Rare Disease Library

Situs inversus totalis

Complete situs inversus · Complete situs inversus viscerum

SIX2-related frontonasal dysplasia

SIX2-related FND

Sjögren-Larsson syndrome

Fatty acid alcohol oxidoreductase deficiency

Skeletal dysplasia-epilepsy-short stature syndrome

Gurrieri-Sammito-Bellussi syndrome

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency · EXTL3-related neuro-immuno-skeletal dysplasia syndrome

Skeletal Ewing sarcoma

Osseous Ewing sarcoma

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Skin vascular disease

SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome

Delpire-McNeill syndrome

SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome

Kilquist syndrome

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

SLC35A2-CDG

CDG syndrome type IIm · CDG-IIm

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SCD-EDS · SLC39A13-related spEDS

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

SLC40A1-related hemochromatosis

Sleep-related hypermotor epilepsy

ADNFLE · Autosomal dominant sleep-related hypermotor epilepsy

Slender bone dysplasia

Slow-flow malformation, lymphatic type

Slow-flow malformation, venous type

Rare venous malformation

Small bowel atresia

Atresia of small bowel · SBA

Small cell carcinoma of the bladder

Poorly differentiated neuroendocrine carcinoma of the bladder · SCCB

Small cell carcinoma of the ovary

SCCO · Small cell ovarian carcinoma

Small cell lung cancer

SCLC

Small omphalocele

Minor omphalocele

SMARCA2-related blepharophimosis-intellectual disability syndrome

SMARCA4-deficient sarcoma of thorax

SMARCA4-deficient thoracic sarcoma

Smith-Fineman-Myers syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Smith-McCort dysplasia

Smoldering systemic mastocytosis

SMPX-related distal myopathy

Snakebite envenomation

Sneddon syndrome

Ehrmann-Sneddon syndrome · Livedo racemosa-cerebrovascular accident syndrome

Snowflake vitreoretinal degeneration

Sodium-dependent multivitamin transporter deficiency

Soft and hard cleft palate

Isolated cleft of the soft and hard palate · Combined form of soft and hard cleft palate

Soft tissue sarcoma

Malignant soft tissue tumor · Soft part sarcoma

Solar urticaria

Solid tumor associated with an acquired peripheral neuropathy

Solitary bone cyst

Juvenile bone cyst

Solitary fibrous tumor

SFT

Solitary necrotic nodule of the liver

Hepatic solitary necrotic nodule

Solitary rectal ulcer syndrome

Somatomammotropinoma

Somatoprolactinoma · Somatolactotropinoma

Somatostatinoma

Somatotropic adenoma

Somatotropinoma

Sorsby fundus dystrophy

SMD · Sorsby macular dystrophy