Rare Disease Library

Salt-and-pepper syndrome

SAMD9L-associated autoinflammatory syndrome

SAMD9L-SAAD

Sandhoff disease

Sandhoff disease, adult form

GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form

Sandhoff disease, infantile form

GM2 gangliosidosis, Sandhoff variant, infantile form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form

Sandhoff disease, juvenile form

Beta-hexosaminidase subunit beta deficiency, juvenile form · GM2 gangliosidosis, Sandhoff variant, juvenile form

Sandifer syndrome

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

SAPHO syndrome

Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

Sarcocystosis

Sarcosporidiosis

Sarcoidosis

Besnier-Boeck-Schaumann disease · Boeck sarcoid

Sarcoma of cervix uteri

Cervical malignant mesenchymal tumor · Cervical sarcoma

Sarcoma of the corpus uteri

Sarcosinemia

Sarcosine dehydrogenase complex deficiency

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Satoyoshi syndrome

Komuragaeri disease

Say-Barber-Miller syndrome

Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

SBDS-related severe neonatal spondylometaphyseal dysplasia

Spondylometaphyseal dysplasia, Sedaghatian-like type · SBDS-related severe neonatal SMD

Scalp defects-postaxial polydactyly syndrome

SCALP syndrome

Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome

Scalp-ear-nipple syndrome

Finlay-Marks syndrome

Scapuloperoneal spinal muscular atrophy

Kugelberg-Welander disease · Neurogenic scapuloperoneal amyotrophy, New England type

SCARF syndrome

Scarlet fever

Scarlatina

Scarring in glaucoma filtration surgical procedures

Scedosporiosis

Schaaf-Yang syndrome

SYS

Scheie syndrome

MPS1S · MPSIS

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

Schilder disease

Myelinoclastic diffuse sclerosis

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Schinzel-Giedion syndrome

SGS

Schisis association

Schistosomiasis

Bilharziasis

Schizencephaly

Schneckenbecken dysplasia

Chondrodysplasia with snail-like pelvis · SLC35D1-CDG

Schnitzler syndrome

Chronic urticaria with gammopathy · Chronic urticaria with macroglobulinemia

Schnyder corneal dystrophy

Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder

Schöpf-Schulz-Passarge syndrome

Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Scleredema

Buschke scleredema

Scleroderma

Scleromyxedema

Arndt-Gottron disease · Generalized lichenoid papular eruption