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Disease Synonyms Description Articles Phenotypes
Donohue syndrome
Leprechaunism;
n_a
Dowling-Degos disease
dark dot disease; reticular pigment anomaly of fle.. [+]
A pigmentation disease characterized by a reticula..[+]
Down syndrome
Complete trisomy 21 syndrome (disorder); Down's sy.. [+]
A chromosomal disease that is characterized by fla..[+]
Doyne honeycomb retinal dystrophy
DHRD; Doyne honeycomb degeneration of retina;
A retinal drusen characterized by yellow-white dep..[+]
Dressler's syndrome
Dressler syndrome; Postmyocardial infarction syndr.. [+]
A pericarditis characterized by inflammation, occu..[+]
Duane retraction syndrome
Duane's syndrome; Stilling-Turk-Duane syndrome;
n_a
Duane-radial ray syndrome
acrorenocular syndrome; DR syndrome; Duane anomaly.. [+]
An autosomal dominant disease characterized by upp..[+]
Dubin-Johnson syndrome
chronic idiopathic jaundice; Dubin Johnson syndrom.. [+]
A bilirubin metabolic disorder that involves eleva..[+]
Dubowitz syndrome
Dubowitz's syndrome (disorder);
A syndrome that is a rare genetic disorder charact..[+]
Duchenne muscular dystrophy
Muscular dystrophy, Duchenne;
A muscular dystrophy that has_material_basis_in X-..[+]
Dyggve-Melchior-Clausen disease
DMC disease; pseudo-Morquio disease type I;
A spondyloepimetaphyseal dysplasia characterized b..[+]
EAST syndrome
epilepsy, ataxia, sensorineural deafness and tubul.. [+]
A syndrome characterize by seizures, sensorineural..[+]
EEC syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-.. [+]
An autosomal dominant disease characterized by ect..[+]
EZB diffuse large B-cell lymphoma
EZB DLBCL;
A diffuse large B-cell lymphoma that is categorize..[+]
Eastern equine encephalitis
EEE; Neuroinvasive Eastern equine encephalitis vir.. [+]
A viral infectious disease that results_in inflamm..[+]
Ebola hemorrhagic fever
Ebola virus disease;
A viral infectious disease that is a hemorrhagic f..[+]
Ebstein anomaly
Ebstein's anomaly; Ebstein's anomaly (disorder) [A.. [+]
A tricuspid valve disease that is a congenital hea..[+]
Edwards syndrome
Complete trisomy 18 syndrome (disorder); E3 Trisom.. [+]
n_a
Ehlers-Danlos syndrome
Cutis hyperelastica; elastic skin;
A collagen disease that is characterized by extrem..[+]
Ehlers-Danlos syndrome arthrochalasia type 1
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome classic-like 2
An Ehlers-Danlos syndrome that has_material_basis_..[+]
Ehlers-Danlos syndrome musculocontractural type 1
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome spondylodysplastic type 2
defective biosynthesis of proteodermatan sulfate; .. [+]
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome spondylodysplastic type 3
An Ehlers-Danlos syndrome that has_material_basis_..[+]
Ehrlich tumor carcinoma
Ehrlich's tumor;
n_a
Ellis-Van Creveld syndrome
Chondroectodermal dysplasia; Chondroectodermal dys.. [+]
n_a
Emery-Dreifuss muscular dystrophy
EDMD;
A muscular dystrophy that chiefly affects muscles ..[+]
Epstein-Barr virus hepatitis
A viral hepatitis that results_in inflammation, lo..[+]
Erdheim-Chester disease
n_a
Evans' syndrome
n_a
Ewing sarcoma
Ewing's family localized tumor; Ewing's sarcoma/pe.. [+]
A bone cancer that has_material_basis in neural cr..[+]
FG syndrome
Keller syndrome; Opitz-Kaveggia syndrome;
An X-linked disease characterized by retardation, ..[+]
FTDALS2
frontotemporal dementia and/or amyotrophic lateral.. [+]
An amyotrophic lateral sclerosis that has material..[+]
FTDALS4
frontotemporal dementia and/or amyotrophic lateral.. [+]
An amyotrophic lateral sclerosis that has material..[+]
Fabry disease
alpha galactosidase deficiency; Alpha-galactosidas.. [+]
n_a
Fanconi anemia
Fanconi pancytopenia; Fanconi panmyelopathy; Fanco.. [+]
A congenital hypoplastic anemia characterized by p..[+]
Fanconi anemia complementation group A
FANCA;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group B
FA2; FACB; FANCB; Fanconi pancytopenia type 2;
A Fanconi anemia that has_material_basis_in mutati..[+]
Fanconi anemia complementation group C
FA3; FACC; FANCC; Fanconi pancytopenia type 3;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group D1
FAD1; FANCD1;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group D2
FA4; FAD2; FANCD2; Fanconi pancytopenia type 4;
A Fanconi anemia that has_material_basis_in compou..[+]
Fanconi anemia complementation group E
FACE; FANCE;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group F
FANCF;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group G
FANCG;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group I
FANCI;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group J
FANCJ;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group L
FANCL;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group N
FANCN;
A Fanconi anemia that has_material_basis_in compou..[+]
Fanconi anemia complementation group O
FANCO;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group P
FANCP;
A Fanconi anemia characterized by increased chromo..[+]

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