Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Diamond-Blackfan anemia 20 |
DBA20; RPS15A-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 11 |
DBA11; RPL26-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 16 |
DBA16; RPL27-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
DBA15
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A Diamond-Blackfan anemia characterized by Diamond..[+]
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Diamond-Blackfan anemia 1 |
DBA1; RPS19-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 18 |
DBA18; RPL18-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
DBA14
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A Diamond-Blackfan anemia characterized by Diamond..[+]
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deafness, dystonia, and cerebral hypomyelination |
severe motor and intellectual disabilities-sensori..
[+]
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A syndrome characterized by motor and intellectual..[+]
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De Sanctis-Cacchione syndrome |
xeroderma pigmentosum with neurologic manifestatio..
[+]
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A xeroderma pigmentosum characterized by xeroderma..[+]
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distal arthrogryposis type 1C |
DA1C
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A distal arthrogryposis type 1 characterized by co..[+]
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developmental and epileptic encephalopathy |
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An electroclinical syndrome characterized by epile..[+]
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2 articles | |
developmental and epileptic encephalopathy 67 |
DEE67; early infantile epileptic encephalopathy 67..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 68 |
DEE68; early infantile epileptic encephalopathy 68..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 69 |
DEE69; early infantile epileptic encephalopathy 69..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 70 |
DEE70; early infantile epileptic encephalopathy 70..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 71 |
DEE71; early infantile epileptic encephalopathy 71..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 72 |
DEE72; early infantile epileptic encephalopathy 72..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 73 |
DEE73; early infantile epileptic encephalopathy 73..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 74 |
DEE74; early infantile epileptic encephalopathy 74..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 75 |
DEE75; early infantile epileptic encephalopathy 75..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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1 articles | |
developmental and epileptic encephalopathy 76 |
A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 78 |
DEE78; early infantile epileptic encephalopathy 78..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 79 |
DEE79; early infantile epileptic encephalopathy 79..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 80 |
DEE80; early infantile epileptic encephalopathy 80..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 81 |
DEE81; early infantile epileptic encephalopathy 81..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 83 |
DEE83; early infantile epileptic encephalopathy 83..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 84 |
DEE84; early infantile epileptic encephalopathy 84..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 86 |
DEE86; early infantile epileptic encephalopathy 86..
[+]
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A developmental and epileptic encephalopathy that ..[+]
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developmental and epileptic encephalopathy 87 |
DEE87; early infantile epileptic encephalopathy 87..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 88 |
DEE88; early infantile epileptic encephalopathy 88..
[+]
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A developmental and epileptic encephalopathy that ..[+]
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developmental and epileptic encephalopathy 89 |
DEE89; early infantile epileptic encephalopathy 89..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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developmental and epileptic encephalopathy 93 |
DEE93; IECEE3; infantile or early childhood epilep..
[+]
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A developmental and epileptic encephalopathy chara..[+]
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mitral valve disease |
disease of mitral valve; Rheumatic disease of mitr..
[+]
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n_a
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1 articles | |
connective tissue disease |
disorder of connective tissue; connective tissue d..
[+]
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A musculoskeletal system disease that affects tiss..[+]
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64 articles | 69 matches |
hematopoietic system disease |
A disease of anatomical entity that has_material_b..[+]
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34 articles | 5 matches | |
lymphatic system disease |
An immune system disease that is located_in the ly..[+]
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6 articles | ||
gastrointestinal system disease |
digestive system disorder; alimentary system disea..
[+]
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A disease of anatomical entity that is located_in ..[+]
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58 articles | 14 matches |
enamel caries |
Dental caries limited to enamel; primary dental ca..
[+]
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n_a
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accessory nerve disease |
A glossopharyngeal nerve disease that is character..[+]
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olfactory nerve disease |
A brain disease that is characterized by nerve inj..[+]
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1 articles | ||
liver disease |
n_a
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9 articles | 3 matches | |
scleroderma |
dermatosclerosis
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A rheumatic disease that involves the abnormal gro..[+]
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1 articles | |
aortic disease |
An artery disease that is characterized by degener..[+]
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5 articles | ||
thymus gland disease |
disease of thymus gland
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n_a
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third cranial nerve disease |
disorder of oculomotor nerve; Oculomotor nerve dis..
[+]
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n_a
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biotinidase deficiency |
A multiple carboxylase deficiency that involves a ..[+]
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Hartnup disease |
deficiency of tryptophan oxygenase; neutral amino ..
[+]
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An amino acid metabolic disorder that is caused by..[+]
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Fanconi syndrome |
A renal tubular transport disease of the proximal ..[+]
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2 articles | ||
filariasis |
A parasitic helminthiasis infectious disease that ..[+]
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exotropia |
n_a
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