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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 727 заболеваний (Клин. подт.) Сброс

Shiga toxin-associated hemolytic uremic syndrome

ORPHA:90038Клин. подт.
Not applicable

Short stature due to growth hormone qualitative anomaly

ORPHA:629Клин. подт.
Autosomal recessive

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

ORPHA:632Клин. подт.
X-linked 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.

Single-organ polyarteritis nodosa

ORPHA:439755Клин. подт.
Not applicable

Single-system multifocal Langerhans cell histiocytosis

ORPHA:687738Клин. подт.
Not applicable

Sporadic porphyria cutanea tarda

ORPHA:443057Клин. подт.
Multigenic/multifactorial

Stevens-Johnson syndrome

ORPHA:36426Клин. подт.
Not applicable

Stickler syndrome type 1

ORPHA:90653Клин. подт.
Autosomal dominant

Stickler syndrome type 2

ORPHA:90654Клин. подт.
Autosomal dominant

Streptococcus pneumoniae-associated hemolytic uremic syndrome

ORPHA:544493Клин. подт.

Sub-cortical nodular heterotopia

ORPHA:101029Клин. подт.

Subependymal nodular heterotopia

ORPHA:101030Клин. подт.

Synpolydactyly type 1

ORPHA:295195Клин. подт.
Autosomal dominant

Synpolydactyly type 2

ORPHA:295197Клин. подт.
Autosomal dominant

Systemic polyarteritis nodosa

ORPHA:439762Клин. подт.
Not applicable

Tay-Sachs disease, adult form

ORPHA:309192Клин. подт.
Autosomal recessive

Tay-Sachs disease, infantile form

ORPHA:309178Клин. подт.
Autosomal recessive

Tay-Sachs disease, juvenile form

ORPHA:309185Клин. подт.
Autosomal recessive

Telangiectasia macularis eruptiva perstans

ORPHA:90389Клин. подт.
Unknown