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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Shwachman-Diamond syndrome

ORPHA:811Заболевание
Autosomal recessive

Sialidosis

ORPHA:309294Клин. гр.
Autosomal recessive

Sialidosis type 1

ORPHA:812Заболевание
Autosomal recessive

Sialidosis type 2

ORPHA:87876Заболевание
Autosomal recessive

Sialuria

ORPHA:3166Заболевание
Autosomal dominant

Sickle cell S-C disease

ORPHA:251365Заболевание
Autosomal recessive

Sickle cell S-D Punjab disease

ORPHA:251370Клин. подт.
Autosomal recessive

Sickle cell S-E disease

ORPHA:251375Клин. подт.
Autosomal recessive

Sickle cell S-Lepore disease

ORPHA:699822Клин. подт.

Sickle cell S-O Arab disease

ORPHA:700090Клин. подт.

Sickle cell S-other specified hemoglobin variant

ORPHA:700107Клин. подт.

Sickle cell anemia

ORPHA:232Заболевание
Autosomal recessive

Sickle cell-beta plus-thalassemia

ORPHA:695147Этиол. подт.
Autosomal recessive

Sickle cell-beta zero-thalassemia

ORPHA:695140Этиол. подт.
Autosomal recessive

Sickle cell-beta-thalassemia disease

ORPHA:251359Заболевание
Autosomal recessive

Sideroblastic anemia

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

Siegler-Brewer-Carey syndrome

ORPHA:3167Порок
Autosomal recessive

Silent pituitary adenoma

ORPHA:314786Гист. подт.
Not applicable

Silent sinus syndrome

ORPHA:71276Заболевание
Not applicable

Sillence syndrome

ORPHA:3168Порок
Autosomal dominant

Silver-Russell syndrome

ORPHA:813Заболевание
Autosomal dominant, Not applicable

Silver-Russell syndrome due to 11p15 microduplication

ORPHA:231144Этиол. подт.
Autosomal dominant, Not applicable

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

ORPHA:231137Этиол. подт.
Autosomal dominant, Not applicable

Silver-Russell syndrome due to a point mutation

ORPHA:397590Этиол. подт.
Autosomal dominant