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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
mitral valve prolapse
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floppy mitral valve; myxomatous mitral valve prola..
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floppy mitral valve; myxomatous mitral valve prolapse; Barlow's syndrome; systolic click-murmur syndrome; mitral leaflet syndrome
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A mitral valve disease where one or both of the cu.. [+]
A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
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1 articles
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hemolytic disease of the fetus
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fetal erythroblastosis; (Haemolytic disease due to..
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fetal erythroblastosis; (Haemolytic disease due to rhesus isoimmunisation) or (erythroblastosis fetalis) or (rhesus isoimmunisation of the newborn); erythroblastosis fetalis; EF - Erythroblastosis foetalis; Haemolytic disease due to rhesus isoimmunisation; rhesus isoimmunisation of the newborn; alloimmune HDFN; Hemolytic disease of the fetus and newborn
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A microcytic anemia that is characterized by Rho(D.. [+]
A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.
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hyperlipoproteinemia type V
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Fredrickson type V lipaemia; familial type 5 hyper..
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Fredrickson type V lipaemia; familial type 5 hyperlipoproteinemia; familial type 5 hyperlipoproteinemia (disorder); familial hyperlipoproteinemia type V
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n_a
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hyperlipoproteinemia type IV
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Fredrickson type IV lipidaemia; Fredrickson type I..
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Fredrickson type IV lipidaemia; Fredrickson type IV hyperlipoproteinemia; Fredrickson type IV Lipidemia; Fredrickson type IV hyperlipoproteinemia (disorder); familial hypertriglyceridemia; Endogenous hyperlipidaemia; VLDL hyperlipoproteinemia
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n_a
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nephrotic syndrome
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finnish congenital nephrosis
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A nephrosis characterized by marked increase in gl.. [+]
A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.
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4 articles
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transvestism
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Fetishistic transvestism; Fetishistic transvestism..
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Fetishistic transvestism; Fetishistic transvestism (disorder); cross dresser; Transvestic fetishism; Dual-role transvestism
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n_a
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abetalipoproteinemia
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familial hypobetalipoproteinemia; microsomal trigl..
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familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease
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A hypolipoproteinemia that is characterized by an .. [+]
A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.
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1 articles
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Tangier disease
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familial high density lipoprotein deficiency; fami..
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familial high density lipoprotein deficiency; familial hypoalphalipoproteinemia; familial alpha-lipoprotein deficiency
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A hypolipoproteinemia that is characterized by mar.. [+]
A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31.
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breast fibroadenoma
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Fibroadenoma; Fibroadenoma of breast; Fibroadenoma..
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Fibroadenoma of breast; Fibroadenoma; Fibroadenoma of breast (disorder); fibroadenoma; Complex Fibroadenoma of breast; Juvenile fibroadenoma (morphologic abnormality); juvenile fibroadenoma of breast; cellular Fibroadenoma; Juvenile fibroadenoma
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A breast benign neoplasm comprised of fibrous and .. [+]
A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
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McCune Albright syndrome
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fibrous dysplasia of bone; fibrous dysplasia of bo..
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fibrous dysplasia of bone; fibrous dysplasia of bone (disorder); fibrous Dysplasia of bone; osteitis fibrosa disseminata; polyostotic fibrous dysplasia
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A syndrome that is characterized by polyostotic fi.. [+]
A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.
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malignant fibrous histiocytoma
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Fibroxanthosarcoma (morphologic abnormality); Fibr..
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Fibroxanthosarcoma (morphologic abnormality); Fibroxanthosarcoma; fibrous histiocytoma, malignant (morphologic abnormality); MFH
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n_a
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Coffin-Siris syndrome
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Fifth Digit Syndrome; Short Stature-Onychodysplasi..
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Fifth Digit Syndrome; Short Stature-Onychodysplasia.; Dwarfism-Onychodysplasia
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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.
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2 articles
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6 matches
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Williams-Beuren syndrome
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Fanconi Schlesinger syndrome; WBS
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A syndrome that is characterized by mild to modera.. [+]
A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.
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1 articles
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vulvar angiokeratoma
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Fordyce angiokeratoma of vulva
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A vulvar benign neoplasm that is characterized by .. [+]
A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis.
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essential thrombocythemia
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familial thrombocytosis; hereditary thrombocythemi..
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familial thrombocytosis; hereditary thrombocythemia; primary Thrombocytosis; hemorrhagic thrombocythemia; 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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prothrombin deficiency
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Factor II deficiency; hypoprothrombinemia; Congeni..
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Factor II deficiency; hypoprothrombinemia; Congenital factor II deficiency; Hereditary factor II deficiency disease
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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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congenital afibrinogenemia
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Fibrinogen deficiency; Factor I deficiency
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A blood coagulation disease that is characterized .. [+]
A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I).
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leptospirosis
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Fort Bragg fever; Rat Catcher's Yellows; spirochet..
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Fort Bragg fever; Rat Catcher's Yellows; spirochetal jaundice; Leptospirosis icterohaemorrhagica; nanukayami fever; Weil's disease
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A primary bacterial infectious disease that involv.. [+]
A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.
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hereditary spastic paraplegia
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French settlement disease; familial spastic parapl..
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French settlement disease; familial spastic paraplegia; hereditary spastic paraparesis; Strumpell-Lorrain disease
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A paraplegia that is characterized by progressive .. [+]
A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
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1 articles
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macular corneal dystrophy
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Fehr corneal dystrophy; MACULAR DYSTROPHY, CORNEAL..
[+]
Fehr corneal dystrophy; MACULAR DYSTROPHY, CORNEAL, 1
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A corneal dystrophy that is characterized by corne.. [+]
A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea.
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benign fibrous mesothelioma
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fibrous mesothelioma, benign; fibrous mesothelioma..
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fibrous mesothelioma, benign; fibrous mesothelioma, benign (morphologic abnormality); localized benign fibrous Mesothelioma
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n_a
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Goldenhar syndrome
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First arch syndrome; Facio-auriculo-vertebral spec..
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First arch syndrome; Facio-auriculo-vertebral spectrum; First arch syndrome (disorder); First AND second branchial arch syndrome; Facio-auriculo-vertebral spectrum (disorder); HEMIFACIAL MICROSOMIA; Otomandibular dysostosis (disorder); OAV (oculoauriculovertebral) dysplasia; 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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Treacher Collins syndrome
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Franceschetti syndrome; (Mandibulofacial dysostosi..
[+]
Franceschetti syndrome; (Mandibulofacial dysostosis) or (Franceschetti syndrome); mandibulofacial dysostosis; Mandibulofacial dysostosis
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A syndrome that is characterized by bilateral and .. [+]
A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities.
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7 articles
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IgA glomerulonephritis
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Focal Glomerulonephritis; Berger's IgA or IgG neph..
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Focal Glomerulonephritis; Berger's IgA or IgG nephropathy; IGA glomerulonephritis; IgA nephropathy; segmental glomerulonephritis; primary IgA nephropathy
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A glomerulonephritis characterized by build up of .. [+]
A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.
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anus disease
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fissure in ano; anal disease; anal fissure; anal u..
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fissure in ano; anal disease; anal fissure; anal ulcer; Solitary anal ulcer; Ulcer of anus; anal fissure and fistula; Nontraumatic tear of anus
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A rectal disease located_in the anus.
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hyperlipoproteinemia type III
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familial type 3 hyperlipoproteinemia; familial hyp..
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familial type 3 hyperlipoproteinemia; familial hypercholesterolaemia with hyperlipaemia; familial type 3 hyperlipoproteinemia (disorder); carbohydrate induced hyperlipemia; Remnant hyperlipidemia
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A familial hyperlipidemia that has_material_basis_.. [+]
A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.
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lipid metabolism disorder
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fatty acid metabolism disorder; dyslipidemia
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An inherited metabolic disorder that involves the .. [+]
An inherited metabolic disorder that involves the creation and degradation of lipids.
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4 articles
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proliferative type fibrocystic change of breast
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Fibrocystic change, proliferative type with atypia..
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Fibrocystic change, proliferative type with atypia; Fibrocystic disease, Proliferative type with Atypia; Fibrocystic change, proliferative type with atypia (morphologic abnormality); Proliferating Lesion of breast without Atypia; Proliferating Lesion of the breast without Atypia; Proliferative Fibrocystic Change
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A breast fibrocystic disease that is characterized.. [+]
A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia.
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partial motor epilepsy
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Focal motor seizure, NOS; Focal motor seizure; Foc..
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Focal motor seizure; Focal motor seizure, NOS; Focal motor seizure (disorder); epilepsy, focal motor NOS; epilepsy, focal motor
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n_a
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Kallmann syndrome
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familial hypogonadism with anosmia; Hypogonadism w..
[+]
familial hypogonadism with anosmia; Hypogonadism with anosmia (disorder); Kallman syndrome; Kallman's syndrome; Hypogonadism with anosmia
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A hypogonadotropic hypogonadism with a defective s.. [+]
A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia).
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2 articles
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congenital myasthenic syndrome
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familial limb-girdle myasthenia
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A neuromuscular junction disease that is character.. [+]
A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).
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5 articles
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pulmonary fibrosis
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Fibrosis of lung
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An interstitial lung disease that is characterized.. [+]
An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.
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1 articles
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trabecular follicular adenocarcinoma
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Follicular adenocarcinoma, trabecular; Follicular ..
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Follicular adenocarcinoma, trabecular; Follicular adenocarcinoma, trabecular (morphologic abnormality); Trabecular Follicular carcinoma
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n_a
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tinea favosa
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favus
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A tinea capitis that results_in fungal infection l.. [+]
A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring.
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cutaneous fibrous histiocytoma
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fibrous xanthoma of skin; Fibrohistiocytic tumor; ..
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Fibrohistiocytic tumor; fibrous xanthoma of skin; fibrous histiocytoma of skin; Fibrohistiocytic tumor (disorder); fibrous xanthoma of skin (disorder); fibrous histiocytoma of skin (disorder); fibrohistiocytic tumor; Fibrohistiocytic neoplasm; benign Cutaneous fibrous Histiocytoma; dermatofibroma; Dermatofibroma, no ICD-O subtype (morphologic abnormality); Pleomorphic fibroma; Sclerosing angioma (morphologic abnormality); Dermatofibroma NOS; Sclerosing angioma of skin; Sclerosing angioma; Dermatofibroma
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n_a
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Hallermann-Streiff syndrome
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Francois dyscephalic syndrome; Hallerman - Streiff..
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Francois dyscephalic syndrome; Hallerman - Streiff syndrome; Hallermann's syndrome
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A syndrome that affects growth, cranial developmen.. [+]
A syndrome that affects growth, cranial development, hair growth and dental development.
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androgen insensitivity syndrome
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Feminisation - testicular; Androgen-Insensitivity ..
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Feminisation - testicular; Androgen-Insensitivity Syndrome; Goldberg - Maxwell syndrome; Goldberg-Maxwell syndrome; testicular feminization; Androgen resistance syndrome (disorder); testicular feminization (disorder); Androgen resistance syndrome; testicular Feminization syndrome
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A disorder of sexual development that is character.. [+]
A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.
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oxyphilic adenoma
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Follicular adenoma, oxyphilic cell; Oncocytoma
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n_a
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prolactinoma
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familial prolactinoma; PITUITARY ADENOMA, PROLACTI..
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familial prolactinoma; PITUITARY ADENOMA, PROLACTIN-SECRETING; Prolactinoma of Pituitary gland
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n_a
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Paget's disease of bone
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Familial Paget's disease of bone; osteitis deforma..
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Familial Paget's disease of bone; osteitis deformans; Paget's bone disease; osseous Paget's disease; Paget disease of bone
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A bone formation disease that has_material_basis_i.. [+]
A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
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bladder flat intraepithelial lesion
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Flat Intraepithelial Lesion of the urinary bladder..
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Flat Intraepithelial Lesion of the urinary bladder
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n_a
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kidney fibrosarcoma
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Fibrosarcoma of the kidney
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n_a
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breast fibrosarcoma
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Fibrosarcoma of the breast
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A breast sarcoma that arises from fibrous connecti.. [+]
A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
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heart fibrosarcoma
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Fibrosarcoma of the Heart; cardiac fibrosarcoma
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n_a
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reactive arthritis
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Fiessinger Leroy Reiter syndrome; Post-bacterial a..
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Fiessinger Leroy Reiter syndrome; Post-bacterial arthropathy; postdysenteric arthropathy; Reactive arthritis; Reiter disease; Reiter's disease
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An arthritis that is an autoimmune disease which d.. [+]
An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.
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central nervous system fibrosarcoma
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Fibrosarcoma of the CNS
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n_a
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acne
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frontalis acne; acne vulgaris; Acne varioliformis; ..
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frontalis acne; acne vulgaris; Acne varioliformis
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A sebaceous gland disease characterized by areas o.. [+]
A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.
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diffuse idiopathic skeletal hyperostosis
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Forestier disease; Ankylosing vertebral hyperostos..
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Forestier disease; Ankylosing vertebral hyperostosis; DISH; Disseminated idiopathic skeletal hyperostosis
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A calcinosis that is the calcification or a bony h.. [+]
A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine.
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X-linked Aarskog syndrome
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faciogenital dysplasia; Aarskog-Scott syndrome; Gr..
[+]
faciogenital dysplasia; Aarskog-Scott syndrome; Greig's syndrome
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A syndromic X-linked intellectual disability affec.. [+]
A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face.
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skin tag
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Fibroepithelial polyp of skin; Fibroepithelial pol..
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Fibroepithelial polyp of skin; Fibroepithelial polyp; cutaneous tag; soft fibroma
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A reactive cutaneous fibrous lesion that is charac.. [+]
A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease.
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