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Disease Synonyms Description Articles Phenotypes
Diamond-Blackfan anemia 12
DBA12; RPL15-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 13
DBA13; RPS29-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
DBA14;
A Diamond-Blackfan anemia characterized by Diamond..[+]
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
DBA15;
A Diamond-Blackfan anemia characterized by Diamond..[+]
Diamond-Blackfan anemia 16
DBA16; RPL27-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 17
DBA17; RPS27-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 18
DBA18; RPL18-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 19
DBA19; RPL35-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 2
DBA2;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 20
DBA20; RPS15A-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 4
DBA4; RPS17-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 5
DBA5; RPL35A-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 6
DBA6; RPL5-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 7
DBA7; RPL11-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 8
DBA8; RPS7-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-Blackfan anemia 9
DBA9; RPS10-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Diamond-blackfan anemia 3
DBA3; RPS24-related Diamond-Blackfan anemia;
A Diamond-Blackfan anemia that has_material_basis_..[+]
Dieulafoy lesion
Dieulafoy lesion (hemorrhagic) of intestine; dieul.. [+]
n_a
Donnai-Barrow syndrome
diaphragmatic hernia-exomphalos-hypertelorism synd.. [+]
A syndrome that is characterized by facial and ocu..[+]
Donohue syndrome
Leprechaunism;
A syndrome that is characterized by protuberant an..[+]
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..[+]
7 articles
Doyne honeycomb retinal dystrophy
DHRD; Doyne honeycomb degeneration of retina;
A retinal drusen characterized by yellow-white dep..[+]
Dravet syndrome
DEE6; developmental and epileptic encephalopathy 6.. [+]
A developmental and epileptic encephalopathy chara..[+]
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; Okihiro syndr.. [+]
A syndrome characterized by upper limb anomalies, ..[+]
Dubin-Johnson syndrome
Dubin Johnson syndrome; chronic idiopathic jaundic.. [+]
A bilirubin metabolic disorder that involves eleva..[+]
Dubowitz syndrome
Dubowitz's syndrome (disorder); Dubowitz's syndrom.. [+]
A syndrome that is characterized by microcephaly, ..[+]
Duchenne muscular dystrophy
Muscular dystrophy, Duchenne;
A muscular dystrophy that has_material_basis_in X-..[+]
1 articles
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 characterized by seizures, sensorineura..[+]
4 articles
EEC syndrome
ectrodactyly, ectodermal dysplasia, and cleft lip-.. [+]
A syndrome characterized by ectrodactyly, ectoderm..[+]
EWSR1-negative small round cell tumor
EWSR1-Negative Small Blue Round Cell Tumor;
A small cell sarcoma that is characterized by the ..[+]
EZB diffuse large B-cell lymphoma
EZB DLBCL;
A diffuse large B-cell lymphoma that is categorize..[+]
EZB-MYC+ diffuse large B-cell lymphoma
EZB-MYC+ DLBCL;
An EZB diffuse large B-cell lymphoma that expresse..[+]
EZB-MYC- diffuse large B-cell lymphoma
EZB-MYC- DLBCL;
An EZB diffuse large B-cell lymphoma that does not..[+]
Eastern equine encephalitis
EEE; Neuroinvasive Eastern equine encephalitis vir.. [+]
A viral infectious disease that results in inflamm..[+]
1 articles
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.. [+]
A chromosomal duplciation syndrome that is charact..[+]
Ehlers-Danlos syndrome
Cutis hyperelastica; elastic skin;
A collagen disease that is characterized by extrem..[+]
2 articles 24 matches
Ehlers-Danlos syndrome arthrochalasia type 1
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome arthrochalasia type 2
An Ehlers-Danlos syndrome that has_material_basis_..[+]
Ehlers-Danlos syndrome cardiac valvular type
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome, type 1 (disorder); type I .. [+]
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome classic type 2
An Ehlers-Danlos syndrome that has_material_basis_..[+]
Ehlers-Danlos syndrome classic-like 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 dermatosparaxis type
An Ehlers-Danlos syndrome that is characterized by..[+]

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