Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Fanconi syndrome |
adult Fanconi syndrome; De Toni-Fanconi syndrome; ..
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A renal tubular transport disease of the proximal ..[+]
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2 articles | |
Fanconi-Bickel syndrome |
FBS; glycogen storage disease XI; glycogenosis typ..
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A glucose metabolism disease characterized by hepa..[+]
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Fanconi-like syndrome |
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A syndrome characterized by pancytopenia, immune d..[+]
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1 articles | |
Far Eastern spotted fever |
Rickettsia heilongjiangensis spotted fever;
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A spotted fever that has_material_basis_in Rickett..[+]
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Farber lipogranulomatosis |
Acid Ceramidase Deficiency; Farber Disease; N-LAUR..
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A lipid storage disease that is characterized by a..[+]
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Fazio-Londe disease |
riboflavin transporter deficiency neuronopathy;
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A progressive bulbar palsy that is characterized b..[+]
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Feingold syndrome |
digital anomalies with short palpebral fissures an..
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A syndrome characterized by variable combinations ..[+]
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Felty's syndrome |
Felty syndrome; Rheumatoid arthritis with splenoad..
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A syndrome that results_in rheumatoid arthritis, s..[+]
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Ferguson-Smith tumor |
Multiple self-healing epithelioma of Ferguson-Smit..
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n_a
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Filippi syndrome |
Scott craniodigital syndrome with mental retardati..
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A syndrome characterized by short stature, microce..[+]
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Finnish type amyloidosis |
AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; gels..
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An amyloidosis that is characterized by abnormal d..[+]
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Fleck corneal dystrophy |
Francois-Neetens speckled corneal dystrophy; FCD;
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A stromal dystrophy that is characterized by numer..[+]
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Flinders Island spotted fever |
FISF; Thai tick typhus;
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A spotted fever that has_material_basis_in Rickett..[+]
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Floating-Harbor syndrome |
FLHS;
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A syndrome characterized by growth retardation, pr..[+]
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Foster-Kennedy syndrome |
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n_a
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Fox-Fordyce disease |
Fox Fordyce disease;
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A sweat gland disease that is characterized by dil..[+]
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Frank-Ter Haar syndrome |
autosomal recessive Melnick-Needles syndrome; Borr..
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An otopalatodigital syndrome spectrum disorder cha..[+]
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Fraser syndrome |
cryptophthalmos with other malformations;
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A syndrome characterized by cryptophthalmos, synda..[+]
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Fraser syndrome 1 |
FRASRS1;
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A Fraser syndrome that has_material_basis_in homoz..[+]
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Fraser syndrome 2 |
FRASRS2;
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A Fraser syndrome that has_material_basis_in homoz..[+]
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Fraser syndrome 3 |
FRASRS3;
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A Fraser syndrome that has_material_basis_in homoz..[+]
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Frasier syndrome |
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A syndrome that is characterized by gonadal dysgen..[+]
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Freeman-Sheldon syndrome |
craniocarpotarsal dysplasia; whistling face syndro..
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A distal arthrogryposis characterized by microstom..[+]
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French Canadian Leigh disease |
French Canadian type COX deficiency; French Canadi..
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A cytochrome-c oxidase deficiency disease characte..[+]
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Frey syndrome |
Baillarger syndrome; gustatory hyperhidrosis (diso..
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An autonomic nervous system disease that is charac..[+]
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Friedreich ataxia |
Friedreich ataxia 1; Friedreich's ataxia; Friedrei..
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n_a
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Friedreich ataxia 1 |
FA1; FRDA1;
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A Friedreich ataxia that has_material_basis_in hom..[+]
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Friedreich ataxia 2 |
FRDA2;
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A Friedreich ataxia that has_material_basis_in mut..[+]
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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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GM1 gangliosidosis type 2 |
juvenile GM1 gangliosidosis;
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A GM1 gangliosidosis that is characterized by slow..[+]
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GM1 gangliosidosis type 3 |
adult-onset GM1 gangliosidosis;
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A GM1 gangliosidosis that is characterized by neur..[+]
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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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