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Results 351 - 400 of 8699 results

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Disease Synonyms Description Articles Phenotypes
Cryptococcal meningitis
A fungal meningitis that has_material_basis in Cry..[+]
Cytomegalovirus retinitis
CMV retinitis;
A retinitis that has_material_basis_in Cytomegalov..[+]
D-2-hydroxyglutaric aciduria
An 2-hydroxyglutaric aciduria that involves develo..[+]
D-bifunctional protein deficiency
A peroxisomal disease characterized by, in severe ..[+]
DIC in newborn
Disseminated intravascular coagulation in newborn;.. [+]
n_a
DMD-related dilated cardiomyopathy
A dilated cardiomyopathy that has_material_basis_i..[+]
DNA ligase IV deficiency
LIG4 Syndrome;
A combined T cell and B cell immunodeficiency that..[+]
Dandy-Walker syndrome
Atresia of foramina of Magendie and Luschka;
A cerebellar disease that is characterized by hypo..[+]
Danon disease
ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II;
n_a
De Quervain disease
Radial styloid tenosynovitis; Tenosynovitis, de Qu.. [+]
n_a
Dent disease
Dent disease 1; Dent disease 2; Dent's disease;
A renal tubular transport disease that is characte..[+]
Denys-Drash syndrome
An autosomal dominant disease that is characterize..[+]
Desbuquois dysplasia
Desbuquois syndrome; micromelic dwarfism with vert.. [+]
An osteochondrodysplasia characterized by short st..[+]
DiGeorge syndrome
DiGeorge sequence (disorder); DiGeorge's syndrome;.. [+]
A T cell deficiency disease that is the result of ..[+]
Diamond-Blackfan anemia
Blackfan - Diamond syndrome; chronic constitutiona.. [+]
A congenital hypoplastic anemia that is characteri..[+]
Dieulafoy lesion
Dieulafoy lesion (hemorrhagic) of intestine; dieul.. [+]
n_a
Donnai-Barrow syndrome
DBS/FOAR syndrome; diaphragmatic hernia, exomphalo.. [+]
An autosomal recessive disease characterized by fa..[+]
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..[+]
Dravet syndrome
severe myoclonic epilepsy in infancy; SMEI;
An epilepsy that is characterized by frequent febr..[+]
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..[+]
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 progeroid type
defective biosynthesis of proteodermatan sulfate; .. [+]
An Ehlers-Danlos syndrome that is characterized by..[+]
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, ..[+]
FTDALS1
ALSFTD; amyotrophic lateral sclerosis and/or front.. [+]
An amyotrophic lateral sclerosis that has material..[+]
FTDALS2
frontotemporal dementia and/or amyotrophic lateral.. [+]
An amyotrophic lateral sclerosis that has material..[+]
FTDALS3
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

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