Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Froelich syndrome |
adiposogenital syndrome; Babinski-Froelich syndrom..
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A hypothalamic disease that is characterized by en..[+]
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Fuchs' endothelial dystrophy |
FCED; Fuchs' endothelial corneal dystrophy; Fuchs'..
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A corneal dystrophy characterized by accumulation ..[+]
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2 articles | |
Fuchs' heterochromic uveitis |
Fuch's Heterochromic iridocyclitis; Fuchs' heteroc..
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A syndrome that is a chronic unilateral (or rarely..[+]
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Fuhrmann syndrome |
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A bone development disease that is characterized b..[+]
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Fukuyama congenital muscular dystrophy |
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A congenital muscular dystrophy-dystroglycanopathy..[+]
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GABA aminotransferase deficiency |
Gamma-amino butyric acid transaminase deficiency; ..
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A gamma-amino butyric acid metabolism disorder tha..[+]
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GAND syndrome |
autosomal dominant mental retardation 18; MRD18; a..
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An autosomal dominant intellectual developmental d..[+]
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GAPO syndrome |
growth delay-alopecia-pseudoanodontia-optic atroph..
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A syndrome characterized by growth retardation, al..[+]
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GM1 gangliosidosis |
Beta-galactosidase deficiency; beta-Galactosidase ..
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A gangliosidosis that is characterized by progress..[+]
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GM1 gangliosidosis type 1 |
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A GM1 gangliosidosis that is characterized by rapi..[+]
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GM2 gangliosidosis |
GM>2< gangliosidosis (disorder); gangliosidosis GM..
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A gangliosidosis that is characterized by excessiv..[+]
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GM2 gangliosidosis, AB variant |
Tay-Sachs disease, variant AB (disorder); Tay-Sach..
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A GM2 gangliosidosis that is characterized by norm..[+]
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GNE myopathy |
Distal Myopathy with Rimmed Vacuoles; Distal myopa..
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A myopathy that is characterized by progressive sk..[+]
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GRACILE syndrome |
Fellman disease; Finnish lethal neonatal metabolic..
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A mitochondrial disorder characterized by fetal gr..[+]
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GRID2-related spinocerebellar ataxia |
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n_a
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Galloway-Mowat syndrome |
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A syndrome that is characterized by developmental ..[+]
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3 articles | 21 matches |
Galloway-Mowat syndrome 1 |
Galloway syndrome; nephrosis-microcephaly syndrome..
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A Galloway-Mowat syndrome that has_material_basis_..[+]
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2 articles | 21 matches |
Galloway-Mowat syndrome 2 |
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A Galloway-Mowat syndrome that has_material_basis_..[+]
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Galloway-Mowat syndrome 3 |
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A Galloway-Mowat syndrome that has_material_basis_..[+]
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Galloway-Mowat syndrome 4 |
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A Galloway-Mowat syndrome that has_material_basis_..[+]
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Galloway-Mowat syndrome 5 |
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A Galloway-Mowat syndrome that has_material_basis_..[+]
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Gamstorp-Wohlfart syndrome |
autosomal recessive neuromyotonia and axonal neuro..
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A syndrome characterized by progressive weakness a..[+]
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1 articles | |
Gasserian ganglion meningioma |
meningioma of Gasserian Ganglion;
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n_a
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Gaucher's disease |
glocucerebrosidase deficiency; kerasin thesaurismo..
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A sphingolipidosis characterized by deficiency of ..[+]
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Gaucher's disease perinatal lethal |
Fetal Gaucher Disease; Gaucher Disease, Collodion ..
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A Gaucher's Disease characterized by perinatal let..[+]
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Gaucher's disease type I |
Gaucher Disease, Noncerebral Juvenile; Gba Deficie..
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A Gaucher's disease characterized by absence of pr..[+]
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Gaucher's disease type II |
Infantile Cerebral Gaucher Disease; Gaucher Diseas..
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A Gaucher's disease characterized by rapid neurolo..[+]
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Gaucher's disease type III |
GD III; Gaucher Disease, Subacute Neuronopathic Ty..
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A Gaucher's disease characterized by later onset a..[+]
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Gaucher's disease type IIIC |
cardiovascular Gaucher disease; Gaucher disease ty..
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A Gaucher's disease type III characterized by addi..[+]
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Gerstmann syndrome |
Aphasia-angular gyrus syndrome;
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A nervous system disease that results_from damage ..[+]
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Gerstmann-Straussler-Scheinker syndrome |
Gerstmann-Straussler-Scheinker disease; PRION DEME..
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A prion disease characterized by adult onset of me..[+]
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Ghosal hematodiaphyseal syndrome |
diaphyseal dysplasia-anemia syndrome; Ghosal hemat..
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A syndrome characterized by increased bone density..[+]
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Gilbert syndrome |
Constitutional hyperbilirubinemia; Gilbert's disea..
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A bilirubin metabolic disorder that involves eleva..[+]
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Gilles de la Tourette syndrome |
Guinon's disease; motor-verbal tic disorder; Psych..
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A tic disorder that is characterized by multiple p..[+]
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1 articles | |
Gillespie syndrome |
aniridia-cerebellar ataxia-intellectual disability..
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A syndrome characterized by iris hypoplasia, conge..[+]
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Gitelman syndrome |
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W..
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A renal tubular transport disease that is has_mate..[+]
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5 articles | |
Glanzmann's thrombasthenia |
BDPLT2; deficiency of platelet fibrinogen receptor..
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A blood coagulation disease characterized by autos..[+]
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Goldberg-Shprintzen syndrome |
Goldberg-Shprintzen megacolon syndrome;
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A syndrome characterized by intellectual disabilit..[+]
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Goldenhar syndrome |
Facio-auriculo-vertebral spectrum (disorder); Firs..
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A syndrome that is characterized by incomplete dev..[+]
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1 articles | |
Good syndrome |
thymoma with hypogammaglobulinemia;
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A combined T cell and B cell immunodeficiency that..[+]
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Goodpasture syndrome |
anti-glomerular basement membrane disease; anti-GB..
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An autoimmune disease that is characterized by ant..[+]
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Gordon Holmes syndrome |
CAHH; LHRH deficiency and ataxia; cerebellar ataxi..
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An inherited metabolic disorder characterized by p..[+]
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Gorham's disease |
Disappearing bone disease (disorder); essential os..
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A syndrome that is characterized by bone loss (ost..[+]
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Graves ophthalmopathy |
Graves orbitopathy; Thyroid associated ophthalmopa..
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An autoimmune disease of eyes, ear, nose and throa..[+]
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Graves' disease |
Basedow's disease; Grave's disease; exophthalmic g..
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An autoimmune disease of endocrine system that inv..[+]
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1 articles | |
Greenberg dysplasia |
autosomal recessive lethal chondrodystrophy with c..
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An inherited metabolic disorder characterized by a..[+]
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Greig cephalopolysyndactyly syndrome |
polysyndactyly with peculiars skull shape;
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An acrocephalosyndactylia that has_material_basis_..[+]
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2 articles | |
Griscelli syndrome |
Chédiak-Higashi-like syndrome; Griscelli-Pruniér..
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An integumentary system disease characterized by s..[+]
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Griscelli syndrome type 1 |
Griscelli syndrome, cutaneous and neurological typ..
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A Griscelli syndrome characterized by silvery gray..[+]
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Griscelli syndrome type 2 |
Griscelli syndrome with hemophagocytic syndrome; G..
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A Griscelli syndrome characterized by silvery gray..[+]
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