MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Shwachman-Diamond syndrome

ORPHA:811Заболевание
Autosomal recessive

Sialidosis

ORPHA:309294Клин. группа
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. подтип
Autosomal recessive

Sickle cell S-E disease

ORPHA:251375Клин. подтип
Autosomal recessive

Sickle cell S-Lepore disease

ORPHA:699822Клин. подтип

Sickle cell S-O Arab disease

ORPHA:700090Клин. подтип

Sickle cell S-other specified hemoglobin variant

ORPHA:700107Клин. подтип

Sickle cell anemia

ORPHA:232Заболевание
Autosomal recessive

Sickle cell-beta plus-thalassemia

ORPHA:695147Этиол. подтип
Autosomal recessive

Sickle cell-beta zero-thalassemia

ORPHA:695140Этиол. подтип
Autosomal recessive

Sickle cell-beta-thalassemia disease

ORPHA:251359Заболевание
Autosomal recessive

Sideroblastic anemia

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

Siegler-Brewer-Carey syndrome

ORPHA:3167Мальформация
Autosomal recessive

Silent pituitary adenoma

ORPHA:314786Гист. подтип
Not applicable

Silent sinus syndrome

ORPHA:71276Заболевание
Not applicable

Sillence syndrome

ORPHA:3168Мальформация
Autosomal dominant

Silver-Russell syndrome

ORPHA:813Заболевание
Autosomal dominant, Not applicable

Silver-Russell syndrome due to 11p15 microduplication

ORPHA:231144Этиол. подтип
Autosomal dominant, Not applicable

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

ORPHA:231137Этиол. подтип
Autosomal dominant, Not applicable

Silver-Russell syndrome due to a point mutation

ORPHA:397590Этиол. подтип
Autosomal dominant