MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Shwachman-Diamond syndrome

ORPHA:811Disease
Autosomal recessive

Sialidosis

ORPHA:309294Clin. grp.
Autosomal recessive

Sialidosis type 1

ORPHA:812Disease
Autosomal recessive

Sialidosis type 2

ORPHA:87876Disease
Autosomal recessive

Sialuria

ORPHA:3166Disease
Autosomal dominant

Sickle cell S-C disease

ORPHA:251365Disease
Autosomal recessive

Sickle cell S-D Punjab disease

ORPHA:251370Clin. sub.
Autosomal recessive

Sickle cell S-E disease

ORPHA:251375Clin. sub.
Autosomal recessive

Sickle cell S-Lepore disease

ORPHA:699822Clin. sub.

Sickle cell S-O Arab disease

ORPHA:700090Clin. sub.

Sickle cell S-other specified hemoglobin variant

ORPHA:700107Clin. sub.

Sickle cell anemia

ORPHA:232Disease
Autosomal recessive

Sickle cell-beta plus-thalassemia

ORPHA:695147Etio. sub.
Autosomal recessive

Sickle cell-beta zero-thalassemia

ORPHA:695140Etio. sub.
Autosomal recessive

Sickle cell-beta-thalassemia disease

ORPHA:251359Disease
Autosomal recessive

Sideroblastic anemia

ORPHA:1047Cat.
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked dominant, X-linked recessive

Siegler-Brewer-Carey syndrome

ORPHA:3167Malform.
Autosomal recessive

Silent pituitary adenoma

ORPHA:314786Hist. sub.
Not applicable

Silent sinus syndrome

ORPHA:71276Disease
Not applicable

Sillence syndrome

ORPHA:3168Malform.
Autosomal dominant

Silver-Russell syndrome

ORPHA:813Disease
Autosomal dominant, Not applicable

Silver-Russell syndrome due to 11p15 microduplication

ORPHA:231144Etio. sub.
Autosomal dominant, Not applicable

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

ORPHA:231137Etio. sub.
Autosomal dominant, Not applicable

Silver-Russell syndrome due to a point mutation

ORPHA:397590Etio. sub.
Autosomal dominant