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Disease                  Synonyms                  Description
Dubin-Johnson syndrome
Dubin Johnson syndrome; chronic idiopathic jaundice;
A bilirubin metabolic disorder that involves elevated levels..[+]
Dubowitz syndrome
Dubowitz's syndrome (disorder); Dubowitz's syndrome;
A syndrome that is characterized by microcephaly, growth ret..[+]
Duchenne muscular dystrophy
Muscular dystrophy, Duchenne;
A muscular dystrophy that has_material_basis_in X-linked mut..[+]
Dyggve-Melchior-Clausen disease
DMC disease; pseudo-Morquio disease type I;
A spondyloepimetaphyseal dysplasia characterized by clawed f..[+]
EAST syndrome
epilepsy, ataxia, sensorineural deafness and tubulopathy; Se.. [+]
A syndrome characterize by seizures, sensorineural deafness,..[+]
EEC syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syn.. [+]
A syndrome characterized by ectrodactyly, ectodermal dysplas..[+]
Eastern equine encephalitis
EEE; Neuroinvasive Eastern equine encephalitis virus infecti.. [+]
A viral infectious disease that results in inflammation loca..[+]
Ebola hemorrhagic fever
Ebola virus disease;
A viral infectious disease that is a hemorrhagic fever, has_..[+]
Ebstein anomaly
Ebstein's anomaly; Ebstein's anomaly (disorder) [Ambiguous];.. [+]
A tricuspid valve disease that is a congenital heart defect ..[+]
Edwards syndrome
Complete trisomy 18 syndrome (disorder); E3 Trisomy; Complet.. [+]
A chromosomal duplciation syndrome that is characterized by ..[+]
Ehlers-Danlos syndrome
Cutis hyperelastica; elastic skin;
A collagen disease that is characterized by extremely flexib..[+]
Ehlers-Danlos syndrome progeroid type
defective biosynthesis of proteodermatan sulfate; XGPT defic.. [+]
An Ehlers-Danlos syndrome that is characterized by aged appe..[+]
Ehrlich tumor carcinoma
Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich's tumour;.. [+]
n_a
Eiken syndrome
bone modeling defect of hands and feet; Eiken skeletal dyspl.. [+]
A bone development disease characterized by severely delayed..[+]
Ellis-Van Creveld syndrome
Chondroectodermal dysplasia; Chondroectodermal dysplasia (di.. [+]
A syndrome characterized by short limbs, short ribs, postaxi..[+]
Elsahy-Waters syndrome
branchioskeletogenital syndrome;
A syndrome that is characterized by brachycephaly, facial as..[+]
Emery-Dreifuss muscular dystrophy
EDMD;
A muscular dystrophy that chiefly affects muscles used for m..[+]
Epstein-Barr virus hepatitis
A viral hepatitis that results_in inflammation, located_in l..[+]
Erdheim-Chester disease
n_a
Evans' syndrome
n_a
Ewing sarcoma
Ewing's sarcoma/peripheral primitive neuroectodermal tumor; .. [+]
A bone sarcoma that has_material_basis in neural crest cells..[+]
Ewing sarcoma of bone
bone Ewing's sarcoma; bone localized Ewing sarcoma; bone loc.. [+]
A peripheral primitive neuroectodermal tumor that is located..[+]
FG syndrome
Keller syndrome; Opitz-Kaveggia syndrome;
A syndrome characterized by retardation, hyperactivity, hypo..[+]
Fabry disease
Alpha-galactosidase A deficiency; Angiokeratoma Corporis Dif.. [+]
A sphingolipidosis that is characterized by the buildup of g..[+]
Fanconi anemia
Fanconi panmyelopathy; Fanconi's anemia; Fanconi pancytopeni.. [+]
A congenital hypoplastic anemia characterized by progressive..[+]
Fanconi anemia complementation group A
FANCA;
A Fanconi anemia that has_material_basis_in homozygous or co..[+]
Fanconi anemia complementation group B
FA2; FACB; Fanconi pancytopenia type 2; FANCB;
A Fanconi anemia that has_material_basis_in mutation in the ..[+]
Fanconi anemia complementation group C
FACC; FANCC; Fanconi pancytopenia type 3; FA3;
A Fanconi anemia that has_material_basis_in homozygous or co..[+]
Fanconi anemia complementation group D1
FAD1; FANCD1;
A Fanconi anemia that has_material_basis_in homozygous or co..[+]
Fanconi anemia complementation group D2
FA4; FANCD2; Fanconi pancytopenia type 4; FAD2;
A Fanconi anemia that has_material_basis_in compound heteroz..[+]
Fanconi anemia complementation group E
FACE; FANCE;
A Fanconi anemia that has_material_basis_in homozygous mutat..[+]
Fanconi anemia complementation group F
FANCF;
A Fanconi anemia that has_material_basis_in homozygous or co..[+]
Fanconi anemia complementation group G
FANCG;
A Fanconi anemia that has_material_basis_in homozygous or co..[+]
Fanconi anemia complementation group I
FANCI;
A Fanconi anemia that has_material_basis_in homozygous or co..[+]
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 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..[+]

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