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Disease	Synonyms	Description
Felty's syndrome	Felty syndrome; Rheumatoid arthritis with splenoadenomegaly .. [+] Felty syndrome; Rheumatoid arthritis with splenoadenomegaly and leukopenia; [-]	A syndrome that results_in rheumatoid arthritis, splenomegal..[+] A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. [-]
Ferguson-Smith tumor	Multiple self-healing epithelioma of Ferguson-Smith (disorde.. [+] Multiple self-healing epithelioma of Ferguson-Smith (disorder); Multiple self-healing epithelioma of Ferguson-Smith; [-]	n_a
Finnish type amyloidosis	AMYLOIDOSIS, MERETOJA TYPE;	n_a
Fleck corneal dystrophy	Francois-Neetens speckled corneal dystrophy; FCD;	A stromal dystrophy that is characterized by numerous tiny, ..[+] A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. [-]
Flinders Island spotted fever	FISF; Thai tick typhus;	A spotted fever that has_material_basis_in Rickettsia honei,..[+] A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. [-]
Floating-Harbor syndrome	FLHS;	A syndrome characterized by growth retardation, proportionat..[+] A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2. [-]
Foster-Kennedy syndrome		n_a
Fox-Fordyce disease	Fox Fordyce disease;	A sweat gland disease that is characterized by dilatation of..[+] A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. [-]
Fraser syndrome	cryptophthalmos with other malformations;	A syndrome characterized by cryptophthalmos, syndactyly, amb..[+] A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. [-]
Frasier syndrome		A syndrome that is characterized by gonadal dysgenesis, stre..[+] A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. [-]
Freeman-Sheldon syndrome	craniocarpotarsal dysplasia; craniocarpotarsal dystrophy; wh.. [+] craniocarpotarsal dysplasia; craniocarpotarsal dystrophy; whistling face syndrome; whistling face-windmill vane hand syndrome; [-]	A distal arthrogryposis characterized by microstomia with a ..[+] A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. [-]
French Canadian Leigh disease	French Canadian type COX deficiency; French Canadian type cy.. [+] French Canadian type COX deficiency; French Canadian type cytochrome c oxidase deficiency; French Canadian type Leigh syndrome; Saguenay Lac saint Jean type Leigh syndrome; Saguenay Lac saint Jean type COX deficiency; [-]	A Leigh disease characterized by metabolic and/or neurologic..[+] A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. [-]
Frey syndrome	Baillarger syndrome; gustatory hyperhidrosis (disorder); gus.. [+] Baillarger syndrome; gustatory hyperhidrosis (disorder); gustatory sweating; [-]	n_a
Friedreich ataxia	Friedreich ataxia 1; Friedreich's ataxia; Friedreich's tabes.. [+] Friedreich ataxia 1; Friedreich's ataxia; Friedreich's tabes; [-]	n_a
Froelich syndrome	adiposogenital syndrome; Babinski-Froelich syndrome; Froehli.. [+] adiposogenital syndrome; Babinski-Froelich syndrome; Froehlich's syndrome; Froelich's syndrome; Froehlich syndrome; [-]	A hypothalamic disease that is characterized by endocrine dy..[+] A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. [-]
Fuchs' endothelial dystrophy	FCED; Fuchs' endothelial corneal dystrophy; Fuchs' corneal d.. [+] FCED; Fuchs' endothelial corneal dystrophy; Fuchs' corneal dystrophy; [-]	A corneal dystrophy characterized by accumulation of focal o..[+] A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. [-]
Fuchs' heterochromic uveitis	Fuch's Heterochromic iridocyclitis; Fuchs uveitis syndrome; .. [+] Fuch's Heterochromic iridocyclitis; Fuchs uveitis syndrome; Fuchs' heterochromic cyclitis; [-]	A syndrome that is a chronic unilateral (or rarely bilateral..[+] A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. [-]
Fuhrmann syndrome		A bone development disease characterized by autosomal recess..[+] A bone development disease characterized by autosomal recessive inheritance of bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in homozygous mutation in the WNT7A gene on chromosome 3p25. [-]
Fukuyama congenital muscular dystrophy		n_a
GABA aminotransferase deficiency	Gamma-amino butyric acid transaminase deficiency; gamma-amin.. [+] Gamma-amino butyric acid transaminase deficiency; gamma-aminobutyric acid transaminase deficiency; [-]	A gamma-amino butyric acid metabolism disorder that is chara..[+] A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. [-]
GM1 gangliosidosis	Beta-galactosidase deficiency; beta-Galactosidase deficiency.. [+] Beta-galactosidase deficiency; beta-Galactosidase deficiency; deficiency of beta-galactosidase (disorder); GM>1< gangliosidosis (disorder); Landing syndrome; GM1 gangliosidosis (disorder); deficiency of beta-galactosidase; gangliosidosis GM1; [-]	A gangliosidosis that is characterized by progressive destru..[+] A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. [-]
GM2 gangliosidosis	GM>2< gangliosidosis (disorder); gangliosidosis GM2;	A gangliosidosis that is characterized by excessive accumula..[+] A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. [-]
GM2 gangliosidosis, AB variant	Tay-Sachs disease, variant AB (disorder); Tay-Sachs disease .. [+] Tay-Sachs disease, variant AB (disorder); Tay-Sachs disease AB variant; Tay-Sachs disease, variant AB; [-]	A GM2 gangliosidosis that is characterized by normal hexosam..[+] A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. [-]
GRACILE syndrome	Fellman disease; Finnish lactic acidosis with hepatic hemosi.. [+] Fellman disease; Finnish lactic acidosis with hepatic hemosiderosis; Finnish lethal neonatal metabolic syndrome; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death; FLNMS; [-]	A mitochondrial disorder characterized by fetal growth restr..[+] A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has _material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35. [-]
GRID2-related spinocerebellar ataxia		n_a
Galloway-Mowat syndrome	Galloway syndrome; nephrosis-microcephaly syndrome; nephrosi.. [+] Galloway syndrome; nephrosis-microcephaly syndrome; nephrosis-neuronal dysmigration syndrome; microcephaly, hiatal hernia and nephrotic syndrome; [-]	An autosomal recessive disease characterized_by is a rare au..[+] An autosomal recessive disease characterized_by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. [-]
Galloway-Mowat syndrome		A syndrome that is characterized by developmental delay, pro..[+] A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. [-]
Galloway-Mowat syndrome 2		A Galloway-Mowat syndrome that has_material_basis_in hemizyg..[+] A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. [-]
Galloway-Mowat syndrome 3		A Galloway-Mowat syndrome that has_material_basis_in homozyg..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. [-]
Galloway-Mowat syndrome 4		A Galloway-Mowat syndrome that has_material_basis_in homozyg..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. [-]
Galloway-Mowat syndrome 5		A Galloway-Mowat syndrome that has_material_basis_in homozyg..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. [-]
Gamstorp-Wohlfart syndrome	autosomal recessive neuromyotonia and axonal neuropathy; myo.. [+] autosomal recessive neuromyotonia and axonal neuropathy; myokymia, myotonia and muscle wasting; [-]	A syndrome characterized by progressive weakness and atrophy..[+] A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. [-]
Gasserian ganglion meningioma	meningioma of Gasserian Ganglion;	n_a
Gaucher's disease	Gaucher disease; glocucerebrosidase deficiency; kerasin thes.. [+] Gaucher disease; glocucerebrosidase deficiency; kerasin thesaurismosis; lipoid histiocytosis (kerasin type); glucosylceramide beta-glucosidase deficiency; acid beta-glucosidase deficiency; [-]	A sphingolipidosis characterized by deficiency of the enzyme..[+] A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. [-]
Gaucher's disease perinatal lethal	Fetal Gaucher Disease; Gaucher Disease, Collodion Type;	A Gaucher's Disease characterized by perinatal lethality and..[+] A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. [-]
Gaucher's disease type I	Gaucher Disease, Noncerebral Juvenile; Gba Deficiency; GD I;.. [+] Gaucher Disease, Noncerebral Juvenile; Gba Deficiency; GD I; Acid Beta-Glucosidase Deficiency; Glucocerebrosidase Deficiency; [-]	A Gaucher's disease characterized by absence of primary cent..[+] A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22. [-]
Gaucher's disease type II	Infantile Cerebral Gaucher Disease; Gaucher Disease, Acute N.. [+] Infantile Cerebral Gaucher Disease; Gaucher Disease, Acute Neuronopathic Type; GD II; [-]	A Gaucher's disease characterized by rapid neurologic deteri..[+] A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. [-]
Gaucher's disease type III	GD III; Gaucher Disease, Chronic Neuronopathic Type; Gaucher.. [+] GD III; Gaucher Disease, Chronic Neuronopathic Type; Gaucher Disease, Subacute Neuronopathic Type; Gaucher Disease, Juvenile And Adult, Cerebral; [-]	A Gaucher's disease characterized by later onset and slower ..[+] A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. [-]
Gerstmann syndrome	Aphasia-angular gyrus syndrome;	A nervous system disease that results_from damage located_in..[+] A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. [-]
Gerstmann-Straussler-Scheinker syndrome	Gerstmann-Straussler-Scheinker disease; PRION DEMENTIA;	A prion disease characterized by adult onset of memory loss,..[+] A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. [-]
Gilbert syndrome	Constitutional hyperbilirubinemia; Gilbert's disease; Gilber.. [+] Constitutional hyperbilirubinemia; Gilbert's disease; Gilbert-Meulengracht syndrome; Gilbert's syndrome; hereditary nonhemolytic jaundice; [-]	A bilirubin metabolic disorder that involves elevated levels..[+] A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. [-]
Gilles de la Tourette syndrome	Guinon's disease; motor-verbal tic disorder; Psychogenic tic.. [+] Guinon's disease; motor-verbal tic disorder; Psychogenic tics; Tourette syndrome; [-]	A tic disorder that is characterized by multiple physical (m..[+] A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. [-]
Gillespie syndrome	aniridia-cerebellar ataxia-intellectual disability syndrome;.. [+] aniridia-cerebellar ataxia-intellectual disability syndrome; GLSP; aniridia, cerebellar ataxia and mental deficiency; [-]	A syndrome characterized by iris hypoplasia, congenital hypo..[+] A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1. [-]
Gitelman syndrome	HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCA.. [+] HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA; [-]	A renal tubular transport disease that is has_material_basis..[+] A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). [-]
Glanzmann's thrombasthenia	BDPLT2; deficiency of platelet fibrinogen receptor; Glanzman.. [+] BDPLT2; deficiency of platelet fibrinogen receptor; Glanzmann thrombasthenia; Glycoprotein IIb/IIIa defect; thrombasthenia of Glanzmann and Naegeli; Thrombocytasthenia; deficiency of glycoprotein complex IIb-IIIa; platelet glycoprotein IIb-IIIa deficiency; deficiency of GP IIb-IIIa complex; platelet-type bleeding disorder 2; [-]	A blood coagulation disease characterized by autosomal reces..[+] A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. [-]
Goldberg-Shprintzen syndrome	Goldberg-Shprintzen megacolon syndrome;	A syndrome characterized by intellectual disability, specifi..[+] A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has _material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. [-]
Goldenhar syndrome	Facio-auriculo-vertebral spectrum (disorder); First AND seco.. [+] Facio-auriculo-vertebral spectrum (disorder); First AND second branchial arch syndrome; First arch syndrome (disorder); HEMIFACIAL MICROSOMIA; Otomandibular dysostosis (disorder); OAV (oculoauriculovertebral) dysplasia; Facio-auriculo-vertebral spectrum; First arch syndrome; Otomandibular dysostosis; [-]	A syndrome that is characterized by incomplete development o..[+] 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. [-]
Good syndrome	thymoma with hypogammaglobulinemia;	A combined T cell and B cell immunodeficiency that is a cond..[+] A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. [-]
Goodpasture syndrome	anti-glomerular basement membrane disease; anti-GBM disease;.. [+] anti-glomerular basement membrane disease; anti-GBM disease; [-]	An autoimmune hypersensitivity disease that is characterized..[+] An autoimmune hypersensitivity disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. [-]
Gordon Holmes syndrome	CAHH; GDHS; LHRH deficiency and ataxia; luteinizing hormone-.. [+] CAHH; GDHS; LHRH deficiency and ataxia; luteinizing hormone-releasing hormone deficiency with ataxia; cerebellar ataxia-hypogonadism syndrome; [-]	An inherited metabolic disorder characterized by progressive..[+] An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1. [-]

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