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Disease                  Synonyms                  Description
Fanconi anemia complementation group J
FANCJ;
A Fanconi anemia that has_material_basis_in homozygous or co..[+]
Fanconi anemia complementation group L
FANCL;
A Fanconi anemia that has_material_basis_in homozygous or co..[+]
Fanconi anemia complementation group N
FANCN;
A Fanconi anemia that has_material_basis_in compound heteroz..[+]
Fanconi anemia complementation group O
FANCO;
A Fanconi anemia that has_material_basis_in homozygous mutat..[+]
Fanconi anemia complementation group P
FANCP;
A Fanconi anemia characterized by increased chromosomal inst..[+]
Fanconi anemia complementation group Q
FANCQ;
A Fanconi anemia that has_material_basis_in compound heteroz..[+]
Fanconi anemia complementation group R
FANCR;
A Fanconi anemia that has_material_basis_in heterozygous mut..[+]
Fanconi anemia complementation group T
FANCT;
A Fanconi anemia that has_material_basis_in compound heteroz..[+]
Fanconi anemia complementation group U
FANCU;
A Fanconi anemia that has_material_basis_in homozygous mutat..[+]
Fanconi anemia complementation group V
FANCV;
A Fanconi anemia that has_material_basis_in homozygous mutat..[+]
Fanconi renotubular syndrome 1
A Fanconi syndrome that has_material_basis_in heterozygous m..[+]
Fanconi renotubular syndrome 2
A Fanconi syndrome that has_material_basis_in homozygous mut..[+]
Fanconi renotubular syndrome 4
A Fanconi syndrome that has_material_basis_in heterozygous m..[+]
Fanconi syndrome
adult Fanconi Anemia; adult Fanconi syndrome; De Toni-Fancon.. [+]
A renal tubular transport disease of the proximal renal tube..[+]
Fanconi-like syndrome
A syndrome characterized by pancytopenia, immune deficiency ..[+]
Far Eastern spotted fever
Rickettsia heilongjiangensis spotted fever;
A spotted fever that has_material_basis_in Rickettsia heilon..[+]
Farber lipogranulomatosis
Acid Ceramidase Deficiency; Farber Disease; N-LAURYLSPHINGOS.. [+]
A lipid storage disease that is characterized by abnormaliti..[+]
Fazio-Londe disease
riboflavin transporter deficiency neuronopathy;
A progressive bulbar palsy that is characterized by motor, s..[+]
Feingold syndrome
digital anomalies with short palpebral fissures and atresia .. [+]
A syndrome characterized by variable combinations of microce..[+]
Felty's syndrome
Felty syndrome; Rheumatoid arthritis with splenoadenomegaly .. [+]
A syndrome that results_in rheumatoid arthritis, splenomegal..[+]
Ferguson-Smith tumor
Multiple self-healing epithelioma of Ferguson-Smith (disorde.. [+]
n_a
Filippi syndrome
Scott craniodigital syndrome with mental retardation; type 1.. [+]
A syndrome characterized by short stature, microcephaly, syn..[+]
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, ..[+]
Flinders Island spotted fever
FISF; Thai tick typhus;
A spotted fever that has_material_basis_in Rickettsia honei,..[+]
Floating-Harbor syndrome
FLHS;
A syndrome characterized by growth retardation, proportionat..[+]
Foster-Kennedy syndrome
n_a
Fox-Fordyce disease
Fox Fordyce disease;
A sweat gland disease that is characterized by dilatation of..[+]
Fraser syndrome
cryptophthalmos with other malformations;
A syndrome characterized by cryptophthalmos, syndactyly, amb..[+]
Frasier syndrome
A syndrome that is characterized by gonadal dysgenesis, stre..[+]
Freeman-Sheldon syndrome
craniocarpotarsal dysplasia; craniocarpotarsal dystrophy; wh.. [+]
A distal arthrogryposis characterized by microstomia with a ..[+]
French Canadian Leigh disease
French Canadian type COX deficiency; French Canadian type cy.. [+]
A Leigh disease characterized by metabolic and/or neurologic..[+]
Frey syndrome
Baillarger syndrome; gustatory hyperhidrosis (disorder); gus.. [+]
n_a
Friedreich ataxia
Friedreich ataxia 1; Friedreich's ataxia; Friedreich's tabes.. [+]
n_a
Froelich syndrome
adiposogenital syndrome; Babinski-Froelich syndrome; Froehli.. [+]
A hypothalamic disease that is characterized by endocrine dy..[+]
Fuchs' endothelial dystrophy
FCED; Fuchs' endothelial corneal dystrophy; Fuchs' corneal d.. [+]
A corneal dystrophy characterized by accumulation of focal o..[+]
Fuchs' heterochromic uveitis
Fuch's Heterochromic iridocyclitis; Fuchs uveitis syndrome; .. [+]
A syndrome that is a chronic unilateral (or rarely bilateral..[+]
Fuhrmann syndrome
A bone development disease characterized by autosomal recess..[+]
Fukuyama congenital muscular dystrophy
n_a
GABA aminotransferase deficiency
Gamma-amino butyric acid transaminase deficiency; gamma-amin.. [+]
A gamma-amino butyric acid metabolism disorder that is chara..[+]
GM1 gangliosidosis
Beta-galactosidase deficiency; beta-Galactosidase deficiency.. [+]
A gangliosidosis that is characterized by progressive destru..[+]
GM2 gangliosidosis
GM>2< gangliosidosis (disorder); gangliosidosis GM2;
A gangliosidosis that is characterized by excessive accumula..[+]
GM2 gangliosidosis, AB variant
Tay-Sachs disease, variant AB (disorder); Tay-Sachs disease .. [+]
A GM2 gangliosidosis that is characterized by normal hexosam..[+]
GRACILE syndrome
Fellman disease; Finnish lactic acidosis with hepatic hemosi.. [+]
A mitochondrial disorder characterized by fetal growth restr..[+]
GRID2-related spinocerebellar ataxia
n_a
Galloway-Mowat syndrome
Galloway syndrome; nephrosis-microcephaly syndrome; nephrosi.. [+]
An autosomal recessive disease characterized_by is a rare au..[+]
Galloway-Mowat syndrome
A syndrome that is characterized by developmental delay, pro..[+]
Galloway-Mowat syndrome 2
A Galloway-Mowat syndrome that has_material_basis_in hemizyg..[+]
Galloway-Mowat syndrome 3
A Galloway-Mowat syndrome that has_material_basis_in homozyg..[+]
Galloway-Mowat syndrome 4
A Galloway-Mowat syndrome that has_material_basis_in homozyg..[+]

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