MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Shwachman-Diamond syndrome

ORPHA:811Kr.
Autosomal recessive

Sialidosis

ORPHA:309294Kl. gruppe
Autosomal recessive

Sialidosis type 1

ORPHA:812Kr.
Autosomal recessive

Sialidosis type 2

ORPHA:87876Kr.
Autosomal recessive

Sialuria

ORPHA:3166Kr.
Autosomal dominant

Sickle cell S-C disease

ORPHA:251365Kr.
Autosomal recessive

Sickle cell S-D Punjab disease

ORPHA:251370Kl. subt.
Autosomal recessive

Sickle cell S-E disease

ORPHA:251375Kl. subt.
Autosomal recessive

Sickle cell S-Lepore disease

ORPHA:699822Kl. subt.

Sickle cell S-O Arab disease

ORPHA:700090Kl. subt.

Sickle cell S-other specified hemoglobin variant

ORPHA:700107Kl. subt.

Sickle cell anemia

ORPHA:232Kr.
Autosomal recessive

Sickle cell-beta plus-thalassemia

ORPHA:695147Ätl. subt.
Autosomal recessive

Sickle cell-beta zero-thalassemia

ORPHA:695140Ätl. subt.
Autosomal recessive

Sickle cell-beta-thalassemia disease

ORPHA:251359Kr.
Autosomal recessive

Sideroblastic anemia

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

Siegler-Brewer-Carey syndrome

ORPHA:3167Malf.
Autosomal recessive

Silent pituitary adenoma

ORPHA:314786His. subt.
Not applicable

Silent sinus syndrome

ORPHA:71276Kr.
Not applicable

Sillence syndrome

ORPHA:3168Malf.
Autosomal dominant

Silver-Russell syndrome

ORPHA:813Kr.
Autosomal dominant, Not applicable

Silver-Russell syndrome due to 11p15 microduplication

ORPHA:231144Ätl. subt.
Autosomal dominant, Not applicable

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

ORPHA:231137Ätl. subt.
Autosomal dominant, Not applicable

Silver-Russell syndrome due to a point mutation

ORPHA:397590Ätl. subt.
Autosomal dominant