Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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sepiapterin reductase deficiency |
A dystonia characterized by sustained muscle contr..[+]
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subcortical band heterotopia |
subcortical laminar heterotopia; band heterotopia; ..
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A congenital nervous system abnormality characteri..[+]
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Sveinsson chorioretinal atrophy |
SCRA; atrophia areata; helicoid peripapillary chor..
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An eye disease characterized by presence in the fu..[+]
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sensory ataxic neuropathy, dysarthria, and ophthalmoparesis |
SANDO; autosomal recessive sensory ataxic neuropat..
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A mitochondrial metabolism disease characterized b..[+]
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spondyloepiphyseal dysplasia Maroteaux type |
An osteochondrodysplasia characterized by dysplast..[+]
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spondylometaphyseal dysplasia Kozlowski type |
A spondylometaphyseal dysplasia characterized by v..[+]
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syndromic microphthalmia 1 |
syndromic microphthalmia 4; Lenz dysplasia; Lenz m..
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A syndromic microphthalmia characterized by unilat..[+]
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syndromic microphthalmia 14 |
colobomatous microphthalmia-rhizomelic dysplasia s..
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A syndromic microphthalmia characterized by microp..[+]
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syndromic microphthalmia 5 |
syndromic microphthalmia/anophthalmia due to OTX2 ..
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A syndromic microphthalmia characterized by unilat..[+]
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syndromic microphthalmia 2 |
syndromic microphthalmia type 2; ANOP2; cataract-m..
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A syndromic microphthalmia characterized by dental..[+]
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syndactyly type 1 |
syndactyly, type 1, with or without craniosynostos..
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A syndactyly characterized by complete or partial ..[+]
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syndactyly type 3 |
A syndactyly characterized by complete and bilater..[+]
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spermatogenic failure 33 |
SPGF33
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A spermatogenic failure characterized by multiple ..[+]
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spermatogenic failure 43 |
SPGF43
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A spermatogenic failure characterized by multiple ..[+]
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spermatogenic failure 31 |
SPGF31
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A male failure due to acephalic spermatozoa that i..[+]
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spermatogenic failure 39 |
SPGF39
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A spermatogenic failure characterized by multiple ..[+]
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spermatogenic failure 24 |
SPGF24
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A spermatogenic failure characterized by multiple ..[+]
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Sotos syndrome 3 |
SOTOS3
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A Sotos syndrome that has_material_basis_in homozy..[+]
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SHOX-related short stature |
idiopathic familial short stature
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A bone development disease characterized by height..[+]
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severe congenital neutropenia 2 |
SCN2
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An autosomal dominant severe congenital neutropeni..[+]
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severe congenital neutropenia 3 |
SCN3; infantile agranulocytosis; Kostmann disease; ..
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A severe congenital neutropenia characterized by b..[+]
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spermatogenic failure 47 |
SPGF47
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A spermatogenic failure characterized by asthenote..[+]
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Schinzel type phocomelia |
A syndrome characterized by severe malformations o..[+]
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spondyloperipheral dysplasia |
spondyloperipheral dysplasia-short ulna syndrome
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An osteochondrodysplasia characterized by platyspo..[+]
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spondyloepimetaphyseal dysplasia with joint laxity |
SEMDJL
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A spondyloepimetaphyseal dysplasia characterized b..[+]
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spermatogenic failure 49 |
SPGF98
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A spermatogenic failure characterized by multiple ..[+]
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spermatogenic failure 51 |
SPGF51
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A spermatogenic failure characterized by severe as..[+]
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spondyloepiphyseal dysplasia-brachydactyly and distinctive speech |
A spondyloepiphyseal dysplasia characterized by sp..[+]
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spondylometaphyseal dysplasia Sedaghatian type |
A spondylometaphyseal dysplasia characterized by n..[+]
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spondylometaphyseal dysplasia type A4 |
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A spondylometaphyseal dysplasia characterized by s..[+]
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spondylometaphyseal dysplasia with corneal dystrophy |
SMDCD
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A spondylometaphyseal dysplasia characterized by s..[+]
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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 62 |
SPGF62
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A spermatogenic failure that is characterized by m..[+]
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spermatogenic failure 64 |
SPGF64
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A spermatogenic failure characterized by male infe..[+]
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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 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; or..
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A hyperostosis that involves formation of new bone..[+]
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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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n_a
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prion disease |
Spongiform Encephalopathy; Prion disease pathway; ..
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A brain disease that is characterized by brain dam..[+]
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juvenile rheumatoid arthritis |
systemic juvenile rheumatoid arthritis; acute juve..
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A rheumatoid arthritis that involves an autoimmune..[+]
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progressive supranuclear palsy |
Steele-Richardson-Olszewski syndrome; progressive ..
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A movement disease characterized by serious and pr..[+]
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dentin sensitivity |
Sensitive dentin
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n_a
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female stress incontinence |
Stress incontinence - female; female urinary stres..
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n_a
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cork-handlers' disease |
Suberosis; cork-handlers' disease or lung; cork-ha..
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An extrinsic allergic alveolitis caused by inhalat..[+]
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fascioliasis |
Sheep liver fluke infection; Fasciola hepatica inf..
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A parasitic helminthiasis infectious disease that ..[+]
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mitral valve prolapse |
systolic click-murmur syndrome; Barlow's syndrome; ..
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A mitral valve disease where one or both of the cu..[+]
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