Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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cone-rod dystrophy 16 |
retinal dystrophy with early macular involvement; ..
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A cone-rod dystrophy that has_material_basis_in ho..[+]
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maturity-onset diabetes of the young type 5 |
A maturity-onset diabetes of the young characteriz..[+]
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2 articles | ||
cerebrocostomandibular syndrome |
rib gap defects with micrognathia; CCMS; cerebro-c..
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A syndrome characterized by severe micrognathia, p..[+]
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neurofibromatosis 1 |
Recklinghausen's neurofibromatosis; familial spina..
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A neurofibromatosis characterized by multiple cafe..[+]
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1 articles | |
histiocytosis-lymphadenopathy plus syndrome |
Rosai–Dorfman disease; Faisalabad histiocytosis; f..
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A syndrome characterized by histiocytosis, hyperpi..[+]
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IVIC syndrome |
radial ray defects, hearing impairment, external o..
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A syndrome characterized by radial ray defect of v..[+]
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SHORT syndrome |
Rieger anomaly-partial lipodystrophy syndrome; Aar..
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A syndrome of multiple anomalies whose name stands..[+]
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congenital vertical talus |
rocker-bottom foot deformity; congenital convex fo..
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A connective tissue disease characterized by dislo..[+]
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autosomal recessive spinocerebellar ataxia 8 |
recessive ataxia of Beauce; ARCA1; autosomal reces..
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An autosomal recessive cerebellar ataxia character..[+]
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diffuse cystic renal dysplasia |
renal dysplasia diffuse cystic; CYSRD; susceptibil..
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A cystic kidney disease characterized by nonsyndro..[+]
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1 articles | |
syndactyly type 3 |
ringand little finger syndactyly; SDTY3; syndactyl..
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A syndactyly characterized by complete and bilater..[+]
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congenital nongoitrous hypothyroidism 7 |
resistance to thyrotropin-releasing hormone syndro..
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A congenital hypothyroidism characterized by norma..[+]
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Diamond-Blackfan anemia 7 |
RPL11-related Diamond-Blackfan anemia; DBA7
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 6 |
RPL5-related Diamond-Blackfan anemia; DBA6
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 17 |
RPS27-related Diamond-Blackfan anemia; DBA17
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 8 |
RPS7-related Diamond-Blackfan anemia; DBA8
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 12 |
RPL15-related Diamond-Blackfan anemia; DBA12
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 5 |
RPL35A-related Diamond-Blackfan anemia; DBA5
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 9 |
RPS10-related Diamond-Blackfan anemia; DBA9
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 19 |
RPL35-related Diamond-Blackfan anemia; DBA19
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-blackfan anemia 3 |
RPS24-related Diamond-Blackfan anemia; DBA3
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 10 |
RPS26-related Diamond-Blackfan anemia; DBA10
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 13 |
RPS29-related Diamond-Blackfan anemia; DBA13
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 4 |
RPS17-related Diamond-Blackfan anemia; DBA4
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 20 |
RPS15A-related Diamond-Blackfan anemia; DBA20
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 11 |
RPL26-related Diamond-Blackfan anemia; DBA11
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 16 |
RPL27-related Diamond-Blackfan anemia; DBA16
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 1 |
RPS19-related Diamond-Blackfan anemia; DBA1
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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Diamond-Blackfan anemia 18 |
RPL18-related Diamond-Blackfan anemia; DBA18
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A Diamond-Blackfan anemia that has_material_basis_..[+]
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X-Linked immunodeficiency 74 |
respiratory insufficiency due to SARS-CoV-2 viral ..
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A T cell deficiency characterized by severe respir..[+]
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Mayer-Rokitansky-Kuster-Hauser syndrome |
Rokitansky syndrome; MRKH syndrome
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A syndrome characterized by aplasia of the uterus ..[+]
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Mayer-Rokitansky-Kuster-Hauser syndrome type 1 |
Rokitansky sequence; congenital absence of uterus ..
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A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+]
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