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Disease | Synonyms | Description |
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Dubin-Johnson syndrome |
Dubin Johnson syndrome; chronic idiopathic jaundice;
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A bilirubin metabolic disorder that involves elevated levels..[+]
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Dubowitz syndrome |
Dubowitz's syndrome (disorder); Dubowitz's syndrome;
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A syndrome that is characterized by microcephaly, growth ret..[+]
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Duchenne muscular dystrophy |
Muscular dystrophy, Duchenne;
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A muscular dystrophy that has_material_basis_in X-linked mut..[+]
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Dyggve-Melchior-Clausen disease |
DMC disease; pseudo-Morquio disease type I;
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A spondyloepimetaphyseal dysplasia characterized by clawed f..[+]
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EAST syndrome |
epilepsy, ataxia, sensorineural deafness and tubulopathy; Se..
[+]
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A syndrome characterize by seizures, sensorineural deafness,..[+]
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EEC syndrome |
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syn..
[+]
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A syndrome characterized by ectrodactyly, ectodermal dysplas..[+]
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Eastern equine encephalitis |
EEE; Neuroinvasive Eastern equine encephalitis virus infecti..
[+]
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A viral infectious disease that results in inflammation loca..[+]
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Ebola hemorrhagic fever |
Ebola virus disease;
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A viral infectious disease that is a hemorrhagic fever, has_..[+]
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Ebstein anomaly |
Ebstein's anomaly; Ebstein's anomaly (disorder) [Ambiguous];..
[+]
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A tricuspid valve disease that is a congenital heart defect ..[+]
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Edwards syndrome |
Complete trisomy 18 syndrome (disorder); E3 Trisomy; Complet..
[+]
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A chromosomal duplciation syndrome that is characterized by ..[+]
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Ehlers-Danlos syndrome |
Cutis hyperelastica; elastic skin;
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A collagen disease that is characterized by extremely flexib..[+]
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Ehlers-Danlos syndrome progeroid type |
defective biosynthesis of proteodermatan sulfate; XGPT defic..
[+]
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An Ehlers-Danlos syndrome that is characterized by aged appe..[+]
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Ehrlich tumor carcinoma |
Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich's tumour;..
[+]
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n_a
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Eiken syndrome |
bone modeling defect of hands and feet; Eiken skeletal dyspl..
[+]
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A bone development disease characterized by severely delayed..[+]
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Ellis-Van Creveld syndrome |
Chondroectodermal dysplasia; Chondroectodermal dysplasia (di..
[+]
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A syndrome characterized by short limbs, short ribs, postaxi..[+]
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Elsahy-Waters syndrome |
branchioskeletogenital syndrome;
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A syndrome that is characterized by brachycephaly, facial as..[+]
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Emery-Dreifuss muscular dystrophy |
EDMD;
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A muscular dystrophy that chiefly affects muscles used for m..[+]
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Epstein-Barr virus hepatitis |
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A viral hepatitis that results_in inflammation, located_in l..[+]
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Erdheim-Chester disease |
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n_a
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Evans' syndrome |
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n_a
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Ewing sarcoma |
Ewing's sarcoma/peripheral primitive neuroectodermal tumor; ..
[+]
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A bone sarcoma that has_material_basis in neural crest cells..[+]
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Ewing sarcoma of bone |
bone Ewing's sarcoma; bone localized Ewing sarcoma; bone loc..
[+]
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A peripheral primitive neuroectodermal tumor that is located..[+]
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FG syndrome |
Keller syndrome; Opitz-Kaveggia syndrome;
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A syndrome characterized by retardation, hyperactivity, hypo..[+]
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Fabry disease |
Alpha-galactosidase A deficiency; Angiokeratoma Corporis Dif..
[+]
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A sphingolipidosis that is characterized by the buildup of g..[+]
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Fanconi anemia |
Fanconi panmyelopathy; Fanconi's anemia; Fanconi pancytopeni..
[+]
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A congenital hypoplastic anemia characterized by progressive..[+]
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Fanconi anemia complementation group A |
FANCA;
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A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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Fanconi anemia complementation group B |
FA2; FACB; Fanconi pancytopenia type 2; FANCB;
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A Fanconi anemia that has_material_basis_in mutation in the ..[+]
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Fanconi anemia complementation group C |
FACC; FANCC; Fanconi pancytopenia type 3; FA3;
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A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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Fanconi anemia complementation group D1 |
FAD1; FANCD1;
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A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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Fanconi anemia complementation group D2 |
FA4; FANCD2; Fanconi pancytopenia type 4; FAD2;
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A Fanconi anemia that has_material_basis_in compound heteroz..[+]
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Fanconi anemia complementation group E |
FACE; FANCE;
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A Fanconi anemia that has_material_basis_in homozygous mutat..[+]
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Fanconi anemia complementation group F |
FANCF;
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A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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Fanconi anemia complementation group G |
FANCG;
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A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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Fanconi anemia complementation group I |
FANCI;
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A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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Fanconi anemia complementation group J |
FANCJ;
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A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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Fanconi anemia complementation group L |
FANCL;
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A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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Fanconi anemia complementation group N |
FANCN;
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A Fanconi anemia that has_material_basis_in compound heteroz..[+]
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Fanconi anemia complementation group O |
FANCO;
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A Fanconi anemia that has_material_basis_in homozygous mutat..[+]
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Fanconi anemia complementation group P |
FANCP;
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A Fanconi anemia characterized by increased chromosomal inst..[+]
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Fanconi anemia complementation group Q |
FANCQ;
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A Fanconi anemia that has_material_basis_in compound heteroz..[+]
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Fanconi anemia complementation group R |
FANCR;
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A Fanconi anemia that has_material_basis_in heterozygous mut..[+]
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Fanconi anemia complementation group T |
FANCT;
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A Fanconi anemia that has_material_basis_in compound heteroz..[+]
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Fanconi anemia complementation group U |
FANCU;
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A Fanconi anemia that has_material_basis_in homozygous mutat..[+]
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Fanconi anemia complementation group V |
FANCV;
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A Fanconi anemia that has_material_basis_in homozygous mutat..[+]
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Fanconi syndrome |
adult Fanconi Anemia; adult Fanconi syndrome; De Toni-Fancon..
[+]
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A renal tubular transport disease of the proximal renal tube..[+]
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Fanconi-like syndrome |
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A syndrome characterized by pancytopenia, immune deficiency ..[+]
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Far Eastern spotted fever |
Rickettsia heilongjiangensis spotted fever;
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A spotted fever that has_material_basis_in Rickettsia heilon..[+]
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Farber lipogranulomatosis |
Acid Ceramidase Deficiency; Farber Disease; N-LAURYLSPHINGOS..
[+]
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A lipid storage disease that is characterized by abnormaliti..[+]
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Fazio-Londe disease |
riboflavin transporter deficiency neuronopathy;
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A progressive bulbar palsy that is characterized by motor, s..[+]
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Feingold syndrome |
digital anomalies with short palpebral fissures and atresia ..
[+]
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A syndrome characterized by variable combinations of microce..[+]
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