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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Shwachman-Diamond syndrome

ORPHA:811Ауру
Autosomal recessive

Sialidosis

ORPHA:309294Клин. топ
Autosomal recessive

Sialidosis type 1

ORPHA:812Ауру
Autosomal recessive

Sialidosis type 2

ORPHA:87876Ауру
Autosomal recessive

Sialuria

ORPHA:3166Ауру
Autosomal dominant

Sickle cell S-C disease

ORPHA:251365Ауру
Autosomal recessive

Sickle cell S-D Punjab disease

ORPHA:251370Клин. под.
Autosomal recessive

Sickle cell S-E disease

ORPHA:251375Клин. под.
Autosomal recessive

Sickle cell S-Lepore disease

ORPHA:699822Клин. под.

Sickle cell S-O Arab disease

ORPHA:700090Клин. под.

Sickle cell S-other specified hemoglobin variant

ORPHA:700107Клин. под.

Sickle cell anemia

ORPHA:232Ауру
Autosomal recessive

Sickle cell-beta plus-thalassemia

ORPHA:695147Этио. под.
Autosomal recessive

Sickle cell-beta zero-thalassemia

ORPHA:695140Этио. под.
Autosomal recessive

Sickle cell-beta-thalassemia disease

ORPHA:251359Ауру
Autosomal recessive

Sideroblastic anemia

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

Siegler-Brewer-Carey syndrome

ORPHA:3167Мальф.
Autosomal recessive

Silent pituitary adenoma

ORPHA:314786Гист. под.
Not applicable

Silent sinus syndrome

ORPHA:71276Ауру
Not applicable

Sillence syndrome

ORPHA:3168Мальф.
Autosomal dominant

Silver-Russell syndrome

ORPHA:813Ауру
Autosomal dominant, Not applicable

Silver-Russell syndrome due to 11p15 microduplication

ORPHA:231144Этио. под.
Autosomal dominant, Not applicable

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

ORPHA:231137Этио. под.
Autosomal dominant, Not applicable

Silver-Russell syndrome due to a point mutation

ORPHA:397590Этио. под.
Autosomal dominant