Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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DOORS syndrome |
A syndrome characterized by sensorineural deafness..[+]
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dihydropyrimidinase deficiency |
A pyrimidine metabolic disorder characterized by a..[+]
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diffuse cystic renal dysplasia |
CYSRD; renal dysplasia diffuse cystic; susceptibil..
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A cystic kidney disease characterized by nonsyndro..[+]
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1 articles | |
Diamond-Blackfan anemia 7 |
DBA7; RPL11-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 6 |
DBA6; RPL5-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 17 |
DBA17; RPS27-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 8 |
DBA8; RPS7-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 12 |
DBA12; RPL15-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 5 |
DBA5; RPL35A-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 9 |
DBA9; RPS10-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 2 |
DBA2
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 19 |
DBA19; RPL35-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-blackfan anemia 3 |
DBA3; RPS24-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 10 |
DBA10; RPS26-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 13 |
DBA13; RPS29-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 4 |
DBA4; RPS17-related Diamond-Blackfan anemia
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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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 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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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 |
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