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.
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viral hepatitis
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human viral hepatitis; animal viral hepatitis; Uns..
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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
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A hepatitis that involves viral infection causing .. [+]
A hepatitis that involves viral infection causing inflammation of the liver.
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endodermal sinus tumor
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Hepatoid yolk sac tumour; Yolk sac tumor; infantil..
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Hepatoid yolk sac tumour; Yolk sac tumor; infantile embryonal carcinoma; Yolk Sac neoplasm; Yolk sac tumour; endodermal sinus tumour; yolk sac tumor
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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.
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Lesch-Nyhan syndrome
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Hypoxanthine-guanine phosphoribosyltransferase def..
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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
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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.
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Klinefelter syndrome
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Hypogonadotropic Hypogonadism; Klinefelter syndrom..
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Hypogonadotropic Hypogonadism; Klinefelter syndrome; XXY syndrome; XXY trisomy; 47, XXY; Klinefelter's syndrome
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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.
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Angelman syndrome
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happy puppet syndrome; puppetlike syndrome
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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.
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factor XIII deficiency
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Hereditary factor XIII deficiency disease; Heredit..
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Hereditary factor XIII deficiency disease; Hereditary factor XIII deficiency disease (disorder); Factor XIII deficiency disease (disorder); Factor XIII deficiency disease; deficiency, Laki-Lorand factor
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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.
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factor V deficiency
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Hereditary hypoproaccelerinaemia; deficiency, labi..
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Hereditary hypoproaccelerinaemia; deficiency, labile; Labile factor deficiency; Proaccelerin deficiency
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n_a
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Bernard-Soulier syndrome
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Hemorrhagic dystrophic thrombocytopenia; Bernard -..
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Hemorrhagic dystrophic thrombocytopenia; Bernard - Soulier thrombopathy; Bernard Soulier syndrome; Thrombopathy, Bernard-Soulier; Giant platelet syndrome (disorder); Giant platelet syndrome
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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.
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essential thrombocythemia
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hemorrhagic thrombocythemia; hereditary thrombocyt..
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hemorrhagic thrombocythemia; hereditary thrombocythemia; familial thrombocytosis; primary Thrombocytosis; Essential thrombocythaemia
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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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factor XI deficiency
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hemophilia C; Hereditary factor XI deficiency dise..
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hemophilia C; Hereditary factor XI deficiency disease; plasma thromboplastin antecedent deficiency; Rosenthal's disease; Congenital factor XI deficiency
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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.
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factor XII deficiency
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Hageman Factor deficiency; deficiency, Hageman; Fa..
[+]
Hageman Factor deficiency; deficiency, Hageman; Factor XII deficiency disease
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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.
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prothrombin deficiency
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Hereditary factor II deficiency disease; hypoproth..
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Hereditary factor II deficiency disease; hypoprothrombinemia; Factor II deficiency; Congenital factor II deficiency
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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.
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thrombophilia
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hypercoagulability state
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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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motor peripheral neuropathy
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HSMN - Hereditary sensory and motor neuropathy; HS..
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HSMN - Hereditary sensory and motor neuropathy; HSMN; Hereditary motor and sensory neuropathy; neuropathic muscular atrophy; Peripheral Motor Neuropathy
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A neuropathy that is characterized by inflammation.. [+]
A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves.
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intracranial structure hemangioma
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hemangioma of intracranial structure; hemangioma o..
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hemangioma of intracranial structure; hemangioma of intracranial structures (disorder); hemangioma of intracranial structures; hemangioma of intracranial structure (disorder); Angioma of intracranial Structure
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n_a
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Langerhans-cell histiocytosis
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Histiocytosis X; Langerhans cell granulomatosis; L..
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Histiocytosis X; Langerhans cell granulomatosis; Letterer-Siwe disease; Letterer-Siwe disease involving intra-abdominal lymph nodes; Letterer-Siwe disease involving intrapelvic lymph nodes; Letterer-Siwe disease involving lymph nodes of axilla and upper limb; Letterer-Siwe disease involving lymph nodes of head, face and neck; Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb; Letterer-Siwe disease involving lymph nodes of multiple sites; Letterer-Siwe disease involving spleen; Letterer-Siwe disease of intra-abdominal lymph nodes; Letterer-Siwe disease of intrapelvic lymph nodes; Letterer-Siwe disease of intrapelvic lymph nodes (disorder); Letterer-Siwe disease of intrathoracic lymph nodes; Letterer-Siwe disease of lymph nodes of axilla and upper limb (disorder); Letterer-Siwe disease of lymph nodes of axilla and/or upper limb; Letterer-Siwe disease of lymph nodes of head, face and neck (disorder); Letterer-Siwe disease of lymph nodes of head, face and/or neck (disorder); Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb; Letterer-Siwe disease of lymph nodes of inguinal region and lower limb (disorder); Letterer-Siwe disease of lymph nodes of multiple sites; Letterer-Siwe disease of lymph nodes of multiple sites (disorder); Letterer-Siwe disease of spleen; Letterer-Siwe disease of spleen (disorder); Langerhan's cell histiocytosis (disorder); Letterer-Siwe disease involving intrathoracic lymph nodes; Letterer-Siwe disease involving lymph nodes of head, face, and neck; Letterer-Siwe disease of intra-abdominal lymph nodes (disorder); Letterer-Siwe disease of intrathoracic lymph nodes (disorder); Letterer-Siwe disease of lymph nodes of axilla and/or upper limb (disorder); Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb (disorder); Langerhan's cell histiocytosis; Letterer-Siwe disease of lymph nodes of axilla and upper limb; Letterer-Siwe disease of lymph nodes of head, face and neck; Letterer-Siwe disease of lymph nodes of head, face and/or neck; Letterer-Siwe disease of lymph nodes of inguinal region and lower limb; Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb
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A histiocytosis that is characterized by clonal pr.. [+]
A histiocytosis that is characterized by clonal proliferation of Langerhans cells.
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agammaglobulinemia
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hypogammaglobulinemia; IGHM; mu heavy chain defici..
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hypogammaglobulinemia; IGHM; mu heavy chain deficiency
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A B cell deficiency that is caused by a reduction .. [+]
A B cell deficiency that is caused by a reduction in all types of gamma globulins.
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Gilbert syndrome
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hereditary nonhemolytic jaundice; Constitutional h..
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hereditary nonhemolytic jaundice; Constitutional hyperbilirubinemia; Gilbert's disease; Gilbert-Meulengracht syndrome; Gilbert's syndrome
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A bilirubin metabolic disorder that involves eleva.. [+]
A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
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bilirubin metabolic disorder
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hyperbilirubinaemia; hyperbilirubinemia; hereditar..
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hyperbilirubinemia; hyperbilirubinaemia; hereditary hyperbilirubinemia
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An inherited metabolic disorder that involves elev.. [+]
An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
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1 articles
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glycogen storage disease VIII
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hepatic glycogen phosphorylase kinase deficiency; ..
[+]
hepatic glycogen phosphorylase kinase deficiency; hepatic glycogen phosphorylase kinase deficiency (disorder); Glycogen storage disease type VIII (disorder); glycogenosis type VIII; glycogen storage disease type VIII; Glycogen storage disease type VIII; Glycogen storage disease 8
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A glycogen storage disease that is characterized h.. [+]
A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.
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glycogen storage disease VI
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hepatic glycogen phosphorylase deficiency; hepatic..
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hepatic glycogen phosphorylase deficiency; hepatic glycogen phosphorylase deficiency (disorder); Hers' disease; hepatophosphorylase deficiency glycogenosis; glycogen storage disease type VI; Glycogen storage disease 6
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A glycogen storage disease characterized by enlarg.. [+]
A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation.
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acute interstitial pneumonia
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Hamman-Rich syndrome; Hamman-Rich disease; acceler..
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Hamman-Rich disease; Hamman-Rich syndrome; accelerated interstitial pneumonia; acute interstitial pneumonitis; AIP; Idiopathic pulmonary fibrosis, acute fatal form
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A idiopathic interstitial pneumonia which develops.. [+]
A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure.
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congenital nonspherocytic hemolytic anemia
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hereditary nonspherocytic hemolytic anaemia; HNSHA..
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hereditary nonspherocytic hemolytic anaemia; HNSHA; hereditary nonspherocytic hemolytic anemia; congenital nonspherocytic hemolytic anaemia
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n_a
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Goldenhar syndrome
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HEMIFACIAL MICROSOMIA; Facio-auriculo-vertebral sp..
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HEMIFACIAL MICROSOMIA; Facio-auriculo-vertebral spectrum (disorder); First AND second branchial arch syndrome; First arch syndrome (disorder); Otomandibular dysostosis (disorder); OAV (oculoauriculovertebral) dysplasia; Facio-auriculo-vertebral spectrum; First arch syndrome; Otomandibular dysostosis
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A syndrome that is characterized by incomplete dev.. [+]
A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.
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1 articles
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Klippel-Trenaunay syndrome
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Haemangiectatic hypertrophy; Klippel-Trenaunay-Web..
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Haemangiectatic hypertrophy; Klippel-Trenaunay-Weber syndrome; angioosteohypertrophy syndrome
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A syndrome that is characterized by large cutaneou.. [+]
A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
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acute porphyria
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hepatic porphyria; hepatic porphyria (disorder)
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A porphyria that has_symptom abdominal pain, has_s.. [+]
A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis.
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schwannoma of twelfth cranial nerve
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Hypoglossal Schwannoma
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A neurilemmoma that is located_in the 12th cranial.. [+]
A neurilemmoma that is located_in the 12th cranial nerve.
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Pelizaeus-Merzbacher disease
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HLD1; hypomyelinating leukodystrophy 1; Leukodystr..
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hypomyelinating leukodystrophy 1; HLD1; Leukodystrophy, sudanophilic; Pelizaeus Merzbacher brain sclerosis; Pelizaeus-Merzbacher brain sclerosis; sudanophilic leukodystrophy, Paelizeus-Merzbacher type; diffuse familial brain sclerosis; PMD
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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.
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Tay-Sachs disease
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hexosaminidase A deficiency; disease, Tay-Sachs; T..
[+]
hexosaminidase A deficiency; disease, Tay-Sachs; Tay-Sachs disease (disorder); A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.; GM2 gangliosidosis, type 1
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A GM2 gangliosidosis that is characterized onset i.. [+]
A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.
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