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Rare Disease Database

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Sacrococcygeal Teratoma

Saethre Chotzen Syndrome

Sakati Syndrome

Sandhoff Disease

Santavuori Disease


Schimke Immuno-osseous Dysplasia

Schimmelpenning Syndrome

Schindler disease

Schinzel Giedion Syndrome

Schinzel Syndrome

Schnitzler Syndrome

Schwartz Jampel Syndrome


Sclerosing Mesenteritis

Scott Craniodigital Syndrome

Seckel Syndrome

Segawa Syndrome

Sennetsu Fever

Setleis Syndrome

Severe Chronic Neutropenia

Severe Combined Immunodeficiency

Sheehan syndrome

Short Bowel Syndrome

Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

SHORT Syndrome

Shwachman Diamond Syndrome



Sickle Cell Disease

Simian B Virus Infection

Simple Pulmonary Eosinophilia

Simpson Dysmorphia Syndrome

Singleton Merten syndrome

Sinonasal Undifferentiated Carcinoma


Sjögren Syndrome

Sly Syndrome


Smith Lemli Opitz Syndrome

Smith Magenis Syndrome

Sneddon Syndrome

Sotos Syndrome

Spina Bifida

Spinal Muscular Atrophy

Spinocerebellar Ataxia with Axonal Neuropathy

Split Hand/Split Foot Malformation

Spondyloepiphyseal Dysplasia, Congenital

Spondyloepiphyseal Dysplasia Tarda

Sporadic Inclusion Body Myositis

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