Rare Disease Library

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Shoulder and thorax deformity-congenital heart disease syndrome

SHOX-related short stature

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Sialidosis

Sialidosis type 1

Cherry-red spot-myoclonus syndrome · Lipomucopolysaccharidosis

Sialidosis type 2

Infantile dysmorphic sialidosis

Sialuria

Sialuria, French type

SIBIDS syndrome

Trichothiodystrophy-osteosclerosis syndrome

Sickle cell disease

HbSS disease · SCD

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

HbSS disease · SCD

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

Sickle cell S-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease

Sickle cell S-O Arab disease

Hemoglobin S-O Arab disease · HbS-O Arab disease

Sickle cell S-other specified hemoglobin variant

HbS-other specified hemoglobin variant disease

Sickle cell-beta plus-thalassemia

HbS-beta plus-thalassemia · HbS-beta+ thalassemia

Sickle cell-beta zero-thalassemia

HbS-beta0 thalassemia · HbS-beta zero-thalassemia

Sickle cell-beta-thalassemia disease

HbS-beta-thalassemia syndrome

Sideroblastic anemia

Siegler-Brewer-Carey syndrome

Silent pituitary adenoma

Silent sinus syndrome

Imploding antrum syndrome · CMA grade 3

Sillence syndrome

Brachydactyly-symphalangism syndrome

Silver-Russell syndrome

Silver-Russell dwarfism

Silver-Russell syndrome due to 11p15 microduplication

Silver-Russell syndrome due to 7p11.2p13 microduplication

Silver-Russell syndrome due to 7p11.2-p13 microduplication · Silver-Russell syndrome due to dup(7)(p11.2p13)

Silver-Russell syndrome due to a point mutation

Silver-Russell syndrome due to an imprinting defect of 11p15

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

UPD(11)mat

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

UPD(7)mat

SIM1-related Prader-Willi-like syndrome

SIM1-related PWLS

Simple cryoglobulinemia

Cryoglobulinemia type 1

Simple vascular malformation

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

Simpson-Golabi-Behmel syndrome type 2

Lethal variant of Simpson-Golabi-Behmel syndrome · SGBS2

SIN3-related intellectual disability syndrome due to a point mutation

Sinding-Larsen-Johansson disease

Aseptic necrosis of patella · Osteochondrosis of patella

Single isolated optic neuritis

SION · Isolated single optic neuritis

Single-organ polyarteritis nodosa

Single-organ PAN · Single-organ periarteritis nodosa

Single-system multifocal Langerhans cell histiocytosis

Single-system multifocal histiocytosis X · Single-system multifocal Langerhans cell granulomatosis

Singleton-Merten dysplasia

Singleton-Merten syndrome

Sinoatrial node dysfunction and deafness

Sinoatrial node dysfunction and hearing loss

Sirenomelia

Sitosterolemia

Phytosterolemia

Situs ambiguus

Incomplete situs inversus · Partial situs inversus