Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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spondyloepiphyseal dysplasia Kimberley type |
SEDK
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A spondyloepiphyseal dysplasia that has_material_b..[+]
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spondyloepiphyseal dysplasia Kondo-Fu type |
SEDKF; SED with elevated blood lysosomal enzymes
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A spondyloepiphyseal dysplasia that has_material_b..[+]
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spondyloepiphyseal dysplasia tarda |
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A spondyloepiphyseal dysplasia characterized by im..[+]
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spondyloepiphyseal dysplasia with punctate corneal dystrophy |
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A spondyloepiphyseal dysplasia characterized by sp..[+]
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spondyloepiphyseal dysplasia-brachydactyly and distinctive speech |
A spondyloepiphyseal dysplasia characterized by sp..[+]
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spondyloepiphyseal dysplasia Nishimura type |
SEDN
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A spondyloepiphyseal dysplasia characterized by di..[+]
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spondyloepiphyseal dysplasia tarda with characteristic facies |
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A spondyloepiphyseal dysplasia tarda characterized..[+]
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spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis |
SHILCA syndrome
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A syndrome characterized by early-onset retinal de..[+]
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spondyloepiphyseal dysplasia tarda with intellectual disability |
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A spondyloepiphyseal dysplasia tarda characterized..[+]
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spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability |
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A syndrome characterized by spondyloepiphyseal dys..[+]
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spondylometaphyseal dysplasia |
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An osteochondrodysplasia characterized by platyspo..[+]
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spondylometaphyseal dysplasia Algerian type |
A spondylometaphyseal dysplasia characterized by d..[+]
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spondylometaphyseal dysplasia corner fracture type |
A spondylometaphyseal dysplasia characterized by f..[+]
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spondylometaphyseal dysplasia Sedaghatian type |
A spondylometaphyseal dysplasia characterized by n..[+]
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spondylometaphyseal dysplasia with cone-rod dystrophy |
spondylometaphyseal dysplasia-cone-rod dystrophy s..
[+]
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A spondylometaphyseal dysplasia characterized by p..[+]
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spondylometaphyseal dysplasia type A4 |
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A spondylometaphyseal dysplasia characterized by s..[+]
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spondylometaphyseal dysplasia East African type |
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A spondylometaphyseal dysplasia characterized by o..[+]
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spondylometaphyseal dysplasia with corneal dystrophy |
SMDCD
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A spondylometaphyseal dysplasia characterized by s..[+]
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spondylometaphyseal dysplasia Megarbane-Dagher-Melike type |
SMDMDM; Megarbane-Dagher-Melike type chondrodyspla..
[+]
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A spondylometaphyseal dysplasia that has_material_..[+]
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spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism |
spondylometaphyseal dysplasia-bowed forearms-facia..
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A spondylometaphyseal dysplasia characterized by s..[+]
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sarcosinemia |
An amino acid metabolic disorder characterized by ..[+]
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Schindler disease |
alpha-N-acetylgalactosaminidase deficiency; NAGA d..
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A lysosomal storage disease that has_material_basi..[+]
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Schindler disease type 1 |
alpha-N-acetylgalactosaminidase deficiency type 1; ..
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A Schindler disease characterized by infantile ons..[+]
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Schindler disease type 3 |
alpha-N-acetylgalactosaminidase deficiency type 3; ..
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A Schindler disease characterized by mild to moder..[+]
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spermatogenic failure 54 |
SPGF54
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A spermatogenic failure characterized by male infe..[+]
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spermatogenic failure 56 |
SPGF56
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A spermatogenic failure characterized by male infe..[+]
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spermatogenic failure 55 |
SPGF55
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A spermatogenic failure characterized by male infe..[+]
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spermatogenic failure 57 |
SPGF57
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A spermatogenic failure characterized by male infe..[+]
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spermatogenic failure 61 |
SPGF61
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A spermatogenic failure that is characterized by m..[+]
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spermatogenic failure 62 |
SPGF62
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A spermatogenic failure that is characterized by m..[+]
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spermatogenic failure 58 |
SPGF58
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A spermatogenic failure characterized by multiple ..[+]
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spermatogenic failure 64 |
SPGF64
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A spermatogenic failure characterized by male infe..[+]
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spermatogenic failure 65 |
SPGF65
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A spermatogenic failure characterized by male infe..[+]
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spermatogenic failure 60 |
SPGF 60
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A spermatogenic failure that is characterized by m..[+]
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spermatogenic failure 63 |
SPGF63
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A spermatogenic failure characterized by male infe..[+]
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spermatogenic failure 59 |
SPGF59
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A spermatogenic failure that is characterized by m..[+]
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short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies |
SSFSC
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A syndrome characterized by reduced growth, thin a..[+]
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spondylocostal dysostosis 6 |
SCDO6; autosomal recessive spondylocostal dysostos..
[+]
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A spondylocostal dysostosis that has_material_basi..[+]
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spondylocostal dysostosis 3 |
SCDO3; autosomal recessive spondylocostal dysostos..
[+]
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A spondylocostal dysostosis that has_material_basi..[+]
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spondylocostal dysostosis 2 |
SCDO2; autosomal recessive spondylocostal dysostos..
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A spondylocostal dysostosis that has_material_basi..[+]
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spondylocostal dysostosis 5 |
SCDO5
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A spondylocostal dysostosis that has_material_basi..[+]
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spondylocostal dysostosis 4 |
SCDO4; autosomal recessive spondylocostal dysostos..
[+]
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A spondylocostal dysostosis that has_material_basi..[+]
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spondylocostal dysostosis 1 |
SCDO1; autosomal recessive spondylocostal dysostos..
[+]
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A spondylocostal dysostosis that has_material_basi..[+]
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vaginal squamous papilloma |
squamous papilloma of vagina
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A vaginal benign neoplasm that is characterized by..[+]
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exostosis |
swimmer's exostosis; bone spur; bony outgrowth; os..
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A hyperostosis that involves formation of new bone..[+]
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1 articles | |
enamel caries |
simple dental cavity; Dental caries limited to ena..
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n_a
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hemangioma of spleen |
Splenic hemangioma; hemangioma of spleen (disorder..
[+]
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n_a
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angiokeratoma |
skin angiokeratoma; Angiokeratoma (morphologic abn..
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n_a
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nephrolithiasis |
Stone - kidney/ureter; calculus of kidney and uret..
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A kidney disease characterized by the formation of..[+]
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5 articles | |
prion disease |
Spongiform Encephalopathy; Prion disease pathway; ..
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A brain disease that is characterized by brain dam..[+]
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